From 5f0ca6e400cebe183e73c2432e785f9afbff21ff Mon Sep 17 00:00:00 2001 From: Zoe May Pendlington Date: Thu, 7 Nov 2024 09:28:13 +0000 Subject: [PATCH] Imported dye term for #1453 --- efo-base.owl | 2 +- src/ontology/imports/chebi_import.owl | 61 + src/ontology/imports/chebi_terms.txt | 2 + src/ontology/iri_dependencies/chebi_terms.txt | 2 + src/ontology/reports/basic-report.tsv | 179 +- .../reports/class-count-by-prefix.tsv | 2 +- src/ontology/reports/edges.tsv | 25741 ++++++++-------- src/ontology/reports/synonyms.tsv | 4576 +-- src/ontology/reports/xrefs.tsv | 3010 +- 9 files changed, 16825 insertions(+), 16750 deletions(-) diff --git a/efo-base.owl b/efo-base.owl index f415521c..f986c5bf 100644 --- a/efo-base.owl +++ b/efo-base.owl @@ -53,7 +53,7 @@ Licensed under the Apache License, Version 2.0 (the "License"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an "AS IS" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. www.apache.org/licenses/LICENSE-2.0 - 2024-10-31 + 2024-11-07 3.71.0 diff --git a/src/ontology/imports/chebi_import.owl b/src/ontology/imports/chebi_import.owl index c655daa8..bd33f3c1 100644 --- a/src/ontology/imports/chebi_import.owl +++ b/src/ontology/imports/chebi_import.owl @@ -123878,6 +123878,67 @@ + + + + + chebi_ontology + Farbstoff + Farbstoffe + colorante + colorantes + dyes + teinture + teintures + CHEBI:37958 + + dye + + + + + Farbstoff + ChEBI + + + + + Farbstoffe + ChEBI + + + + + colorante + ChEBI + + + + + colorantes + ChEBI + + + + + dyes + ChEBI + + + + + teinture + ChEBI + + + + + teintures + ChEBI + + + + diff --git a/src/ontology/imports/chebi_terms.txt b/src/ontology/imports/chebi_terms.txt index 96c037ea..6739bb12 100644 --- a/src/ontology/imports/chebi_terms.txt +++ b/src/ontology/imports/chebi_terms.txt @@ -1,3 +1,4 @@ + BFO:0000050 RO:0000052 http://purl.obolibrary.org/obo/CHEBI_ @@ -897,6 +898,7 @@ http://purl.obolibrary.org/obo/CHEBI_37887 http://purl.obolibrary.org/obo/CHEBI_37890 http://purl.obolibrary.org/obo/CHEBI_37930 http://purl.obolibrary.org/obo/CHEBI_37956 +http://purl.obolibrary.org/obo/CHEBI_37958 http://purl.obolibrary.org/obo/CHEBI_37960 http://purl.obolibrary.org/obo/CHEBI_37987 http://purl.obolibrary.org/obo/CHEBI_37989 diff --git a/src/ontology/iri_dependencies/chebi_terms.txt b/src/ontology/iri_dependencies/chebi_terms.txt index 190f875f..99973fc7 100644 --- a/src/ontology/iri_dependencies/chebi_terms.txt +++ b/src/ontology/iri_dependencies/chebi_terms.txt @@ -1837,3 +1837,5 @@ http://purl.obolibrary.org/obo/CHEBI_8058 http://purl.obolibrary.org/obo/CHEBI_138015 http://purl.obolibrary.org/obo/CHEBI_76172 http://purl.obolibrary.org/obo/CHEBI_3732 +http://purl.obolibrary.org/obo/CHEBI_37958 + diff --git a/src/ontology/reports/basic-report.tsv b/src/ontology/reports/basic-report.tsv index 387cada7..48dfdff7 100644 --- a/src/ontology/reports/basic-report.tsv +++ b/src/ontology/reports/basic-report.tsv @@ -98,7 +98,7 @@ "human melanoma established from the lymph node metastasis (groin) of a 26-year-old man with malignant melanoma (primary tumor histology: SSM level IV) (DSMZ catalog number ACC 237)" "CLO:0006670 BTO:0005747 RRID:CVCL_2075" "A neoplasm involving a oculomotor nerve." "NCIT:C6994 MEDGEN:220391 SCTID:126969002 ICD9:239.7 DOID:2817 UMLS:C1263895" - "A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen." "SNOMEDCT:41898006 FMA:81100 NCIt:C12521 CALOHA:TS-0290 BTO:0000424" + "A red blood cell. In mammals, mature erythrocytes are biconcave disks containing hemoglobin whose function is to transport oxygen." "FMA:81100 NCIt:C12521 CALOHA:TS-0290 BTO:0000424 SNOMEDCT:41898006" "Tip of renal pyramid projecting into a minor calyx." "BTO:0003925 SCTID:362214007 Wikipedia:Renal_papilla galen:RenalPapilla FMA:15622 EMAPA:35727 UMLS:C0022666 MESH:D007679 NCIT:C33460 MA:0002730" "A benign soft tissue lesion arising from the adrenal gland. It is composed of mature adipose and hematopoietic/lymphoid tissues." "MEDGEN:64623 UMLS:C0206635 MESH:D018209 EFO:1000074 SCTID:719049003 MONDO:0006075 NCIT:C3736 ICDO:8870/0" "Quantification of the amount of arachidonoylcholine in a sample." "PMID:35347128" @@ -515,7 +515,7 @@ "The central nervous system is that part of the nervous system that consists of the brain and spinal cord. The central nervous system (CNS) is one of the two major divisions of the nervous system. The other is the peripheral nervous system (PNS) which is outside the brain and spinal cord." "ZFA:0000012 EMAPA:16470 BTO:0000227 FMA:55675 EHDAA:828 MAT:0000457 NIFSTD:birnlex_1099 EV:0100163 TAO:0000012 MA:0000167" "A painful blister of the periungual skin that is caused by herpes simplex virus type 1 or 2." "ICD9:054.6 DOID:8607 SCTID:43891009 MEDGEN:509122 UMLS:C0153042 NCIT:C128402" "Infections with bacteria of the family anaplasmataceae." "MESH:D000711 MeSH:D000711 MONDO:0006922 SCTID:422167001 DOID:4351" - "An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence." "SCTID:41370002 MONDO:0002565 MESH:D009187 NCIT:C26832 icd11.foundation:1993728609 UMLS:C0026975 DOID:322 ICD9:323.9 MEDGEN:10230 MedDRA:10028524" + "An inflammatory process affecting the spinal cord. Causes include viral infections, autoimmune disorders, vascular disorders, and toxic agents. Symptoms include weakness, paresthesia, sensory loss, pain, and incontinence." "SCTID:41370002 MONDO:0002565 MESH:D009187 NCIT:C26832 icd11.foundation:1993728609 UMLS:C0026975 ICD9:323.9 DOID:322 MEDGEN:10230 MedDRA:10028524" "Quantification of alpha-(1,6)-fucosyltransferase in a sample." "PMID:29875488" "A length unit which is equal to 10^[-12] m." "NCIt:C69148" "Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, weight deficiency, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and a sister and an autosomal recessive mode of inheritance has been suggested. There have been no further description in the literature since 1977." "ICD10:Q87.8" @@ -911,7 +911,7 @@ "The determination of the amount of glia-derived nexin in a sample" "PMID:28240269" "The amount of a sulfhydryl oxidase 2 when measured in blood serum." - "The part of the stomach attached to the esophagus. The cardia begins immediately distal to the z-line of the gastroeosphageal junction, where the squamous epithelium of the esophagus gives way to the columnar epithelium of the gastrointestinal tract[WP]." "MESH:D002299 FMA:14561 SCTID:362138004 GAID:319 NCIT:C12256 EMAPA:35811 BTO:0000198 Wikipedia:Cardia UMLS:C0007144 MA:0001609" + "The part of the stomach attached to the esophagus. The cardia begins immediately distal to the z-line of the gastroeosphageal junction, where the squamous epithelium of the esophagus gives way to the columnar epithelium of the gastrointestinal tract[WP]." "MESH:D002299 FMA:14561 SCTID:362138004 GAID:319 NCIT:C12256 EMAPA:35811 Wikipedia:Cardia BTO:0000198 UMLS:C0007144 MA:0001609" "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults." "MedDRA:10049202 UMLS:C0006272 NANDO:1200745 MONDO:0015265 NANDO:2200209 MeSH:D001989 DOID:2799 SCTID:40100001 icd11.foundation:592711730 Orphanet:1303 ICD9:466.19 ICD9:491.8 GARD:5961 HP:0011946 NANDO:2100039 MEDGEN:665" "CS57875 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158899&type=germplasm" @@ -1220,7 +1220,7 @@ "The amount of a small nuclear ribonucleoprotein G when measured in blood serum." "Quantification of the amount of 4-acetaminophen sulfate in a sample." "PMID:24816252" - "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness." "OMIM:181430 UMLS:C0026848 OMIM:300695 NCIt:C101216 MedDRA:10028649 MEDGEN:10135 ICD9:728.3 DOID:423 MedDRA:10028641 ICD9:359.9 SCTID:129565002 NCIT:C101216 icd11.foundation:1870184184 SCTID:75047002 ICD9:359.8 MONDO:0005336" + "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness." "OMIM:181430 UMLS:C0026848 NCIt:C101216 MedDRA:10028649 OMIM:300695 MEDGEN:10135 ICD9:728.3 DOID:423 MedDRA:10028641 ICD9:359.9 SCTID:129565002 NCIT:C101216 icd11.foundation:1870184184 SCTID:75047002 ICD9:359.8 MONDO:0005336" "OMIM:618272 UMLS:CN226190 ICD10:Q87.3 Orphanet:404476" @@ -1353,7 +1353,7 @@ "Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure." "NANDO:1201036 MESH:C537699 UMLS:C1855681 NANDO:2200140 DOID:0111112 NCIT:C74998 OMIM:256100 Orphanet:93592 MEDGEN:343406 SCTID:444830001 GARD:18645" "The determination of the amount of complement component C9 in a sample" "PMID:28240269" "Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly." "DOID:0060376 SCTID:721873007 MESH:C536531 Orphanet:2754 MEDGEN:411200 NCIT:C124841 GARD:4412 UMLS:C2745997 OMIM:277170" - "Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." "DOID:0050855 SNOMEDCT:197660000 HP:0030760 MONDO:0000494 SCTID:197660000 MEDGEN:508798 MP:0003985 PMID:16408108 UMLS:C0151650" + "Renal fibrosis is the inevitable consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. The pathogenesis of renal fibrosis is a progressive process that ultimately leads to end-stage renal failure, a devastating disorder that requires dialysis or kidney transplantation." "DOID:0050855 SNOMEDCT:197660000 MONDO:0000494 HP:0030760 SCTID:197660000 MEDGEN:508798 MP:0003985 PMID:16408108 UMLS:C0151650" "Quantification of the amount of amphoterin-induced protein 2 measurement in a sample." "PMID:36168886" "quantification of the amount of [Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial in a sample" "A tuberculosis that involves the ureter." "ICD9:016.20 DOID:827 SCTID:81359005 UMLS:C0152800 ICD9:016.2 MEDGEN:509076" @@ -1389,7 +1389,7 @@ "The amount of a BAG family molecular chaperone regulator 4 when measured in blood serum." "Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)" "MONDO:0017638 Orphanet:306682 MedDRA:10058951 GARD:21264 SCTID:88687001 ICD9:503 ORDO:Orphanet_306682 MESH:D020149 MeSH:D020149" "The amount of a zinc finger and BTB domain-containing protein 10 when measured in blood serum." - "A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma." "DOID:3218 NCIT:C8401 MEDGEN:7187 UMLS:C0022374 MESH:D007580 SCTID:126834003" + "A benign or malignant neoplasm that affects the wall of the jejunum. Representative examples include adenoma, carcinoma, and lymphoma." "DOID:3218 NCIT:C8401 MEDGEN:7187 UMLS:C0022374 SCTID:126834003 MESH:D007580" "An IgG memory B cell is a class switched memory B cell that is class switched and expresses IgG on the cell surface." "The smooth stratified squamous epithelium that covers the outer surface of the cornea." "EFO:0001917 FMA:58263 ZFA:0001683 TAO:0002187 UMLS:C0459875 MESH:D019573 GAID:895 SCTID:368825001 EMAPA:17162 Wikipedia:Corneal_epithelium BTO:0000287 NCIT:C12928 MA:0001243 CALOHA:TS-0173 EHDAA2:0000319" "Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency." "NANDO:2200441 Orphanet:404553 UMLS:C3887654 MEDGEN:854497 OMIM:615688 GARD:12383 NANDO:2200450 NANDO:1200995" @@ -2844,7 +2844,7 @@ "An abscess that develops in the space surrounding one or both palatine tonsils." "ICD10CM:J36 SCTID:15033003 UMLS:C0031157 icd11.foundation:1782446047 MedDRA:10034686 ICD9:475 MONDO:0005906 DOID:12765 MeSH:D000039 MESH:D000039 MEDGEN:45819 ICD10:J36 NCIT:C128322" "A disease associated with shortened telomeres. Pulmonary fibrosis is the most common manifestation. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome and acute myeloid leukemia. Phenotype, age at onset, and severity are determined by telomere length." "MONDO:0013878 MEDGEN:766531 OMIM:614742 UMLS:C3553617" "quantification of the surface area of the visual cortex. The visual cortex is located in the occipital lobe at the back of the brain. It is variable and heritable, and is correlated with visual acuity and visual perception." "PMID:22343285" - "A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." "UMLS:C0346185 MEDGEN:83414 NCIT:C8106 EFO:1000414 MONDO:0003481 ONCOTREE:ODYS DOID:5511 SCTID:254874008 icd11.foundation:208782658" + "A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage." "MEDGEN:83414 NCIT:C8106 EFO:1000414 MONDO:0003481 ONCOTREE:ODYS DOID:5511 SCTID:254874008 icd11.foundation:208782658 UMLS:C0346185" "Quantification of triglycerides in very large HDL." "An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation." "DOID:0111240 MEDGEN:461761 GARD:15624 UMLS:C3150411 NCIT:C126742 OMIM:613150" "Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities." "SCTID:719395001 MEDGEN:414129 OMIM:612946 GARD:17116 UMLS:C2751878 MESH:C567850 Orphanet:217026" @@ -3508,7 +3508,7 @@ "UMLS:C3508773 Orphanet:99875 MEDGEN:854083 icd11.foundation:165998215" "The amount of a guanine nucleotide-binding protein G(i) subunit alpha-1 when measured in blood serum." - "A muscular disease in which the muscle fibers do not function resulting in muscular weakness." "OMIM:181430 UMLS:C0026848 OMIM:300695 NCIt:C101216 MedDRA:10028649 MEDGEN:10135 ICD9:728.3 DOID:423 MedDRA:10028641 ICD9:359.9 SCTID:129565002 NCIT:C101216 icd11.foundation:1870184184 SCTID:75047002 ICD9:359.8 MONDO:0005336" + "A muscular disease in which the muscle fibers do not function resulting in muscular weakness." "OMIM:181430 UMLS:C0026848 NCIt:C101216 MedDRA:10028649 OMIM:300695 MEDGEN:10135 ICD9:728.3 DOID:423 MedDRA:10028641 ICD9:359.9 SCTID:129565002 NCIT:C101216 icd11.foundation:1870184184 SCTID:75047002 ICD9:359.8 MONDO:0005336" "The amount of a protein GOLM2 when measured in blood serum." "CAS:50892-23-4 ChemIDplus:50892-23-4 Wikipedia:Pirinixic_Acid ChEMBL:162864 KEGG:C15617 MeSH:C006253 LINCS:LSM-2015 NCIt:C29866" "P2Y12 defect is a rare hemorrhagic disorder characterized by mild to moderate bleeding diathesis with easy bruising, mucosal bleedings, and excessive post-operative hemorrhage due to defect of the platelet P2Y12 receptor resulting in selective impairment of platelet responses to adenosine diphosphate." "NANDO:2200669 MESH:C565220 Orphanet:36355 SCTID:725291001 UMLS:C1853278 OMIM:609821 DOID:0060692 MEDGEN:344008 GARD:12478" @@ -3646,7 +3646,7 @@ "OMIM:310440 ICD10:G71.8" - "Initial section of the oviduct through which the ova pass from the ovary to the uterus." "CALOHA:TS-0732 EMAPA:35660 Wikipedia:Fallopian_tube EV:0100112 NCIT:C12403 MESH:D005187 MA:0000385 GAID:365 galen:FallopianTube SCTID:181463001 EHDAA2:0000504 UMLS:C0015560 FMA:18245" + "Initial section of the oviduct through which the ova pass from the ovary to the uterus." "CALOHA:TS-0732 FMA:18245 EMAPA:35660 Wikipedia:Fallopian_tube EV:0100112 NCIT:C12403 MESH:D005187 MA:0000385 GAID:365 galen:FallopianTube SCTID:181463001 EHDAA2:0000504 UMLS:C0015560" "A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)." @@ -6066,7 +6066,7 @@ "GARD:18297 SCTID:720576001 Orphanet:178506 UMLS:C5436276 OMIM:618007 OMIM:613658 MEDGEN:1750003" "The amount of a smad5 when measured in blood serum." "Quantification of p53 and DNA damage-regulated protein 1 in a sample." "PMID:29875488" - "A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis." "DOID:0050855 SNOMEDCT:197660000 HP:0030760 MONDO:0000494 SCTID:197660000 MEDGEN:508798 MP:0003985 PMID:16408108 UMLS:C0151650" + "A final common manifestation of a wide variety of chronic kidney diseases characterized by glomerulosclerosis and tubulointerstitial fibrosis." "DOID:0050855 SNOMEDCT:197660000 MONDO:0000494 HP:0030760 SCTID:197660000 MEDGEN:508798 MP:0003985 PMID:16408108 UMLS:C0151650" "The amount of a CDGSH iron-sulfur domain-containing protein 1 when measured in blood serum." "The amount of a plastin-1 when measured in blood serum." @@ -6129,7 +6129,7 @@ "ICD10:Q93.5" "OMIM:276950 ICD10:Q87.8 OMIM:314390" - "A dentine-like hypermineralized substance that covers the tooth tip. Enamel's primary mineral is hydroxylapatite, which is a crystalline calcium phosphate. Unlike dentin and bone, enamel does not contain collagen. Instead, it has two unique classes of proteins called amelogenins and enamelins[WP]." "CALOHA:TS-1057 SCTID:362113009 EMAPA:35303 UMLS:C0011350 MA:0002543 VSAO:0000065 XAO:0004198 Wikipedia:Enamel_organ MESH:D003743 BTO:0001844 FMA:55629 NCIT:C32505" + "A dentine-like hypermineralized substance that covers the tooth tip. Enamel's primary mineral is hydroxylapatite, which is a crystalline calcium phosphate. Unlike dentin and bone, enamel does not contain collagen. Instead, it has two unique classes of proteins called amelogenins and enamelins[WP]." "CALOHA:TS-1057 SCTID:362113009 EMAPA:35303 UMLS:C0011350 MA:0002543 VSAO:0000065 Wikipedia:Enamel_organ XAO:0004198 MESH:D003743 BTO:0001844 FMA:55629 NCIT:C32505" "quantification of the amount of chromogranin B cleavage product in a sample" "MeSH:C537986 MeSH:C538078 ICD10:G60.0 OMIM:118300 UMLS:C1861669 UMLS:C2931686" @@ -6331,7 +6331,7 @@ "Quantification of intestinal-type alkaline phosphatase in a sample." "PMID:29875488" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gemcitabine stimulus. Gemcitabine is a 2'-deoxycytidine having geminal fluoro substituents in the 2'-position, and is used as a drug in the treatment of various carcinomas." - "A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication." "NCIT:C34899 SCTID:265377002 MEDGEN:10592 ICD9:332.1 MeSH:D010302 UMLS:C0030569 ICD10:G21 DOID:13548 MESH:D010302 MONDO:0006966" + "A condition with a clinical picture similar to that of Parkinson disease, but which is caused by external factors, including medication." "NCIT:C34899 SCTID:265377002 MEDGEN:10592 ICD9:332.1 MeSH:D010302 ICD10:G21 UMLS:C0030569 DOID:13548 MESH:D010302 MONDO:0006966" "Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency." "GARD:7864 SCTID:444707001 DOID:2749 MESH:C538655 OMIM:232200 UMLS:C2919796 MEDGEN:415885 NANDO:2201153 Orphanet:79258" "The amount of a polyphosphoinositide phosphatase when measured in blood serum." "The amount of a Isoleucyl-Threonine when measured in blood." "PMID:37253714" @@ -10060,7 +10060,7 @@ "Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation." "DOID:0060006 DOID:0090012 Orphanet:275 GARD:9987 UMLS:C1865370 OMIM:602450 MEDGEN:355454 SCTID:715982006" "Quantification of phosphatidylcholine diacyl C42:1 measurement in a sample." "PMID:26068415" - "The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient." "EV:0100391 CALOHA:TS-0860 ZFA:0005294 GAID:434 TAO:0005294 FMA:15628 BTO:0000761 Wikipedia:Collecting_tubule MESH:D007685 MA:0000371 SCTID:28202009 EMAPA:28407" + "The collecting duct is a portion of the nephron through which water flows, moving passively down its concentration gradient." "CALOHA:TS-0860 ZFA:0005294 GAID:434 TAO:0005294 FMA:15628 BTO:0000761 Wikipedia:Collecting_tubule MESH:D007685 MA:0000371 SCTID:28202009 EMAPA:28407 EV:0100391" "A benign or malignant neoplasm arising from the sweat glands." "MeSH:D013544 ICD9:239.2 MESH:D013544 ICDO:8400/1 DOID:2664 UMLS:C0038987 SCTID:126490003 MONDO:0002381 MEDGEN:21039 NCIT:C3398 NCIt:C3398 SNOMEDCT:126490003" "Constitutional type in traditional Korean medicine. Individuals classed under this type are supposed to have a large spleen, and small kidneys. They have whitish skin. Like So-Eum, many of this type are skinny." "Wikipedia:Sasang_typology PMID:25888059" @@ -10500,7 +10500,7 @@ "Human colon carcinoma cell line (DSMZ catalog number ACC 467)" "A lymphoma that involves the urinary bladder." "MEDGEN:231948 DOID:11821 NCIT:C6164 UMLS:C1332561" "The amount of a phosphatidylcholine-sterol acyltransferase when measured in blood serum." - "Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)" "NCIT:C34899 SCTID:265377002 MEDGEN:10592 ICD9:332.1 MeSH:D010302 UMLS:C0030569 ICD10:G21 DOID:13548 MESH:D010302 MONDO:0006966" + "Conditions which feature clinical manifestations resembling primary Parkinson disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)" "NCIT:C34899 SCTID:265377002 MEDGEN:10592 ICD9:332.1 MeSH:D010302 ICD10:G21 UMLS:C0030569 DOID:13548 MESH:D010302 MONDO:0006966" "Quantification of the amount of X-12435 in a sample." "PMID:24816252" "Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic disks), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested." "UMLS:C1838654 Orphanet:1422 MEDGEN:333149 OMIM:600092 GARD:16565 MESH:C536123 DOID:0060644 SCTID:720851007" @@ -11897,7 +11897,7 @@ "Quantification of rho-related GTP-binding protein Rho6 in a sample." "PMID:29875488" "The amount of a sorting nexin-15 when measured in blood serum." "A primary or metastatic malignant neoplasm involving the esophagus." "UMLS:C0546837 ICD9:150.5 SCTID:363402007 NCIT:C4764 NCIT:C7478 ICD9:150.8 ICD9:150.2 MEDGEN:107792 DOID:5041 OMIM:133239 ICD9:150.9 SCTID:187724003 ICD9:150.4 ICD9:150.3" - "Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]." "Wikipedia:Appendicular_skeleton MIAA:0000278 VSAO:0000076 MAT:0000278 FMA:71222 EFO:0000951 AAO:0000747 NCIT:C49477 UMLS:C0222646 SCTID:322050006 MA:0000290 EMAPA:32729 XAO:0003166" + "Subdivision of skeleton which which consists of all the skeletal elements in in the pectoral and pelvic appendage complexes[cjm]." "XAO:0003166 Wikipedia:Appendicular_skeleton MIAA:0000278 VSAO:0000076 MAT:0000278 FMA:71222 EFO:0000951 AAO:0000747 NCIT:C49477 UMLS:C0222646 SCTID:322050006 MA:0000290 EMAPA:32729" "The amount of a oxidoreductase-like domain-containing protein 1 when measured in blood serum." "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene." "GARD:18338 MEDGEN:481656 Orphanet:280663 OMIM:614171 ICD10CM:E70.3 DOID:0060547 UMLS:C3280026" "A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 or SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur." "NANDO:1200483 Orphanet:2020 DOID:0080102 UMLS:C0546264 GARD:6161 NANDO:2200868 NCIT:C120046 MEDGEN:108177" @@ -12264,7 +12264,7 @@ "Group of hemorrhagic disorders in which the VON WILLEBRAND FACTOR is either quantitatively or qualitatively abnormal. They are usually inherited as an autosomal dominant trait though rare kindreds are autosomal recessive. Symptoms vary depending on severity and disease type but may include prolonged bleeding time, deficiency of factor VIII, and impaired platelet adhesion." "MeSH:D014842" "The amount of a catenin alpha-3 when measured in blood serum." - "A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis." "NCIT:C6381 DOID:4301 icd11.foundation:247568702 MEDGEN:234481 GARD:22006 Orphanet:494451 UMLS:C1336977 SCTID:717731002" + "A slow growing, locally infiltrating carcinoma that arises from the vulva. It is characterized by the presence of malignant cells that resemble the basal cells that are present in the epidermis." "SCTID:717731002 NCIT:C6381 DOID:4301 icd11.foundation:247568702 MEDGEN:234481 GARD:22006 Orphanet:494451 UMLS:C1336977" "A genetic skin disorder caused by mutations in the KRT9 gene. It is characterized by hyperkeratosis in the palms and soles resulting in abnormal thickening of the skin in these areas." "OMIM:144200 NCIT:C84693 GARD:2826 SCTID:399955009 Orphanet:2199 ICD9:757.39 DOID:0070552" "The amount of a myocyte-specific enhancer factor 2C when measured in blood serum." "The amount of a myosin light polypeptide 6 when measured in blood serum." @@ -13538,7 +13538,7 @@ "MEDGEN:98046 DOID:0060946 NANDO:1200215 OMIM:254090 UMLS:C0410179" "Any abnormality of the large intestine." "UMLS:C4025715" "NIH-3T3 cell line stably transfected with insulin receptor cDNA" "BTO:0004245 RRID:CVCL_L990" - "Organ with organ cavity which connects the cavity of the middle ear to the cavity of the pharynx. Examples: There are only two pharyngotympanic tubes, the right and the left pharyngotympanic tubes.[FMA]." "AAO:0000146 MA:0000255 GAID:869 EV:0100359 EMAPA:17601 VHOG:0001145 FMA:9705 Wikipedia:Eustachian_tube XAO:0000213 UMLS:C0015183 AAO:0011016 NCIT:C12500 MESH:D005064" + "Organ with organ cavity which connects the cavity of the middle ear to the cavity of the pharynx. Examples: There are only two pharyngotympanic tubes, the right and the left pharyngotympanic tubes.[FMA]." "AAO:0000146 VHOG:0001145 MA:0000255 GAID:869 EMAPA:17601 EV:0100359 FMA:9705 Wikipedia:Eustachian_tube XAO:0000213 UMLS:C0015183 AAO:0011016 NCIT:C12500 MESH:D005064" "SCTID:710010005 MEDGEN:873772 UMLS:C4040907 GARD:19677 Orphanet:99228" "Quantification of the amount of X-11786--methylcysteine in a sample." "PMID:24816252" "Congenital disorder of glycosylation (CDG) is a fast growing group of inborn errors of metabolism characterized by defective activity of enzymes that participate in glycosylation (modification of proteins and other macromolecules by adding and processing of oligosaccharide side chains). CDG is comprised of phenotypically diverse disorders affecting multiple systems including the central nervous system, muscle function, immunity, endocrine system, and coagulation. The numerous entities in this group are subdivided, based on the synthetic pathway affected, into disorder of protein N-glycosylation, disorder of protein O-glycosylation, disorder of multiple glycosylation, and disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation." "MESH:D018981 DOID:5212 SCTID:238049009 ICD9:271.8 GARD:10307 NCIT:C84615 UMLS:C0282577 MEDGEN:76469 Orphanet:137" @@ -13646,7 +13646,7 @@ "Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X." "UMLS:C4025649 UMLS:C3494187 SNOMEDCT_US:234440005" "Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated." "MEDGEN:766784 OMIM:614851 DOID:0070011 UMLS:C3553870 GARD:17469 Orphanet:319675" "Immortalized mouse embryonic stem cell line" - "A disease involving the prostate gland." "ICD9:602.8 MEDGEN:10964 ICD9:602.9 ICD10:N42 UMLS:C0033575 DOID:47 MESH:D011469 NCIT:C26865 SCTID:30281009 MONDO:0003105" + "A disease involving the prostate gland." "ICD9:602.8 MEDGEN:10964 ICD9:602.9 ICD10:N42 UMLS:C0033575 MESH:D011469 DOID:47 NCIT:C26865 SCTID:30281009 MONDO:0003105" "Quantification of the amount of X-21285 in a sample." "PMID:35347128" @@ -14291,6 +14291,7 @@ "Quantification of the amount of interleukin-17D measurement in a sample." "PMID:36168886" "Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." "DOID:14041 MESH:D014383 UMLS:C0041310 MONDO:0006743 MEDGEN:52884 MeSH:D014383" "GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction." "ICD10:E75.1 OMIM:230650" + "Quantification of istamycin C1 in blood plasma." "KEGG COMPOUND:C17996" "A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION." "ICD9:404.13 ICD9:428 SNOMEDCT:42343007 UMLS:C0018802 SCTID:42343007 ICD9:404.01 NCIt:C3080 ICD9:428.9 icd11.foundation:2136808878 NCIT:C3080 ICD9:404.11 MEDGEN:9169 ICD9:428.0 MedDRA:10010684 DOID:6000 MONDO:0005009" @@ -14436,7 +14437,7 @@ "Macular coloboma-cleft palate-hallux valgus syndrome is characterized by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive." "MESH:C565686 MEDGEN:341812 OMIM:216800 UMLS:C1857619 Orphanet:91494 GARD:16802 SCTID:722463001" "UMLS:C4751007 Orphanet:324416 MEDGEN:1665387 GARD:21441" "Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia." "DOID:0080778 Orphanet:217371 UMLS:C3278664 MEDGEN:480294 GARD:10593 OMIM:613070" - "An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries." "DOID:3526 ICD9:433.81 ICD9:433.01 ICD9:433.31 MESH:D002544 SCTID:20059004 UMLS:C0007785 SCTID:432504007 MEDGEN:3321 ICD9:433.21 ICD9:434.91 NCIT:C50486" + "An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries." "DOID:3526 ICD9:433.81 ICD9:433.01 ICD9:433.31 MESH:D002544 SCTID:20059004 UMLS:C0007785 SCTID:432504007 MEDGEN:3321 ICD9:434.91 ICD9:433.21 NCIT:C50486" "Death within the first 24 months of life." "UMLS:C1858430 UMLS:C1844947" "A condition characterized by a pattern of right bundle branch block (RBBB) and ST-segment elevation within electrocardiogram (ECG) leads V1-V3. This pattern emerges as a result of a defect in ion channel genes, resulting in abnormal electrophysiological activity in the right ventricle and a propensity to malignant tachyarrhythmias." "DOID:0081340 UMLS:C5830333 MEDGEN:1840969 OMIM:620278" @@ -15124,7 +15125,7 @@ "Quantification of dynactin-associated protein in a sample." "PMID:29875488" "A chronic inflammatory process affecting the skin. It is characterized by the presence of white, indurated plaques, epidermal atrophy, and fibrosis of the upper dermis. It usually appears in the vulva and penis." "OMIM:151590 MESH:D018459 Orphanet:33409 UMLS:C0023652 SCTID:25674000 NCIT:C26817 MEDGEN:7338 ICD10CM:L90.0" "An inability to digest lactose." "SNOMEDCT_US:700094005 SNOMEDCT_US:267425008 UMLS:C0022951" - "Inflammation of the gallbladder in the absence of gallstones." "MeSH:D042101 SCTID:19968009 DOID:2828 MEDGEN:82762 NCIT:C35578 MONDO:0006633 MESH:D042101 NCIt:C35578 MedDRA:10000347 UMLS:C0267841" + "Inflammation of the gallbladder in the absence of gallstones." "SCTID:19968009 MeSH:D042101 DOID:2828 MEDGEN:82762 NCIT:C35578 MONDO:0006633 MESH:D042101 NCIt:C35578 MedDRA:10000347 UMLS:C0267841" "Quantification of the amount of down syndrome cell adhesion molecule measurement in a sample." "PMID:36168886" "A methanesulfonate (mesylate) salt that is the monomesylate salt of imatinib. Used for treatment of chronic myelogenous leukemia and gastrointestinal stromal tumours." "PMID:21333826 PMID:17212133 PMID:19542718 HMDB:HMDB0014757 PMID:16805961 PMID:23462796 PMID:12616857 PMID:15161340 CAS:220127-57-1 Patent:WO2004106326 Patent:WO9903854 Patent:RU2365587 PMID:15727903 PMID:12975485 PMID:19568828 PMID:19508953 PMID:14760091 PMID:18422477 PMID:15601563 PMID:19073506 PMID:15250677 PMID:12669406 Beilstein:10229624 PMID:16570351 Patent:WO2011161689 DrugBank:DB00619 PMID:12047970 PMID:19258052 KEGG:D01441 PMID:16835496 PMID:15059881 Reaxys:10229624 PMID:21084823 PMID:15206509" "a disease located in the placenta" "MONDO:0005917 DOID:780 MeSH:NoID MESH:D010922 SCTID:125586008 ICD9:646.9 UMLS:C0032045 MEDGEN:10781 ICD9:656.70 NCIT:C26857" @@ -15575,7 +15576,7 @@ "The amount of a far upstream element-binding protein 3 when measured in blood serum." "An inheritable form of hyperlipidemia, in which there are excess lipids in the blood." "OMIM:143890 SNOMEDCT:398036000 UMLS:C0020445 NANDO:2200602 MedDRA:10054380 MEDGEN:5688 MONDO:0005439 OMIM:144010 SCTID:190773008 NCIT:C34704 MeSH:D006938 DOID:13810 OMIM:603776 OMIMPS:143890 ICD9:V19.8" "OMIM:614199 ICD10:N04" - "The lobar bronchus is the major airway within the respiratory tree that starts by division of the principal bronchi on both sides and ends at the point of its own subdivision into tertiary or segmental bronchi[GO]." "SCTID:245509008 Wikipedia:Secondary_bronchus MA:0000437 EHDAA:8213 NCIT:C32998 EHDAA:8187 EMAPA:32696 UMLS:C0225653 EHDAA:8203 EHDAA:4993 FMA:7406 EHDAA:4985 EHDAA:4977 EHDAA:4955 EHDAA:4963 EHDAA:8175 EHDAA:8225" + "The lobar bronchus is the major airway within the respiratory tree that starts by division of the principal bronchi on both sides and ends at the point of its own subdivision into tertiary or segmental bronchi[GO]." "SCTID:245509008 Wikipedia:Secondary_bronchus MA:0000437 EHDAA:8213 NCIT:C32998 EHDAA:8187 EMAPA:32696 UMLS:C0225653 EHDAA:8203 EHDAA:4993 FMA:7406 EHDAA:4977 EHDAA:4985 EHDAA:4955 EHDAA:4963 EHDAA:8175 EHDAA:8225" "The amount of a methylosome subunit pICln when measured in blood." "PMID:37794183" "The result of a measurement of circulating antibodies specific to a hepatitis A virus antigen." "PMID:37164013" "GARD:11009 Orphanet:280586 OMIM:614078 MEDGEN:481387 DOID:0112224 UMLS:C3279757" @@ -16037,7 +16038,7 @@ "OMIM:614592" "Midline deficiency of the mandible and some or all overlying tissues." "SNOMEDCT_US:92822004 UMLS:C0685786" "Any deviation from the normal range of the hormones produced by the thyroid gland." - "Inflammation of the oral mucosa due to local or systemic factors." "MESH:D013280 ICD10:K12 DOID:9637 ICD9:528.00 MEDGEN:52511 ICD9:528.0 UMLS:C0038362 NCIT:C26887 MedDRA:10042128 SCTID:61170000 MONDO:0004842" + "Inflammation of the oral mucosa due to local or systemic factors." "MESH:D013280 ICD10:K12 DOID:9637 ICD9:528.00 MEDGEN:52511 ICD9:528.0 NCIT:C26887 UMLS:C0038362 MedDRA:10042128 SCTID:61170000 MONDO:0004842" "An abnormally high level of uric acid." "MedDRA:10020907 HP:0002149" "The determination of the ratio of Hemoglobin C compared to total Hemoglobin present in a sample. The measurement may be expressed as a ratio or percentage. [ NCI ]" "NCIt:C81278 UMLS:C2825556" "The amount of a draxin when measured in blood serum." @@ -16066,7 +16067,7 @@ "A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable." "NANDO:2201361 GARD:8754 DOID:0111588 MEDGEN:418969 SCTID:389261002 Orphanet:1426 OMIM:215140 icd11.foundation:1858458540 UMLS:C2931048 MESH:C535858" "The amount of a programmed cell death protein 4 when measured in blood serum." - "Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine." "MEDGEN:199627 NANDO:2201081 GARD:17266 UMLS:C0751285 Orphanet:268184" + "Thiamine-responsive maple syrup urine disease (thiamine-responsive MSUD) is a less severe variant of MSUD that manifests with a phenotype similar to intermediate MSUD but that responds positively to treatment with thiamine." "MEDGEN:199627 NANDO:2201081 UMLS:C0751285 GARD:17266 Orphanet:268184" "An instance of neuroendocrine neoplasm that is caused by an inherited modification of the individual's genome." "Orphanet:271847 UMLS:CN202530" "A C-nitro compound that is nitrobenzene in which every hydrogen has been replaced by a chlorine. A fungicide used on a variety of crops, including cotton, rice and seed grains, it is no longer approved for use within the European Union." "CiteXplore:IND86085618 SNOMEDCT:83672008 CiteXplore:20022079 CiteXplore:19959285 ChemIDplus:82-68-8 ChEMBL:542755 CiteXplore:7445521 AGR:IND86085618 Wikipedia:Pentachloronitrobenzene PPDB:581 PMID:22112041 Patent:US7629159 NIST Chemistry WebBook:82-68-8 CiteXplore:19298997 KEGG COMPOUND:C14338 PMID:19298997 KEGG:C14338 PMID:3311683 Pesticides:quintozene CiteXplore:20560598 PMID:20131084 PMID:22074892 CAS:82-68-8 Reaxys:1914324 PMID:23454455 PMID:7027636 CiteXplore:22112041 CiteXplore:3311683 PMID:20560598 MeSH:C005805 CiteXplore:19429557 CiteXplore:22074892 PMID:19959285 PMID:18294675 PMID:23474338 CiteXplore:20131084 CiteXplore:18294675 KEGG COMPOUND:82-68-8 PMID:20022079 PMID:7445521 PMID:19429557 CiteXplore:7027636" "A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)" "UMLS:C0085541 MEDGEN:39074 DOID:3331 SCTID:230394006 MESH:D017034" @@ -16241,7 +16242,7 @@ "MeSH:D020358 Beilstein:4289807 ChemIDplus:361-09-1 \"CAS Registry Number\" Beilstein:4289807 \"Beilstein Registry Number\" CAS:361-09-1" "A type of inflammatory arthritis associated with PSORIASIS, often involving the axial joints and the peripheral terminal interphalangeal joints. It is characterized by the presence of HLA-B27-associated SPONDYLARTHROPATHY, and the absence of rheumatoid factor." "UMLS:C0003872 MeSH:D015535 SCTID:156370009 ICD10:M07 MESH:D015535 NCIT:C61277 OMIM:607507 NCIt:C61277 ICD9:696.0 Orphanet:40050 DOID:9008 MONDO:0011849 icd11.foundation:868183264 MEDGEN:2077 MedDRA:10037160 NANDO:2201059" "Wagner disease is a rare hereditary vitreoretinopathy characterized by an anomaleous vitreous associated with myopia, cataract, chorioretinal atrophy, and peripheral tractional or rhegmatogenous retinal detachment." "MEDGEN:326741 icd11.foundation:780893571 Orphanet:898 MESH:C536075 ICD10CM:H35.5 SCTID:232064001 OMIM:143200 MedDRA:10063383 UMLS:C1840452 GARD:7871" - "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic." "ICD9:276.2 MedDRA:10000486 MONDO:0006022 MeSH:D000138 UMLS:C0001122 SNOMEDCT:51387008 NCIt:C83504 HP:0001941 SCTID:51387008 MEDGEN:1296" + "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic." "ICD9:276.2 MedDRA:10000486 MONDO:0006022 MeSH:D000138 UMLS:C0001122 SNOMEDCT:51387008 HP:0001941 NCIt:C83504 SCTID:51387008 MEDGEN:1296" "quantification of the amount of asymmetrical dimethylarginine in blood. It is a structural isomer of asymmetric dimethyl argigine. It has been reported to be a marker for kidney disease, often used a predictor of all-cause mortality after ischemic stroke" "Pneumovirus infections caused by the RESPIRATORY SYNCYTIAL VIRUSES. Humans and cattle are most affected but infections in goats and sheep have been reported." "UMLS:C0035235 SNOMEDCT:55735004 MEDGEN:48424 MeSH:D018357 MONDO:0001577 DOID:1273 NCIt:C3354 MedDRA:10061603 SCTID:55735004 MESH:D018357 NCIT:C3354" "Combines in-cell probing of RNA structure with a measurement of gene expression to simultaneously characterize RNA structure and function in bacterial cells" "PMID:26350218" @@ -17513,7 +17514,7 @@ "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." "ICD10:G24 UMLS:C4020871 UMLS:C0013421" "OMIM:106100 MeSH:D054179" "An aggressive malignant smooth muscle neoplasm, arising from the lung. It is characterized by a proliferation of neoplastic spindle cells." "NCIT:C5667 UMLS:C1334448 DOID:5265 MEDGEN:232711" - "An amidobenzoic acid obtained by formal condensation of the carboxy group of (5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)benzoic acid with the anilino group of 4-aminobenzoic acid. A selective RARalpha agonist." "PMID:21150871 Reaxys:3565084 ChemIDplus:3565084 CiteXplore:21715427 CiteXplore:20453882 PMID:19700416 ChEMBL:209312 CiteXplore:21150871 CiteXplore:18416830 ChemIDplus:102121-60-8 CAS:102121-60-8 PDB:3KMR PMID:22353356 PMID:22258322 PMID:20453882 MeSH:C068073 CiteXplore:19700416 CiteXplore:20147703 KEGG:C15619 PMID:21715427 PMID:18271925 PMID:19790202 CiteXplore:22258322 PMID:18416830 CiteXplore:19790202 PMID:20147703 PMID:21310893 CiteXplore:21310893 CiteXplore:22353356 Beilstein:3565084 CiteXplore:18271925 LINCS:LSM-2132" + "An amidobenzoic acid obtained by formal condensation of the carboxy group of (5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)benzoic acid with the anilino group of 4-aminobenzoic acid. A selective RARalpha agonist." "PMID:21150871 Reaxys:3565084 ChemIDplus:3565084 CiteXplore:21715427 CiteXplore:20453882 PMID:19700416 ChEMBL:209312 CiteXplore:21150871 CiteXplore:18416830 ChemIDplus:102121-60-8 CAS:102121-60-8 PDB:3KMR PMID:22353356 PMID:20453882 PMID:22258322 MeSH:C068073 CiteXplore:19700416 CiteXplore:20147703 KEGG:C15619 PMID:21715427 PMID:18271925 PMID:19790202 CiteXplore:22258322 PMID:18416830 CiteXplore:19790202 PMID:20147703 PMID:21310893 CiteXplore:21310893 CiteXplore:22353356 Beilstein:3565084 CiteXplore:18271925 LINCS:LSM-2132" "A WHO grade I meningioma characterized by the coexistence of meningothelial cells and fibrous architectural patterns." "NCIt:C4333" "MEDGEN:1616061 UMLS:C4540293 OMIM:617744" "Quantification of Fc receptor-like protein 2 in a sample." "PMID:29875488" @@ -17613,7 +17614,7 @@ "A hydrate of nickel chloride containing nickel (in the +2 oxidation state), chloride and water moeities in the ratio 1:2:6." "PMID:11739495 Gmelin:10512 PMID:15191398 PMID:23821107 Reaxys:16506017 PMID:29079364 PMID:14734778 CAS:7791-20-0 PMID:22975724 PMID:22234432" "The term gait disturbance can refer to any disruption of the ability to walk." "UMLS:C0575081 SNOMEDCT_US:22325002" - "Area of uterine endometrium found between the implanted chorionic vesicle and the myometrium." "NCIT:C32426 UMLS:C0230965 SCTID:362841006 FMA:86477 BTO:0002819 EFO:0001918 EMAPA:35270 MA:0002905" + "Area of uterine endometrium found between the implanted chorionic vesicle and the myometrium." "NCIT:C32426 UMLS:C0230965 SCTID:362841006 FMA:86477 BTO:0002819 EMAPA:35270 EFO:0001918 MA:0002905" "The amount of a DNA repair protein RAD51 homolog 4 when measured in blood serum." "The amount of a endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase when measured in blood serum." "The amount of a glycerol-3-phosphate dehydrogenase [NAD(+)], cytoplasmic when measured in blood serum." @@ -19115,7 +19116,7 @@ "A cardinal organ part that is the central column of a plant axis that consists of the primary vascular tissue and associated ground tissue." "Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease." "ICD10:H35.0 OMIM:617341 OMIM:612199" - "An arrangement of nerve fibers, running from the spine where it proceeds through the neck then the axilla and into the arm where it innervates skin and muscle. [WP,modified]." "UMLS:C0006090 EHDAA:3782 FMA:5906 VHOG:0000372 NCIT:C12682 MA:0001180 GAID:842 EMAPA:16988 EHDAA2:0000180 MESH:D001917 SCTID:181002002 Wikipedia:Brachial_plexus" + "An arrangement of nerve fibers, running from the spine where it proceeds through the neck then the axilla and into the arm where it innervates skin and muscle. [WP,modified]." "UMLS:C0006090 EHDAA:3782 FMA:5906 VHOG:0000372 NCIT:C12682 MA:0001180 GAID:842 EMAPA:16988 EHDAA2:0000180 SCTID:181002002 MESH:D001917 Wikipedia:Brachial_plexus" "The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported." "MEDGEN:541286 DOID:14756 UMLS:C0268339 OMIM:130050" "A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance." "MEDGEN:66773 ONCOTREE:THPA NCIT:C4035 UMLS:C0238463 DOID:3969 HP:0002895 GARD:0012027 EFO:0000641 OMIM:188550 MONDO:0005075 SCTID:255029007" "UMLS:C0796123 OMIM:212710 MeSH:C538283" @@ -21026,7 +21027,7 @@ "Congenitally corrected transposition (CCT) of the great vessels is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations." "UMLS:C0344616 NANDO:2200259 NANDO:1200699 NANDO:1200701 NANDO:1200703 Orphanet:216694 icd11.foundation:254915185 GARD:1544 NANDO:2100079 MESH:D000080041 ICD9:745.12 MedDRA:10011120 NCIT:C98902 MEDGEN:87489 SCTID:83799000" "Epispadias is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC) and is characterized in males by an ectopic meatus or a mucosal strip in place of the urethra on the penile dorsum and in females by bifid clitoris and a variable cleft of the urethra." "SCTID:406476007 GARD:19235 Orphanet:93928 HP:0000039 MESH:D004842 MedDRA:10015088 icd11.foundation:397402420 NCIT:C98923 MEDGEN:41839 ICD9:752.62 UMLS:C0014588" "The determination of the amount of transforming growth factor beta-2 in a sample" "PMID:28240269" - "A racemate composed of (2S,3S)- and (2R,3R)-enantiomers of nemonapride. Highly potent dopamine D2-like receptor antagonist; selective over D1-like receptors (Ki values are 0.1 and 740 nM for D2-like and D1-like receptors respectively). Also potent 5-HT1A receptor agonist (IC50 = 34 nM) and has affinity for sigma receptors." "PMID:16020947 PMID:8328325 PMID:9369342 PMID:10917400 MeSH:C030265 CiteXplore:16020947 CiteXplore:11817505 PMID:9228185 PMID:11929700 PMID:9934942 CiteXplore:9095318 CiteXplore:10435376 PMID:10862524 PMID:10823405 KEGG:D01468 PMID:9095318 NCIt:C73036 KEGG COMPOUND:75272-39-8 PMID:10049714 PMID:10435376 PMID:9031995 CiteXplore:9774248 CiteXplore:9766869 CiteXplore:9369342 CiteXplore:10862524 CiteXplore:10049714 Patent:EP1273301 PMID:10363800 CiteXplore:11929700 KEGG COMPOUND:C12915 PMID:10587100 CiteXplore:10917400 CiteXplore:10898926 ChemIDplus:75272-39-8 CiteXplore:9934942 PMID:9766869 PMID:9310388 PMID:10898926 Wikipedia:Nemonapride CiteXplore:9325557 Patent:US5811547 CiteXplore:10823405 PMID:9016292 Drug_Central:1895 KEGG DRUG:D01468 CiteXplore:9228185 Reaxys:5766104 PMID:11817505 KEGG:C12915 CAS:75272-39-8 CiteXplore:10587100 PMID:9774248 PMID:9325557 CiteXplore:9310388 CiteXplore:10363800" + "A racemate composed of (2S,3S)- and (2R,3R)-enantiomers of nemonapride. Highly potent dopamine D2-like receptor antagonist; selective over D1-like receptors (Ki values are 0.1 and 740 nM for D2-like and D1-like receptors respectively). Also potent 5-HT1A receptor agonist (IC50 = 34 nM) and has affinity for sigma receptors." "PMID:16020947 PMID:8328325 PMID:9369342 PMID:10917400 MeSH:C030265 CiteXplore:16020947 CiteXplore:11817505 PMID:9228185 PMID:11929700 PMID:9934942 CiteXplore:9095318 CiteXplore:10435376 PMID:10862524 PMID:10823405 KEGG:D01468 PMID:9095318 NCIt:C73036 KEGG COMPOUND:75272-39-8 PMID:10049714 PMID:10435376 PMID:9031995 CiteXplore:9774248 CiteXplore:9766869 CiteXplore:9369342 CiteXplore:10862524 CiteXplore:10049714 Patent:EP1273301 PMID:10363800 CiteXplore:11929700 KEGG COMPOUND:C12915 PMID:10587100 CiteXplore:10917400 CiteXplore:10898926 ChemIDplus:75272-39-8 PMID:9766869 CiteXplore:9934942 PMID:9310388 PMID:10898926 Wikipedia:Nemonapride CiteXplore:9325557 Patent:US5811547 CiteXplore:10823405 PMID:9016292 Drug_Central:1895 KEGG DRUG:D01468 CiteXplore:9228185 Reaxys:5766104 PMID:11817505 KEGG:C12915 CAS:75272-39-8 CiteXplore:10587100 PMID:9774248 PMID:9325557 CiteXplore:9310388 CiteXplore:10363800" "Quantification of t-cell surface antigen CD2 in a sample." "PMID:29875488" "Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is a form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases." "DOID:0110285 Orphanet:254361 MEDGEN:462339 GARD:12542 UMLS:C3150989 OMIM:613723" "Diffuse large B-cell lymphoma is the most common subtype of non-Hodgkin lymphoma (NHL) in adults characterized by a median age of presentation in the sixth decade of life (but also rarely occurring in adolescents and children) with the initial presentation being single or multiple rapidly growing masses (that may or may not be painful) in nodal or extranodal sites (such as thyroid, skin, breast, gastrointestinal tract, testes, bone, or brain) and that can be accompanied by symptoms of fever, night sweats and weight loss. DLBCL has an aggressive disease course, with the elderly having a poorer prognosis than younger patients, and with relapses being common." "MONDO:0018905 ICD10:C83.3 NCIT:C8851 Orphanet:544 DOID:0050745 ICD9:200.7 UMLS:C0079744 MedDRA:10012818 ICDO:9680/3 EFO:0000403 icd11.foundation:1946973604 GARD:0003178 GARD:3178 MEDGEN:86954 MESH:D016403" @@ -21119,7 +21120,7 @@ "The walking appendages of each segment of the ventral adult external thorax." "MAT:0000095 FBbt:00004640 NCIt:C32974 TGMA:0000164 TADS:0000002 MeSH:D007866" "Chromatin affinity purification from specific cell types by chromatin immunoprecipitation (CAST-ChIP)" "PMID:24095734" - "A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" "ICD9:357.3 NCIt:C3981 MESH:D020364 DOID:8681 MEDGEN:124380 MedDRA:10062289 MeSH:D020364 UMLS:C0270932 NCIT:C3981 SCTID:77659000 MONDO:0006888" + "A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" "NCIt:C3981 MESH:D020364 DOID:8681 MEDGEN:124380 MedDRA:10062289 MeSH:D020364 UMLS:C0270932 NCIT:C3981 SCTID:77659000 MONDO:0006888 ICD9:357.3" "A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type." "MeSH:D001289 MedDRA:10003736 MedDRA:10083622 NCIT:C97160 OMIM:613003 OMIM:143465 MONDO:0007743 SNOMEDCT:406506008 NCIt:C97160 UMLS:C1263846 MedDRA:10003735 ICD9:314.01 MEDGEN:220387 DOID:1094" @@ -22691,7 +22692,7 @@ "A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003" "NCIT:C9005 OMIM:618680 ICD9:157.2 ICD9:157.0 ICD9:157.8 ICD9:157.1 MONDO:0009831 DOID:1793 NCIt:C9005" "A wart in the plantar surface of the foot. It is caused by human papillomavirus." "SCTID:63440008 ICD10:B07.0 EFO:1002023 NCIT:C26913 ICD9:078.12 MONDO:0001795 DOID:13775 UMLS:C0042548 ICD10CM:B07.0 MEDGEN:53003 COHD:137785" "A carcinoma that arises from epithelial cells of the penis" "MEDGEN:208877 UMLS:C0853105 DOID:3449 EFO:1000465 NCIT:C9061 SCTID:372106005 GARD:0009366 MONDO:0006360" - "An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease." "ICD9:569.49 MeSH:D011349 SNOMEDCT:3951002 NCIt:C38011 SCTID:3951002 NCIT:C38011 MEDGEN:46113 DOID:3127 MedDRA:10036774 UMLS:C0033246 MESH:D011349 MONDO:0005538" + "An inflammatory process affecting the anus. It is usually caused by sexually transmitted infectious agents and/or inflammatory bowel disease." "ICD9:569.49 MeSH:D011349 SNOMEDCT:3951002 NCIt:C38011 SCTID:3951002 MEDGEN:46113 DOID:3127 NCIT:C38011 MedDRA:10036774 UMLS:C0033246 MESH:D011349 MONDO:0005538" "The most anterior region the brain including both the telencephalon and diencephalon." "NIFSTD:birnlex_1509 MFO:0002260 MA:0000170 ZFA:0000109 EMAPA:16895 EHDAA:3470 XAO:0000011 MAT:0000105 SAEL:43 TAO:0000109 FMA:61992 BTO:0000478" "immortal continuous human mammary epithelial cells" "PMID:3857588 CLO:0001137 RRID:CVCL_3040" @@ -22890,7 +22891,7 @@ "Quantification of interferon alpha-8 in a sample." "PMID:29875488" "Toxicity that causes injury to the liver or impairs the liver function. Usually caused by exposure to xenobiotics such as drugs, food additives, alcohol, chlorinated solvents, peroxidized fatty acids, fungal toxins, radioactive isotopes, environmental toxicants, and some medicinal plants. This can include cholestasis, liver injury, hepatitis, jaundice. " "MedDRA:10019851 MeSH:D056486" - "The fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening." "XAO:0000153 SCTID:302513006 MESH:D014521 CALOHA:TS-1132 MIAA:0000121 EFO:0000931 Wikipedia:Urethra GAID:390 EMAPA:30901 UMLS:C0041967 NCIT:C12417 BTO:0001426 MA:0000379 VHOG:0001264 FMA:19667 MAT:0000121 EV:0100099 galen:Urethra" + "The fibromuscular tubular canal through which urine is discharged from the bladder to the exterior via the external urinary meatus; in males, the urethra is joined by the ejaculatory ducts and serves as a passageway for semen during ejaculation, as well as a canal for urine during voiding; in females, the urethra is shorter and emerges above the vaginal opening." "XAO:0000153 SCTID:302513006 MESH:D014521 CALOHA:TS-1132 MIAA:0000121 EFO:0000931 Wikipedia:Urethra GAID:390 EMAPA:30901 UMLS:C0041967 NCIT:C12417 BTO:0001426 MA:0000379 VHOG:0001264 MAT:0000121 FMA:19667 EV:0100099 galen:Urethra" "A histological variant of medulloblastoma, an embryonic malignancy, often located in one of the cerebellar hemispheres, occurring most frequently in adults and manifesting with symptoms such as vomiting and headache." "UMLS:C0751291 NCIT:C4956 GARD:17215 ONCOTREE:DMBL Orphanet:251863 ICDO:9471/3 MEDGEN:148272" "A pneumonia that is caused by the bacterial genus Rickettsia. This infection results in pleural effusions and pulmonary edema." "UMLS:C0032307 MESH:D011022 SCTID:233621003 ICD9:484.8 MEDGEN:45973 DOID:13275 MONDO:0005947 MeSH:D011022" "Quantification of the amount of D-Erythronolactone in a sample." "PMID:33634981" @@ -23035,7 +23036,7 @@ "Neutropenia-monocytopenia-deafness syndrome is characterized by neutropenia with myeloid marrow hypoplasia, monocytopenia, and congenital deafness. It has been described in three siblings who suffered recurrent bacterial infections." "MEDGEN:1383523 UMLS:C4518430 Orphanet:2690 GARD:3982" "The amount of a thioredoxin domain-containing protein 5 when measured in blood serum." - "Inflammation of the KIDNEY PELVIS and KIDNEY CALICES where urine is collected before discharge, but does not involve the renal parenchyma (the NEPHRONS) where urine is processed." "MEDGEN:48268 MedDRA:10037586 NCIT:C34964 MONDO:0006938 SCTID:27174002 UMLS:C0034183 MESH:D011702 DOID:2744 MeSH:D011702 NCIt:C34964 MedDRA:10037584 SNOMEDCT:27174002" + "Inflammation of the KIDNEY PELVIS and KIDNEY CALICES where urine is collected before discharge, but does not involve the renal parenchyma (the NEPHRONS) where urine is processed." "MEDGEN:48268 MedDRA:10037586 NCIT:C34964 MONDO:0006938 SCTID:27174002 UMLS:C0034183 MESH:D011702 DOID:2744 NCIt:C34964 MeSH:D011702 MedDRA:10037584 SNOMEDCT:27174002" "quantification of the amount of C-C motif chemokine 25 in a sample" "A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough." "MEDGEN:9705 DOID:10457 NCIT:C128339 MeSH:D007877 MONDO:0005824 NORD:1354 SCTID:195889001 MESH:D007877 UMLS:C0023241 ICD9:482.84" "Quantification of the amount of phosphatidylcholine (O-18:1/20:4, O-16:0/22:5n3) in a sample." "PMID:35347128" @@ -23107,7 +23108,7 @@ "Inflammation of the parotid glands." "MEDGEN:45335 MeSH:D010309 SCTID:14756005 MedDRA:10034038 MESH:D010309 NCIT:C114281 UMLS:C0030583 MONDO:0005900 DOID:10301" "Quantification of MIP18 family protein FAM96A in a sample." "PMID:29875488" "OMIM:128101 ICD10:G24.1" - "The layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter." "UMLS:C0599297 TAO:0005285 ZFA:0005285 Wikipedia:Glomerular_basement_membrane EMAPA:28251 NCIT:C32683 MESH:D050533 SCTID:243897006 FMA:74274 MA:0001659 EMAPA:30965" + "The layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter." "TAO:0005285 UMLS:C0599297 ZFA:0005285 Wikipedia:Glomerular_basement_membrane EMAPA:28251 NCIT:C32683 MESH:D050533 SCTID:243897006 FMA:74274 MA:0001659 EMAPA:30965" "The determination of the amount of ubiquitin-like protein ISG15 in a sample" "PMID:34814699" "Quantification of the amount of X-13477 in a sample." "PMID:24816252" @@ -24517,7 +24518,7 @@ "A cyclooxygenase inhibitor that interferes with the action of cyclooxygenase 2." "NCIt:C80509 SNOMEDCT:387050005 Wikipedia:Prostaglandin-endoperoxide_synthase_2 SNOMEDCT:123954005" "Any retinopathy caused by a variant or variants in the PRPH2 gene." - "A bone in the skull that separates the nasal cavity from the brain. As such, it is located at the roof of the nose, between the two orbits. The cubical bone is lightweight due to a spongy construction. The ethmoid bone is one of the bones that makes up the orbit of the eye[WP]." "NCIT:C12711 Wikipedia:Ethmoid_bone VHOG:0001317 MESH:D005004 FMA:52740 EMAPA:19018 SCTID:272674006 BTO:0004140 MA:0001483 GAID:212 UMLS:C0015027" + "A bone in the skull that separates the nasal cavity from the brain. As such, it is located at the roof of the nose, between the two orbits. The cubical bone is lightweight due to a spongy construction. The ethmoid bone is one of the bones that makes up the orbit of the eye[WP]." "UMLS:C0015027 NCIT:C12711 Wikipedia:Ethmoid_bone VHOG:0001317 MESH:D005004 FMA:52740 EMAPA:19018 SCTID:272674006 BTO:0004140 MA:0001483 GAID:212" "The determination of the amount of epiregulin in a sample" "PMID:28240269" @@ -28149,7 +28150,7 @@ "GARD:22329 icd11.foundation:437591130 MEDGEN:908476 NANDO:1200193 Orphanet:576379 UMLS:C2349757" "The amount of a beta-2-glycoprotein 1 when measured in blood." "PMID:37794183" - "Inflammation of the GALLBLADDER wall in the absence of GALLSTONES." "MeSH:D042101 SCTID:19968009 DOID:2828 MEDGEN:82762 NCIT:C35578 MONDO:0006633 MESH:D042101 NCIt:C35578 MedDRA:10000347 UMLS:C0267841" + "Inflammation of the GALLBLADDER wall in the absence of GALLSTONES." "SCTID:19968009 MeSH:D042101 DOID:2828 MEDGEN:82762 NCIT:C35578 MONDO:0006633 MESH:D042101 NCIt:C35578 MedDRA:10000347 UMLS:C0267841" "A phyllome (PO:0006001) that is part of the corolla (PO:0009059), and is usually colored (not green)." "The amount of a L-lactate dehydrogenase C chain when measured in blood serum." "Infection with the respiratory syncytial virus, an RNA virus of the genus Pneumovirus, in the family Paramyxoviridae, which is characterized by the formation of syncytia in tissue culture. It causes minor respiratory infection with rhinitis and cough in adults, but is capable of causing severe bronchitis and bronchopneumonia in young children." "UMLS:C0035235 SNOMEDCT:55735004 MEDGEN:48424 MeSH:D018357 MONDO:0001577 DOID:1273 NCIt:C3354 MedDRA:10061603 SCTID:55735004 MESH:D018357 NCIT:C3354" @@ -28348,7 +28349,7 @@ "The amount of a C-X-C motif chemokine 2 when measured in blood serum." "A germinoma that arises from the pineal gland." "MEDGEN:208928 Orphanet:91352 UMLS:C0854912 DOID:7428 NCIT:C8712 GARD:19162" "Quantification of the amount of ras-related C3 botulinum toxin substrate 3 measurement in a sample." "PMID:36168886" - "Proctitis is an inflammation of the rectum." "ICD9:569.49 MeSH:D011349 SNOMEDCT:3951002 NCIt:C38011 SCTID:3951002 NCIT:C38011 MEDGEN:46113 DOID:3127 MedDRA:10036774 UMLS:C0033246 MESH:D011349 MONDO:0005538" + "Proctitis is an inflammation of the rectum." "ICD9:569.49 MeSH:D011349 SNOMEDCT:3951002 NCIt:C38011 SCTID:3951002 MEDGEN:46113 DOID:3127 NCIT:C38011 MedDRA:10036774 UMLS:C0033246 MESH:D011349 MONDO:0005538" "ICD10:Q98.8" "Abnormal rhythm of the heart." "UMLS:C0522055 SNOMEDCT_US:102594003" @@ -29208,7 +29209,7 @@ "An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities." "UMLS:C4025797" "Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976." "BTO:0000738 RRID:CVCL_0002 NCIt:C19433 CLO:0003775" "GARD:19606 icd11.foundation:1595154985 DOID:0111720 UMLS:C0152454 MEDGEN:509041 Orphanet:98948" - "A parasympathetic ganglion located in the posterior orbit that contains preganglionic nerves and postganglionic neurons of the oculomotor nerve, connects to the Edinger-Westphal nucleus via the oculomotor nerve and the eye muscles via the short ciliary nerve." "BAMS:GcIII VHOG:0000805 EHDAA2:0000251 Wikipedia:Ciliary_ganglion NLXANAT:100304 EMAPA:18222 EFO:0002559 EHDAA:5623 MA:0001136 SCTID:279281007 FMA:6964" + "A parasympathetic ganglion located in the posterior orbit that contains preganglionic nerves and postganglionic neurons of the oculomotor nerve, connects to the Edinger-Westphal nucleus via the oculomotor nerve and the eye muscles via the short ciliary nerve." "BAMS:GcIII VHOG:0000805 EHDAA2:0000251 Wikipedia:Ciliary_ganglion NLXANAT:100304 EMAPA:18222 EFO:0002559 EHDAA:5623 SCTID:279281007 MA:0001136 FMA:6964" "A syndrome characterized by retropatellar or peripatellar pain resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) chondromalacia patellae, the latter describing a pathological condition of the cartilage and not a syndrome." "SNOMEDCT:430725003 MONDO:0006894 UMLS:C0877149 MEDGEN:164080 SCTID:430725003 MESH:D046788 MeSH:D046788 MedDRA:10049143 DOID:14284" "The amount of a EH domain-containing protein 3 when measured in blood serum." @@ -29571,7 +29572,7 @@ "Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms)." "OMIM:613828 OMIM:612279 OMIM:604403 OMIM:604233 OMIM:613863 ICD10:G40.3 OMIM:618482 OMIM:613060 OMIM:611277 OMIM:616172 OMIM:609800" "A drug dependence that is a psychological dependency on the regular use of cocaine." "MedDRA:10009818 NCIt:C34492 DOID:9975 ICD9:304.2 MedDRA:10009817 MedDRA:10009821 ICD10:F14 SCTID:31956009 ICD9:304.20 SNOMEDCT:31956009 MedDRA:10009819 NCIT:C34492 MEDGEN:154705 MedDRA:10009820 icd11.foundation:1691013484 MONDO:0005186 UMLS:C0600427" "A benign neoplasm that involves the pericardium." "NCIT:C8536 MEDGEN:151928 icd11.foundation:1296244385 SCTID:92289001 UMLS:C0685118" - "CLO:0007636 BTO:0001569 RRID:CVCL_0620" + "RRID:CVCL_0620 CLO:0007636 BTO:0001569" "A group of neoplasms that arise from the ovary and represent a spectrum of tumors ranging from neoplasms that are composed entirely of fibroblasts to those that are composed predominantly of theca cells." "NCIt:C7290" "A form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility." "NANDO:1200649 DOID:0080734 NCIT:C125700 MEDGEN:75672 MESH:C536198 GARD:22216 UMLS:C0268342 Orphanet:1900 OMIM:225400 SCTID:718211004 NANDO:2201259" @@ -32027,7 +32028,7 @@ "Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene." "OMIM:616006 GARD:16047 UMLS:C4014939 MEDGEN:863376" "An characteristic of a disease in which the disease is not manifested as an isolated feature but has multiple distinct features." - "A vascular disease characterized by the presence of enlarged and tortuous veins." "OMIM:192200 MEDGEN:21827 SCTID:128060009 MESH:D014648 ICD9:454.9 ICD9:456.8 NCIT:C35114 UMLS:C0042345 DOID:799" + "A vascular disease characterized by the presence of enlarged and tortuous veins." "OMIM:192200 MEDGEN:21827 MESH:D014648 SCTID:128060009 ICD9:454.9 ICD9:456.8 NCIT:C35114 UMLS:C0042345 DOID:799" "UMLS:C4540096 Orphanet:502423 OMIM:617675 MEDGEN:1620960 GARD:17934" "A germinal center B cell that is rapidly dividing and has the phenotype IgD-negative, CD38-positive, and CD77-positive. Somatic hypermutation of the immunoglobulin V gene region can occur during proliferation of this cell type." @@ -32307,7 +32308,7 @@ "The amount of a peptidyl-prolyl cis-trans isomerase FKBP3 when measured in blood serum." "Gaucher's disease" "Thiemann disease is a very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course." "ICD10:M93.2 OMIM:165700" - "The major postaxial endochondral bone in the anterior zeugopod[Phenoscape]." "FMA:23466 SCTID:181948009 VSAO:0005013 UMLS:C0041600 MESH:D014457 GAID:188 AAO:0000789 EMAPA:19104 Wikipedia:Ulna MA:0001358 galen:Ulna NCIT:C12809" + "The major postaxial endochondral bone in the anterior zeugopod[Phenoscape]." "SCTID:181948009 FMA:23466 VSAO:0005013 UMLS:C0041600 GAID:188 AAO:0000789 EMAPA:19104 MESH:D014457 Wikipedia:Ulna MA:0001358 galen:Ulna NCIT:C12809" "A neoplasm (disease) that involves the gall bladder." "MONDO:0021253 MeSH:D005706 MESH:D005706 NCIT:C3048 MEDGEN:42134 UMLS:C0016978" @@ -32327,7 +32328,7 @@ "The determination of the amount of lymphocyte activation gene 3 protein in a sample" "PMID:28240269" "Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum fusobacteria." "MESH:D045825 MeSH:D045825 UMLS:C1258222 MEDGEN:263530 DOID:563 MONDO:0006925" "An extra-adrenal sympathetic paraganglioma of the bladder that metastasizes to other anatomic sites." "NCIt:C6416" - "Chronic rhinosinusitis is a heterogeneous disease characterized by local inflammation of the upper airways and sinuses which persists for at least 12 weeks" "SCTID:40055000 ICD9:473.9 UMLS:C0149516 MONDO:0006031 MEDGEN:101751 NCIT:C35151 icd11.foundation:1836987572 ICD9:473.8 PMID:25838086" + "Chronic rhinosinusitis is a heterogeneous disease characterized by local inflammation of the upper airways and sinuses which persists for at least 12 weeks" "SCTID:40055000 ICD9:473.9 UMLS:C0149516 MEDGEN:101751 MONDO:0006031 NCIT:C35151 icd11.foundation:1836987572 ICD9:473.8 PMID:25838086" "The amount of a C-type lectin domain family 10 member A when measured in blood." "PMID:37794183" "Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity." "MEDGEN:1647210 OMIMPS:208085 SCTID:720513002 DOID:0050763 MESH:C535382 Orphanet:2697 GARD:794 UMLS:C4551984" "A specialized examination or inspection meant to identifying an increased risk of neoplasm." @@ -32747,7 +32748,7 @@ "Quantification of uncharacterized protein KIAA0040 in a sample." "PMID:29875488" "Any vein not in the chest or abdomen." "An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine." "NANDO:2100121 MEDGEN:424854 NANDO:1200395 DOID:11633 MESH:D018382 UMLS:C2940786 ICD9:259.8 SCTID:111567006 NANDO:2200341" - "The thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected." "EHDAA2:0000116 EMAPA:16109 BTO:0000065 MESH:D000650 EV:0100122 Wikipedia:Amnion SCTID:181457005 VHOG:0000721 CALOHA:TS-0033 EHDAA:136 GAID:1298 NCIT:C12365 UMLS:C0002630 FMA:80223" + "The thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected." "EMAPA:16109 BTO:0000065 MESH:D000650 EV:0100122 Wikipedia:Amnion SCTID:181457005 VHOG:0000721 CALOHA:TS-0033 EHDAA:136 GAID:1298 NCIT:C12365 UMLS:C0002630 FMA:80223 EHDAA2:0000116" "An autosomal dominant neurodevelopmental condition related to variants in CACNA1D. Most reported variants are de novo and functional studies have indicated a gain-of-function disease mechanism. This condition is characterized by developmental delay/intellectual disability, autism spectrum disorder, hypotonia and seizures. Other reported features include endocrine abnormalities such as primary aldosteronism and congenital hyperinsulinemic hypoglycemia, self-injurious behavior, facial dysmorphisms, and heart defects." "OMIM:615474 UMLS:C3809609 MEDGEN:815939 GARD:17591 Orphanet:369929" "Any endothelial cell of vascular tree that is part of some lung." @@ -32846,7 +32847,7 @@ "ICD10:E88.1" "GLUT1 deficiency syndrome is a disorder affecting the nervous system that can have a variety of neurological signs and symptoms." "Distal trisomy 20q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 20, with high phenotypic variability mostly characterized by neurodevelopmental delay, cardiac malformations (e.g. ventricular septal defect, coarctation of aorta) and facial dysmorphism (incl. large/high forehead, microphthalmia, upslanting palpebral fissures, epicanthus, large, long, low-set ears, anteverted nares, protruding upper lip, cleft lip/palate, micro/retrognathia, dimpled chin). Skeletal (brachydactyly, scoliosis, pectus excavatum) and cerebral anomalies have also been reported." "UMLS:C4706935 SCTID:764500002 Orphanet:96107 GARD:19321 MEDGEN:1636588" - "INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." "UMLS:C0030305 NCIT:C3306 SNOMEDCT:75694006 MONDO:0004982 MeSH:D010195 DOID:4989 MEDGEN:14586 NCIt:C3306 MedDRA:10033645 SCTID:75694006 MESH:D010195" + "INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis." "UMLS:C0030305 NCIT:C3306 SNOMEDCT:75694006 MONDO:0004982 MeSH:D010195 DOID:4989 NCIt:C3306 MEDGEN:14586 MedDRA:10033645 SCTID:75694006 MESH:D010195" "Virus diseases caused by coronaviridae." "UMLS:C0010078 MEDGEN:40491 MeSH:D003333 DOID:2948 MONDO:0005718" "CLO:0009902 NCIt:C117169 BTO:0003772 RRID:CVCL_1689" "Quantification of killer cell immunoglobulin-like receptor 2DL5A in a sample." "PMID:29875488" @@ -34187,7 +34188,7 @@ "Single cell sequencing process using an approach where only a short fragment (tag) at a defined position in each RNA molecule is sequenced" "Quantification of cholesteryl esters to total lipids in medium VLDL." "\nMouse, BALB/cxNZB F1, lymphoblastic lymphoma cell line. Morphology: Lymphoblast Mouse B cell lymphoma.\n" - "Bacterial diseases that are potentially transmitted or propagated by sexual conduct." "MONDO:0005323 MeSH:D015231 UMLS:C0036917 MESH:D015231 MEDGEN:20728 ICD10:A63" + "Bacterial diseases that are potentially transmitted or propagated by sexual conduct." "MONDO:0005323 MeSH:D015231 UMLS:C0036917 MESH:D015231 ICD10:A63 MEDGEN:20728" "Congenital generalized hypertrichosis, Ambras type is an extremely rare type of hypertrichosis lanuginosa congenita, a congenital skin disease, that is characterized by the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes. Facial and dental anomalies can also be observed, such as triangular, coarse face, bulbous nasal tip, long palpebral fissures, delayed tooth eruption and absence of teeth." "OMIM:145701 Orphanet:1023 MEDGEN:333542 GARD:8206 UMLS:C1840362 DOID:0111060" "Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: normal, 46XY [95%]; abnormal, 47XY +1 [5%]. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4. [PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." "UMLS:C0268517 ICD10:E72.8" @@ -34209,7 +34210,7 @@ "MedDRA:10068349 UMLS:C2363744 Orphanet:289644 GARD:21147 MEDGEN:797800" "OMIM:604571 ICD10:D81.6" - "A lymphoma that involves the retina." "MEDGEN:83291 DOID:774 NCIT:C4365 SCTID:232075002 UMLS:C0339556 ICD9:198.4" + "A lymphoma that involves the retina." "MEDGEN:83291 DOID:774 SCTID:232075002 NCIT:C4365 UMLS:C0339556 ICD9:198.4" "A alpha-beta intraepithelial T cell found in the columnar epithelium of the gastrointestinal tract. Intraepithelial T cells often have distinct developmental pathways and activation requirements." "Cardiac septum which separates the right ventricle from the left ventricle.[FMA]." "BTO:0002483 NCIT:C32874 MA:0000085 EHDAA:2603 EMAPA:17333 VHOG:0000386 UMLS:C0225870 Wikipedia:Interventricular_septum EFO:0001956 SCTID:362019005 galen:InterventricularSeptum FMA:7133" "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene." "MEDGEN:413981 UMLS:C2751319 GARD:16501 OMIM:613077 MESH:C567768 DOID:0111518" @@ -35319,7 +35320,7 @@ "Tumoral calcinosis is a phosphocalcic metabolism anomaly, particularly among younger age groups and characterized by the presence of calcified masses in the juxta-articular regions (hip, elbow, ankle and scapula) without joint involvement. Histologically, lesions dysplay collagen necrobiosis, followed by cyst formation and a foreign-body response with calcification Two forms of tumoral calcinosis have been described: normocalcemic tumoral calcinosis and familial tumoral calcinosis." "DC:0000445 ICD10:M11.2 GARD:0010877 MedDRA:10059364 Orphanet:53715" "Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles." "SNOMEDCT_US:270492004 UMLS:C0085614" "An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood." "SCTID:31712002 NANDO:1200439 ICD9:571.6 NCIT:C27167 MEDGEN:3035 UMLS:C0008312 GARD:7459 Orphanet:186 DOID:12236 SNOMEDCT:31712002 MedDRA:10019137 ICD10:K74.3 OMIMPS:109720 NCIt:C27167 MESH:D008105 MONDO:0005388 NORD:1604 MedDRA:10004661 icd11.foundation:649193479 MedDRA:10036680" - "An epithelial tube that is part of the nephron, the functional part of the kidney." "NCIT:C49274 CALOHA:TS-1262 FMA:15627 TAO:0001287 EMAPA:27782 UMLS:C0022674 EV:0100387 MA:0000377 MESH:D007684 ZFA:0001287 GAID:433 BTO:0000343 Wikipedia:Renal_tubule SCTID:361332007 EFO:0003666" + "An epithelial tube that is part of the nephron, the functional part of the kidney." "NCIT:C49274 CALOHA:TS-1262 FMA:15627 TAO:0001287 EMAPA:27782 UMLS:C0022674 EV:0100387 MA:0000377 MESH:D007684 GAID:433 ZFA:0001287 BTO:0000343 Wikipedia:Renal_tubule SCTID:361332007 EFO:0003666" "A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA48 is an autosomal dominant neurodegenerative disease characterized by onset in mid-adulthood of progressive cognitive decline and gait ataxia, and vermian and hemispheric cerebellar atrophy." "OMIM:618093" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a combination of chemotherapeutic agents. Chemotherapeutic drugs are often administered in combination in order to maximise treatment effect." @@ -35744,7 +35745,7 @@ "A sulfur oxoanion obtained by deprotonation of both OH groups of sulfuric acid." "KEGG:C00059 PMID:14597181 PMID:15984785 CAS:14808-79-8 Wikipedia:Sulfate PMID:19812358 PMID:18815700 PMID:16534979 Beilstein:3648446 PMID:17420092 PMID:18846414 KEGG:D05963 PDBeChem:SO4 PMID:16348007 PMID:17439666 PMID:17120760 MetaCyc:SULFATE PMID:16186560 HMDB:HMDB0001448 PMID:15093386 PMID:19244483 PMID:12668033 PMID:30398859 PMID:19628332 PMID:16656509 PMID:16483812 PMID:11798107 PMID:19544990 PMID:16345535 PMID:18398178 PMID:19047345 Reaxys:3648446 PMID:16742518 Gmelin:2120 PMID:17709180 PMID:16742508 PMID:11200094 PMID:16347366 PMID:11581495 PMID:12166931 PMID:11452993" "The number of cell passages if the organism or organism part that is cultured is unicellular or a cell culture; otherwise the number of generations." "NCIt:C88214 MO:43 NCIt:C48151" "The group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve)." "EHDAA:5567 Wikipedia:Geniculate_ganglion EHDAA:6644 NCIT:C12721 EHDAA2:0004623 FMA:53414 GAID:718 EFO:0003669 MA:0001076 SCTID:279076005 BAMS:GgVII ZFA:0001291 EHDAA2:0000491 MESH:D005830 TAO:0001291 EMAPA:17569 VHOG:0000707 neuronames:1535 UMLS:C0017406" - "Chronic form of sinusitis." "SCTID:40055000 ICD9:473.9 UMLS:C0149516 MONDO:0006031 MEDGEN:101751 NCIT:C35151 icd11.foundation:1836987572 ICD9:473.8 PMID:25838086" + "Chronic form of sinusitis." "SCTID:40055000 ICD9:473.9 UMLS:C0149516 MEDGEN:101751 MONDO:0006031 NCIT:C35151 icd11.foundation:1836987572 ICD9:473.8 PMID:25838086" "Quantification of cholesteryl ester 24:1 in a sample." "PMID:35668104" "Quantification of the amount of X-10346 in a sample." "PMID:24816252" @@ -36454,7 +36455,7 @@ "A cancer that involves the oral opening." "SCTID:187658004 ICD10CM:C06.1 UMLS:C0153374 DOID:9188 ICD9:145.1 MEDGEN:509267" "Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges." "OMIM:616920 ICD10:Q87.8 OMIM:124480" "FBbt:00005556" - "Inflammation of the spinal cord." "SCTID:41370002 MONDO:0002565 MESH:D009187 NCIT:C26832 icd11.foundation:1993728609 UMLS:C0026975 DOID:322 ICD9:323.9 MEDGEN:10230 MedDRA:10028524" + "Inflammation of the spinal cord." "SCTID:41370002 MONDO:0002565 MESH:D009187 NCIT:C26832 icd11.foundation:1993728609 UMLS:C0026975 ICD9:323.9 DOID:322 MEDGEN:10230 MedDRA:10028524" "The amount of a serine protease inhibitor Kazal-type 9 when measured in blood serum." "A melanoma that arises from the structures of the eye or ocular adnexa." "UMLS:C0558356 ONCOTREE:OM MONDO:0006325 EFO:1000403 NCIT:C8562 MEDGEN:107846 DOID:1752 GARD:0007236" @@ -36469,7 +36470,7 @@ "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the JPH2 gene." "OMIM:613873 UMLS:C3151264 DOID:0110323 MEDGEN:462614" "Quantification of the change in low density lipoprotein particle size levels in an individual over time, e.g. over the course of several hours after a high-fat meal." "PMID:34610981" - "Bacterial diseases transmitted or propagated by sexual conduct." "MONDO:0005323 MeSH:D015231 UMLS:C0036917 MESH:D015231 MEDGEN:20728 ICD10:A63" + "Bacterial diseases transmitted or propagated by sexual conduct." "MONDO:0005323 MeSH:D015231 UMLS:C0036917 MESH:D015231 ICD10:A63 MEDGEN:20728" "A 1,2-diacyl-sn-glycero-3-phosphocholine in which the acyl groups at C-1 and C-2 contain 40 carbons in total with 5 double bonds." "PMID:19347970" "Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches." "ICD9:350.1 icd11.foundation:1803581281 MedDRA:10044652 NORD:1791 ICD10:G50.0 MEDGEN:21683 MeSH:D014277 Orphanet:221091 MONDO:0008599 UMLS:C0040997 DOID:12098 GARD:7805 SNOMEDCT:31681005 OMIM:190400 MESH:D014277 SCTID:31681005 ICD10CM:G50.0" "Quantification of peptidyl-prolyl cis-trans isomerase-like 2 in a sample." "PMID:29875488" @@ -36598,7 +36599,7 @@ "The hemodynamic and electrophysiological action of the left HEART VENTRICLE. Its measurement is an important aspect of the clinical evaluation of patients with heart disease to determine the effects of the disease on cardiac performance." "SNOMEDCT:250907009 MeSH:D016277" "FMA:77614" - "An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh." "UMLS:C0206657 GARD:0005654 EFO:0007143 GARD:5654 MEDGEN:61652 NCIT:C3750 NORD:760 HP:0012218 UMLS:C0279544 DOID:4239 ONCOTREE:ASPS NANDO:2200063 ICDO:9581/3 MedDRA:10001882 MESH:D018234 Orphanet:163699 ICD10:C49.9 OMIM:606243 MONDO:0011655 SCTID:404056007 ICD9:171.9 NCIT:C7943" + "An alveolar soft part sarcoma occurring in adults. The most common site of involvement is the extremity, particularly the deep soft tissues of the thigh." "UMLS:C0206657 GARD:0005654 EFO:0007143 GARD:5654 MEDGEN:61652 NCIT:C3750 NORD:760 HP:0012218 UMLS:C0279544 DOID:4239 ONCOTREE:ASPS NANDO:2200063 ICDO:9581/3 MedDRA:10001882 MESH:D018234 Orphanet:163699 ICD10:C49.9 OMIM:606243 SCTID:404056007 MONDO:0011655 ICD9:171.9 NCIT:C7943" "Quantification of the amount of theophylline in a sample." "PMID:24816252" "Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit." "SCTID:719202006 MESH:C564796 Orphanet:163665 icd11.foundation:758715188 MEDGEN:338603 DOID:0112292 OMIM:271620 UMLS:C1849053 GARD:16995" @@ -37545,7 +37546,7 @@ "A triglyceride in which the three acyl groups contain a total of 50 carbons and 5 double bonds." "COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder." "SCTID:732264002 UMLS:C4517377 OMIM:615643 MEDGEN:1387791 GARD:12571 Orphanet:397725 DOID:0110740" - "Region of cortex near to the rhinal sulcus. It is defined differently in different nomenclatures, due in part to the lack of agreement on the definition of the border of this region. In the rat, the perirhinal cortex occupies only caudal levels of the rhinal sulcus while in the monkey, it occurpies the full rostrocaudal extent of the rhinal sulcus (Burwell et al., Hippocampus, 5: 390-408, 1995)." "neuronames:2425 MESH:D000071039 NLXANAT:1005006 EFO:0001978 BAMS:PERI PBA:128012080 BTO:0004355 Wikipedia:Perirhinal_cortex BM:Tel-Cx-PRh MBA:922 BAMS:PRh MA:0000912 EMAPA:35682" + "Region of cortex near to the rhinal sulcus. It is defined differently in different nomenclatures, due in part to the lack of agreement on the definition of the border of this region. In the rat, the perirhinal cortex occupies only caudal levels of the rhinal sulcus while in the monkey, it occurpies the full rostrocaudal extent of the rhinal sulcus (Burwell et al., Hippocampus, 5: 390-408, 1995)." "neuronames:2425 MESH:D000071039 NLXANAT:1005006 EFO:0001978 BAMS:PERI BTO:0004355 PBA:128012080 Wikipedia:Perirhinal_cortex BM:Tel-Cx-PRh MBA:922 BAMS:PRh MA:0000912 EMAPA:35682" "OMIM:618821 UMLS:C5394173 MEDGEN:1720321" "Any process involved in the maintenance of an internal steady state of magnesium ions within an organism or cell." "GO:0010960" "Members of the class of nitrophenol carrying two nitro substituents." "CAS:25550-58-7" @@ -37918,7 +37919,7 @@ "UMLS:C3275446 MEDGEN:477077 GARD:18445 OMIM:300854" - "A disease involving the cardial valve." "MESH:D006349 NCIT:C45525 NCIt:C45525 NANDO:2100105 UMLS:C0018824 MONDO:0002869 SCTID:368009 MedDRA:10061406 MEDGEN:5463 ICD10:I08 ICD9:424.99 DOID:4079 MeSH:D006349" + "A disease involving the cardial valve." "MESH:D006349 NCIT:C45525 NCIt:C45525 NANDO:2100105 UMLS:C0018824 MONDO:0002869 SCTID:368009 MedDRA:10061406 MEDGEN:5463 ICD9:424.99 ICD10:I08 DOID:4079 MeSH:D006349" "Absence of the crystalline lens of the eye as a result of a developmental defect." "UMLS:C1853230" "Quantification of leucine-rich repeat-containing protein 74A in a sample." "PMID:29875488" "The amount of a asparagine--tRNA ligase, cytoplasmic when measured in blood." "PMID:37794183" @@ -38234,7 +38235,7 @@ "Quantification of uridine diphosphate glucose levels in a sample." "PMID:23823483" "The amount of a glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 when measured in blood serum." - "Inflammation of the pancreas." "UMLS:C0030305 NCIT:C3306 SNOMEDCT:75694006 MONDO:0004982 MeSH:D010195 DOID:4989 MEDGEN:14586 NCIt:C3306 MedDRA:10033645 SCTID:75694006 MESH:D010195" + "Inflammation of the pancreas." "UMLS:C0030305 NCIT:C3306 SNOMEDCT:75694006 MONDO:0004982 MeSH:D010195 DOID:4989 NCIt:C3306 MEDGEN:14586 MedDRA:10033645 SCTID:75694006 MESH:D010195" "A disease involving the pituitary gland." "MONDO:0003381 ICD9:253.8 ICD9:253.1 ICD9:253.9 MESH:D010900 NCIT:C26854 MEDGEN:45934 UMLS:C0032002 DOID:53 SCTID:399244003 ICD10:E23" "The amount of a carbohydrate sulfotransferase 10 when measured in blood serum." @@ -38426,7 +38427,7 @@ "Electrocardiography measurement of the duration from the end of the T wave to the start of the P wave." "PMID:32602732" "An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications." "NCIT:C128805 MEDGEN:1631685 UMLS:C4551985 OMIM:208000" "Quantification of versican core protein in a sample." "PMID:29875488" - "The anterior part of the frontal lobes of the brain, lying in front of the motor and premotor areas.nnThis brain region has been implicated in planning complex cognitive behaviors, personality expression, decision making and moderating correct social behavior. The basic activity of this brain region is considered to be orchestration of thoughts and actions in accordance with internal goals.nnThe most typical psychological term for functions carried out by the pre-frontal cortex area is executive function. Executive function relates to abilities to differentiate among conflicting thoughts, determine good and bad, better and best, same and different, future consequences of current activities, working toward a defined goal, prediction of outcomes, expectation based on actions, and social 'control' (the ability to suppress urges that, if not suppressed, could lead to socially-unacceptable outcomes).nnMany authors have indicated an integral link between a person's personality and the functions of the prefrontal cortex. - definition adapted from Wikipedia." "GAID:676 MESH:D017397 FMA:224850 BTO:0002807 BAMS:FrA EMAPA:35356 MA:0000906 Wikipedia:Prefrontal_cortex neuronames:1072 DHBA:10172 EFO:0001384 NLXANAT:090801" + "The anterior part of the frontal lobes of the brain, lying in front of the motor and premotor areas.nnThis brain region has been implicated in planning complex cognitive behaviors, personality expression, decision making and moderating correct social behavior. The basic activity of this brain region is considered to be orchestration of thoughts and actions in accordance with internal goals.nnThe most typical psychological term for functions carried out by the pre-frontal cortex area is executive function. Executive function relates to abilities to differentiate among conflicting thoughts, determine good and bad, better and best, same and different, future consequences of current activities, working toward a defined goal, prediction of outcomes, expectation based on actions, and social 'control' (the ability to suppress urges that, if not suppressed, could lead to socially-unacceptable outcomes).nnMany authors have indicated an integral link between a person's personality and the functions of the prefrontal cortex. - definition adapted from Wikipedia." "GAID:676 FMA:224850 MESH:D017397 BTO:0002807 BAMS:FrA EMAPA:35356 MA:0000906 Wikipedia:Prefrontal_cortex neuronames:1072 DHBA:10172 EFO:0001384 NLXANAT:090801" "The amount of a cytohesin-4 when measured in blood serum." "SNOMEDCT:419489007 MeSH:D019617" "Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture." "UMLS:C0029438 MedDRA:10071283 ICD10:M89.5 OMIM:123880" @@ -38645,7 +38646,7 @@ "A phagocytic syncytial cell formed by the fusion of macrophages, occurs in chronic inflammatory responses to persistent microorganism such as M.tuberculosis, component of granulomas. Sometimes used to refer to megakaryocytes." "FMA:83035 MESH:D015726 BTO:0003107" "Quantification of melleolide M in blood plasma." "HMDB:0035068" - "The inorganic chloride salt of caesium; each caesium ion is coordinated by eight chlorine ions." "Wikipedia:Cesium_chloride \"Wikipedia\" PMID:698485 MeSH:C028019 CiteXplore:11058836 \"PubMed citation\" ChemIDplus:7647-17-8 \"CAS Registry Number\" Reaxys:3534981 \"Reaxys Registry Number\" Reaxys:3534981 CiteXplore:698485 \"PubMed citation\" CAS:7647-17-8 Wikipedia:Cesium_chloride PMID:11058836 NIST Chemistry WebBook:7647-17-8 \"CAS Registry Number\"" + "The inorganic chloride salt of caesium; each caesium ion is coordinated by eight chlorine ions." "Wikipedia:Cesium_chloride \"Wikipedia\" MeSH:C028019 PMID:698485 CiteXplore:11058836 \"PubMed citation\" ChemIDplus:7647-17-8 \"CAS Registry Number\" Reaxys:3534981 \"Reaxys Registry Number\" Reaxys:3534981 CiteXplore:698485 \"PubMed citation\" CAS:7647-17-8 Wikipedia:Cesium_chloride PMID:11058836 NIST Chemistry WebBook:7647-17-8 \"CAS Registry Number\"" "A 1,2-di-octadecadienoyl-sn-glycero-3-phosphocholine in which the double bonds in each fatty acyl group are at positions 9 and 12 and have Z configuration." "CAS:998-06-1 PMID:25083573 PMID:25308534 LIPID_MAPS_instance:LMGP01010937 HMDB:HMDB0008138 PMID:14561471 PMID:25063276 Reaxys:5212188 PMID:20336709 PMID:24121081 PDBeChem:DLP" "A surgical procedure in which one or both kidneys from a donor are implanted into a recipient." "A yellowish thickened lesion on the conjunctiva near the cornea representing a benign degenerative change in the conjunctiva caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the limbus." "ICD10:H11.15 MedDRA:10035060 SNOMEDCT:87614000 MONDO:0001179 ICD9:372.51 DOID:11029 SCTID:87614000 MeSH:D059407 MESH:D059407 UMLS:C0152255 MEDGEN:56273" @@ -39902,7 +39903,7 @@ "Circumscribed collections of suppurative material occurring in the spinal or intracranial epidural space. The majority of epidural abscesses occur in the spinal canal and are associated with osteomyelitis of a vertebral body; analgesia, epidural; and other conditions. Clinical manifestations include local and radicular pain, weakness, sensory loss, urinary incontinence, and fecal incontinence. Cranial epidural abscesses are usually associated with osteomyelitis of a cranial bone, sinusitis, or otitis media. (From Adams et al., Principles of Neurology, 6th ed, p710 and pp1240-1; J Neurol Neurosurg Psychiatry 1998 Aug;65(2):209-12)" "EFO:0007260 SCTID:61974008 MEDGEN:82848 MESH:D020802 DOID:11387 UMLS:C0270629 MONDO:0005752" "A viral infectious disease that results in increased proliferation of affected CD4 lymphocytes, has material basis in Human T-lymphotropic virus 1, which is transmitted by sexual contact, transmitted by contaminated needles used by intravenous-drug users, and transmitted by breast feeding. The person infected with HTLV-1 eventually develop an often rapidly fatal leukemia, while others will develop a debilitative myelopathy, uveitis, infectious dermatitis, or another inflammatory disorder." "MESH:D015490 MONDO:0005801 UMLS:C0020097 DOID:323 MeSH:D015490 MEDGEN:6919" - "A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure." "ICD9:357.3 NCIt:C3981 MESH:D020364 DOID:8681 MEDGEN:124380 MedDRA:10062289 MeSH:D020364 UMLS:C0270932 NCIT:C3981 SCTID:77659000 MONDO:0006888" + "A diffuse or multifocal peripheral neuropathy caused by the effects of a distant neoplasm. It may be attributed, in part, to the immune response to neoplasm-elaborated proteins. The neuropathy may be sensory, motor, mixed or autonomic. It may be the initial presentation of an occult neoplasm. Detection and resection of the neoplasm may result in cure." "NCIt:C3981 MESH:D020364 DOID:8681 MEDGEN:124380 MedDRA:10062289 MeSH:D020364 UMLS:C0270932 NCIT:C3981 SCTID:77659000 MONDO:0006888 ICD9:357.3" "The external membrane of Gram-negative bacteria or certain organelles such as mitochondria and chloroplasts; freely permeable to most ions and metabolites." "An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" "MedDRA:10001610 ICD9:291.0 DOID:8639 SNOMEDCT:8635005 SCTID:8635005 MESH:D000430 MeSH:D000430 MONDO:0006642 UMLS:C0001957 MEDGEN:1398" "The scalar number of injections administered to a material or organism." @@ -40196,7 +40197,7 @@ "Quantification of the amount of X-21959 in a sample." "PMID:35347128" "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature." "NANDO:1200107 icd11.foundation:1479415032 NCIT:C84902 OMIM:253010 NANDO:2201179 Orphanet:309310 MEDGEN:43376 UMLS:C0086652 DOID:0111392 GARD:3786 SCTID:238044004" "Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes." "MESH:C537036 UMLS:C1838328 MEDGEN:325001 GARD:296 Orphanet:2832 SCTID:721075001 OMIM:600269" - "The female muscular organ of gestation in which the developing embryo or fetus is nourished until birth." "EMAPA:29915 galen:Uterus FMA:17558 Wikipedia:Uterus EFO:0000975 MAT:0000127 MIAA:0000127 NCIT:C12405 BTO:0001424 EV:0100113 UMLS:C0042149 MA:0000389 VHOG:0001137 MESH:D014599 SCTID:181452004 GAID:172 CALOHA:TS-1102" + "The female muscular organ of gestation in which the developing embryo or fetus is nourished until birth." "EMAPA:29915 galen:Uterus FMA:17558 Wikipedia:Uterus EFO:0000975 MAT:0000127 MIAA:0000127 NCIT:C12405 EV:0100113 BTO:0001424 UMLS:C0042149 MA:0000389 VHOG:0001137 MESH:D014599 SCTID:181452004 GAID:172 CALOHA:TS-1102" "A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells." "UMLS:C1708778 EFO:0006740 ONCOTREE:LUMEC MONDO:0005616 DOID:0050932 MEDGEN:310949 NCIT:C45544" "A serious disorder characterized by massive adrenal gland hemorrhage secondary to a bacterial infection, most often Neisseria meningitidis infection. It is manifested with decreased blood pressure, shock, disseminated intravascular coagulation, and adrenocortical insufficiency." "ICD10CM:A39.1 ICD10EXP:E35.1* GARD:9449 MeSH:D014884 UMLS:C1403891 SCTID:36102002 Orphanet:100067 MedDRA:10047847 MONDO:0006015 DOID:9931 MESH:D014884 ICD9:036.3 icd11.foundation:2072098125 NCIT:C85225 MEDGEN:234675 MedDRA:10047846 ICD10EXP:A39.1+" @@ -41192,7 +41193,7 @@ "The amount of a endonuclease 8-like 2 when measured in blood serum." "UMLS:C2750784 OMIM:613206 ICD10:G11.4" "CEPH/UTAH PEDIGREE 1349 INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19" - "A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma." "NCIT:C3959 MedDRA:10062000 UMLS:C0267792 MEDGEN:82758 DOID:3118 MONDO:0002515" + "A non-neoplastic or neoplastic disorder that affects the liver, bile ducts, and gallbladder. Representative examples of non-neoplastic disorders include hepatitis, cirrhosis, cholangitis, and cholecystitis. Representative examples of neoplastic disorders include hepatocellular adenoma, hepatocellular carcinoma, and cholangiocarcinoma." "MONDO:0002515 NCIT:C3959 MedDRA:10062000 UMLS:C0267792 MEDGEN:82758 DOID:3118" "A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin." "ONCOTREE:SSRCC UMLS:C1335965 MEDGEN:234782 DOID:8025 MONDO:0006409 NCIT:C5250 EFO:1000524" "Quantification of bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 1 in a sample." "PMID:29875488" "CLO:0003630 RRID:CVCL_1245" @@ -42123,7 +42124,7 @@ "Primary localized amyloidosis is a form of AL amyloidosis caused by the aggregation of insoluble amyloid fibrils derived from misfolded monoclonal immunoglobulin light chains usually produced by a plasma cell tumor and characterized by localized amyloid deposition with clinical manifestations restricted to the organ involved, most frequently urinary tract (bladder), eye, respiratory tract (larynx, lungs), and skin." "GARD:21387 MEDGEN:1842348 Orphanet:314709 UMLS:C5679901" "The amount of a putative protein-lysine deacylase ABHD14B when measured in blood." "PMID:37794183" - "The nasal septum separates the left and right airways in the nose, dividing the two nostrils. It is depressed by the Depressor septi nasi muscle. [WP,unvetted]." "EMAPA:17608 FMA:54375 EHDAA2:0004104 UMLS:C0027432 VHOG:0000017 SCTID:181197004 AAO:0010135 NCIT:C33160 EHDAA2:0001234 Wikipedia:Nasal_septum EHDAA:6809 MESH:D009300 AAO:0000559 GAID:115 MA:0000285" + "The nasal septum separates the left and right airways in the nose, dividing the two nostrils. It is depressed by the Depressor septi nasi muscle. [WP,unvetted]." "EMAPA:17608 EHDAA2:0004104 UMLS:C0027432 VHOG:0000017 SCTID:181197004 AAO:0010135 NCIT:C33160 EHDAA2:0001234 Wikipedia:Nasal_septum EHDAA:6809 MESH:D009300 AAO:0000559 GAID:115 MA:0000285 FMA:54375" "Strain family." "TGEMO:00041 MGI:3609372" "Single-nucleus droplet-based sequencing (snDrop-seq)" "PMID:29227469" "The amount of a Phosphatidylcholine (18:1_18:3) when measured in blood serum." @@ -44444,7 +44445,7 @@ "Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones." "UMLS:C0432201 MeSH:C536573 ICD10:Q87.1 OMIM:112310" "The amount of a lysyl oxidase homolog 3 when measured in blood serum." - "The inflammation of a vertebra." "UMLS:C0038012 MESH:D013166 ICD9:720.89 DOID:6590 ICD9:720.8 SCTID:84172003 NCIT:C116779 MEDGEN:11560" + "The inflammation of a vertebra." "MESH:D013166 UMLS:C0038012 ICD9:720.89 DOID:6590 ICD9:720.8 SCTID:84172003 NCIT:C116779 MEDGEN:11560" "An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." "MeSH:D052476" "Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease." "MedDRA:10071755 OMIM:186580 OMIM:609464" @@ -44585,7 +44586,7 @@ "Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay." "NCIT:C75469 OMIM:182290 MEDGEN:162881 DECIPHER:8 ICD9:758.33 GARD:8197 NANDO:2200954 NANDO:1200687 DOID:0060768 icd11.foundation:989025532 MESH:D058496 UMLS:C0795864 NORD:1725 SCTID:401315004 Orphanet:819" "Diamond–Blackfan anemia (DBA), is a congenital erythroid aplasia that usually presents in infancy and results in low red blood cell counts (anemia)." "MeSH:D029503 OMIM:105650" "The amount of a SH3 domain-containing kinase-binding protein 1 when measured in blood serum." - "Major subdivision of an organism that protrudes from the body[DOS, CARO]." "EFO:0000799 BTO:0001492 VSAO:0000075 FBbt:00007000 EHDAA2:0003193 EMAPA:37283 UMLS:C0598782 NCIT:C61460 MESH:D005121 XAO:0000218 Wikipedia:Appendage EV:0100155 MIAA:0000023 HAO:0000144 AEO:0000193 BILA:0000018 MAT:0000023 CARO:0010003" + "Major subdivision of an organism that protrudes from the body[DOS, CARO]." "EFO:0000799 BTO:0001492 VSAO:0000075 FBbt:00007000 EHDAA2:0003193 EMAPA:37283 UMLS:C0598782 NCIT:C61460 MESH:D005121 XAO:0000218 Wikipedia:Appendage EV:0100155 HAO:0000144 AEO:0000193 MIAA:0000023 BILA:0000018 MAT:0000023 CARO:0010003" "A monocarboxylic acid that is propanoic acid in which one of the hydrogens at position 3 has been replaced by a 4-hydroxy-3-methoxyphenyl group." "PMID:27102241 FooDB:FDB029987 PMID:26899568 PMID:11693915 PMID:23904092 PMID:25644343 PMID:26471074 PMID:19157126 PMID:21676405 PMID:24947504 AGR:IND601125916 PMID:24949277 PMID:27689343 Reaxys:2110370 PMID:23982107 PMID:25809126 KNApSAcK:C00040946 PMID:17469871 PMID:25261518 PMID:11368919 CAS:1135-23-5" "A chronic inflammatory process that affects the tissues that surround and support the teeth." "MedDRA:10009102 MONDO:0005593 ICD9:523.40 SCTID:5689008 ICD9:523.4 OMIM:260950 ICD10CM:K05.3 NCIt:C35326 OMIM:170650 icd11.foundation:1242548497 MeSH:D055113 MESH:D055113 SNOMEDCT:5689008 NCIT:C35326" @@ -46402,7 +46403,7 @@ - "Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993)." "TAO:0000204 galen:Esophagus MIAA:0000048 AAO:0000145 MESH:D004947 ANISEED:1235301 Wikipedia:Esophagus EHDAA2:0001285 EV:0100069 EFO:0000835 MA:0000352 FMA:7131 ZFA:0000204 BTO:0000959 CALOHA:TS-0700 GAID:291 UMLS:C0014876 VHOG:0000450 NCIT:C12389 EMAPA:16833 EHDAA:2937 SCTID:181245004 XAO:0000127 MAT:0000048" + "Tube that connects the pharynx to the stomach. In mammals, the oesophagus connects the buccal cavity with the stomach. The stratified squamous non-keratinised epithelium lining the buccal cavity is continued through the pharynx down into the oesophagus. The lowest part of the oesophagus (ca. 2 cm) is lined with gastric mucosa and covered by peritoneum. The main body of the oesophagus is lined with small, simple mucous glands. Each gland opens into the lumen by a long duct which pierces the muscularis mucosae (Wilson and Washington, 1989). A sphincter is situated at the point where the oesophagus enters the stomach to prevent gastro-oesophageal reflux, i.e. to prevent acidic gastric contents from reaching stratified epithelia of the oesophagus, where they can cause inflammation and irritation (Wilson and Washington, 1989; Brown et al., 1993)." "galen:Esophagus TAO:0000204 MIAA:0000048 AAO:0000145 MESH:D004947 ANISEED:1235301 Wikipedia:Esophagus EHDAA2:0001285 EV:0100069 EFO:0000835 MA:0000352 FMA:7131 ZFA:0000204 BTO:0000959 CALOHA:TS-0700 GAID:291 UMLS:C0014876 VHOG:0000450 NCIT:C12389 EMAPA:16833 EHDAA:2937 SCTID:181245004 XAO:0000127 MAT:0000048" "The amount of a keratin-associated protein 2-4 when measured in blood serum." @@ -46421,7 +46422,7 @@ "quantification of the amount of WNT1-inducible-signaling pathway protein 1 in a sample" "Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis." "OMIM:615491 UMLS:C3809665 DOID:0112344 GARD:17523 Orphanet:352654 MEDGEN:815995" - "A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles)." "EHDAA:5978 EHDAA:5035 EHDAA:5043 TAO:0005277 EV:0100377 VHOG:0000319 EFO:0000888 MESH:D018482 GAID:141 AAO:0011099 MIAA:0000302 EMAPA:35988 CALOHA:TS-0933 XAO:0000174 BTO:0001103 ZFA:0005277 MA:0003148 EHDAA:5984 MAT:0000302" + "A muscle organ that consists of skeletal muscle tissue ensheathed in epimysium, that develops from myotome and that is innervated by some somatic motor neuron. Skeletal muscles are typically attached (via a tendon) to a bone but there are exceptions (e.g. intrinsic tongue muscles)." "EHDAA:5035 EHDAA:5043 TAO:0005277 EV:0100377 VHOG:0000319 EFO:0000888 MESH:D018482 GAID:141 AAO:0011099 MIAA:0000302 EMAPA:35988 CALOHA:TS-0933 XAO:0000174 BTO:0001103 ZFA:0005277 MA:0003148 EHDAA:5984 MAT:0000302 EHDAA:5978" "A tocopherol that is chroman-6-ol substituted by methyl groups at positions 2, 5, 7 and 8 and a 4,8,12-trimethyltridecyl group at position 2." "KEGG:D02332 SNOMEDCT:259666007 PMID:24683365 PMID:23949732 Beilstein:8176170 MeSH:D024502 Wikipedia:Alpha-Tocopherol NCIt:C74960 CAS:10191-41-0" "The amount of a calsyntenin-2 when measured in blood serum." "A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected." "NCIT:C40021 MEDGEN:276669 UMLS:C1518720 DOID:2150" @@ -46936,7 +46937,7 @@ "A partial dislocation of a joint." "Quantification of NAD kinase in a sample." "PMID:29875488" "A medium-chain fatty acid anion that is the conjugate base of heptanoic acid; shown in myocardial ischaemia/reperfusion studies to increase levels of C4 Kreb's cycle intermediates." "Reaxys:3903940 MetaCyc:CPD-7619 Beilstein:3903940 Gmelin:327115 CAS:7563-37-3 PMID:16141384" - "A disease involving the prostate gland. [ MONDO:DesignPattern ]" "ICD9:602.8 MEDGEN:10964 ICD9:602.9 ICD10:N42 UMLS:C0033575 DOID:47 MESH:D011469 NCIT:C26865 SCTID:30281009 MONDO:0003105" + "A disease involving the prostate gland. [ MONDO:DesignPattern ]" "ICD9:602.8 MEDGEN:10964 ICD9:602.9 ICD10:N42 UMLS:C0033575 MESH:D011469 DOID:47 NCIT:C26865 SCTID:30281009 MONDO:0003105" "The amount of a beta-defensin 103 when measured in blood serum." "An acute infectious process that affects the brain tissue. It is usually caused by viruses and less often by bacteria, parasites, and fungi." "UMLS:C0596773 ICD9:323.4 MESH:D000069544 SCTID:312215006 ICD9:049.8 MEDGEN:108917 NCIT:C79550" @@ -47467,7 +47468,7 @@ "human stomach carcinoma cell line from a 48 year old male" - "Inflammation of the oral mucosa due to local or systemic factors. [database_cross_reference: NCIt:P378]" "MESH:D013280 ICD10:K12 DOID:9637 ICD9:528.00 MEDGEN:52511 ICD9:528.0 UMLS:C0038362 NCIT:C26887 MedDRA:10042128 SCTID:61170000 MONDO:0004842" + "Inflammation of the oral mucosa due to local or systemic factors. [database_cross_reference: NCIt:P378]" "MESH:D013280 ICD10:K12 DOID:9637 ICD9:528.00 MEDGEN:52511 ICD9:528.0 NCIT:C26887 UMLS:C0038362 MedDRA:10042128 SCTID:61170000 MONDO:0004842" "The amount of a protein LZIC when measured in blood serum." "ICD10:Q99.8" @@ -47642,7 +47643,7 @@ "The amount of a centriolar satellite-associated tubulin polyglutamylase complex regulator 1 when measured in blood serum." "46,XX ovotesticular disorder of sex development (46,XX ovotesticular DSD) is characterized by histologically confirmed testicular and ovarian tissue in an individual with a 46,XX karyotype." "MeSH:D050090 OMIM:617480 UMLS:C2748895 ICD10:Q56.0 OMIM:400045" - "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic" "ICD9:276.2 MedDRA:10000486 MONDO:0006022 MeSH:D000138 UMLS:C0001122 SNOMEDCT:51387008 NCIt:C83504 HP:0001941 SCTID:51387008 MEDGEN:1296" + "An abnormally high acidity of the blood and other body tissues. Acidosis can be either respiratory or metabolic" "ICD9:276.2 MedDRA:10000486 MONDO:0006022 MeSH:D000138 UMLS:C0001122 SNOMEDCT:51387008 HP:0001941 NCIt:C83504 SCTID:51387008 MEDGEN:1296" "The amount of a attractin when measured in blood." "PMID:37794183" "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of treatment with salmeterol, a beta-adrenergic agonist used in the treatment of respiratory diseases" "OMIM:617527 OMIM:251280 ICD10:Q02" @@ -47940,7 +47941,7 @@ "Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region." "UMLS:C4280642 UMLS:C4082243 UMLS:C4280641 UMLS:C0240310 UMLS:C4280643 UMLS:C4280640" "Quantification of the amount of 1-palmityl-2-arachidonoyl-GPC (O-16:0/20:4) in a sample." "PMID:35347128" "Mouse embryonic stem cell" "RRID:CVCL_7264" - "A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." "ICDO:9053/3 NCIT:C4282 DOID:4486 UMLS:C0334515 MEDGEN:137775 EFO:1000124 MONDO:0006109" + "A malignant neoplasm arising from mesothelial cells in the pleura. It is characterized by the presence of neoplastic epithelioid cells and sarcomatoid features." "ICDO:9053/3 NCIT:C4282 DOID:4486 MEDGEN:137775 UMLS:C0334515 EFO:1000124 MONDO:0006109" "The amount of a dual specificity protein phosphatase 10 when measured in blood." "PMID:37794183" "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene." "MEDGEN:343643 MESH:C565058 OMIM:130600 GARD:15064 UMLS:C1851741" @@ -48416,7 +48417,7 @@ "A DiHOME obtained by formal dihydroxylation of the 12,13-double bond of octadeca-9,12-dienoic acid (the 9Z-geoisomer)." "HMDB:HMDB0004705 Reaxys:1973358 LIPID_MAPS_instance:LMFA02000230 KEGG:C14829" "The amount of a LIM and SH3 domain protein 1 when measured in blood serum." "FBbt:00005625" - "A fold of skin that covers and protects part of the eyeball. Examples: upper eyelid, lower eyelid, nictitating membrane." "VHOG:0000016 EHDAA2:0000487 Wikipedia:Eyelid EMAPA:17829 BTO:0002241 GAID:72 NCIT:C12713 MESH:D005143 FMA:54437 MA:0000268 EHDAA:9037 UMLS:C0015426 SCTID:265782007 EV:0100338" + "A fold of skin that covers and protects part of the eyeball. Examples: upper eyelid, lower eyelid, nictitating membrane." "VHOG:0000016 EHDAA2:0000487 Wikipedia:Eyelid EMAPA:17829 BTO:0002241 GAID:72 NCIT:C12713 MESH:D005143 FMA:54437 MA:0000268 EHDAA:9037 UMLS:C0015426 EV:0100338 SCTID:265782007" "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present." "OMIM:615537 GARD:17079 UMLS:C0406811 SCTID:239133004 Orphanet:178307 DOID:0060258 MESH:C562924 MEDGEN:98363 ICD9:709.09" "OBSOLETE. A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia." "Orphanet:238505 NANDO:2200735" @@ -48644,7 +48645,7 @@ "A disease involving the peripheral nervous system." "NCIT:C27580 DOID:574 ICD10:G64 MONDO:0003620 SCTID:42658009 MEDGEN:892389 UMLS:C4025831 ICD9:356.9 ICD9:350-359.99 MESH:D010523" "Human B-lymphoblastoid cell line" "RRID:CVCL_E489" "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the GOSR2 gene." "DOID:0111449 MEDGEN:1681379 UMLS:C5190805 OMIM:614018 icd11.foundation:878291417 Orphanet:280620 GARD:3872" - "A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." "NCIT:C40155 MONDO:0006197 EFO:1000239 DOID:7139 MEDGEN:309057 UMLS:C1516858 icd11.foundation:845680139" + "A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." "NCIT:C40155 MONDO:0006197 EFO:1000239 DOID:7139 MEDGEN:309057 icd11.foundation:845680139 UMLS:C1516858" "A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THROMBOSIS and FIBROSIS in the vascular wall leading to digital and limb ISCHEMIA and ulcerations. Thromboangiitis obliterans is highly associated with tobacco smoking." "MESH:D013919 MeSH:D013919 NCIT:C35070 NORD:880 ICD10:I73.1 NANDO:1200266 NCIt:C35070 icd11.foundation:1000683110 OMIM:211480 DOID:12918 GARD:5969 MedDRA:10043540 Orphanet:36258 ICD9:443.1 UMLS:C0040021 MONDO:0008889 SCTID:52403007 SNOMEDCT:52403007 MEDGEN:21531" "Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression." "MedDRA:10079207 OMIM:168605" "Human megakaryoblastic cell line" "CLO:0009490" @@ -49205,7 +49206,7 @@ "OBSOLETE. An instance of hair anomaly that is caused by a modification of the individual's genome." "Orphanet:183450" "Quantification of the ratio of L-Serine to 3-Indolepropionic acid ratio in a sample." "PMID:33634981" "A form of lysosomal acid lipase deficiency characterized by progressive cholesterol esters and triglyceride accumulation in tissues and organs typically presenting with hepatosplenomegaly, liver dysfunction and/or dyslipidemia." "OMIM:278000 UMLS:C0008384 Orphanet:75234 NORD:929 SCTID:57218003 NANDO:2201233 icd11.foundation:894336362 NANDO:1200144 MEDGEN:40266 GARD:12099 DOID:14502" - "Inflammation of the renal pelvis." "MEDGEN:48268 MedDRA:10037586 NCIT:C34964 MONDO:0006938 SCTID:27174002 UMLS:C0034183 MESH:D011702 DOID:2744 MeSH:D011702 NCIt:C34964 MedDRA:10037584 SNOMEDCT:27174002" + "Inflammation of the renal pelvis." "MEDGEN:48268 MedDRA:10037586 NCIT:C34964 MONDO:0006938 SCTID:27174002 UMLS:C0034183 MESH:D011702 DOID:2744 NCIt:C34964 MeSH:D011702 MedDRA:10037584 SNOMEDCT:27174002" "ICD10:N04.0" "Quantification of the amount of 3-methyl-2-oxobutyrate in a sample." "PMID:24816252" "The amount of a C-type lectin domain family 4 member D when measured in blood serum." @@ -49464,7 +49465,7 @@ "CAS:41205-06-5 KEGG:C14308 MeSH:D008726 NCIt:C50378 Beilstein:1913191 VSDB:1457 PPDB:1457 KEGG:D08200 CAS:40596-69-8" "A disease that has its basis in the disruption of intestinal motility." "MEDGEN:586448 UMLS:C0400865" - "A holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.[MP]." "EV:0100161 NCIT:C33519 Wikipedia:Sebaceous_gland BTO:0001980 CALOHA:TS-2384 VHOG:0001468 UMLS:C0036505 MESH:D012627 MA:0002565 GAID:900 FMA:59160 SCTID:361697005 EMAPA:35754" + "A holocrine gland that secretes sebum into the hair follicles, or in hairless areas into ducts.[MP]." "EV:0100161 NCIT:C33519 Wikipedia:Sebaceous_gland BTO:0001980 CALOHA:TS-2384 VHOG:0001468 UMLS:C0036505 MESH:D012627 MA:0002565 GAID:900 FMA:59160 EMAPA:35754 SCTID:361697005" "The rostral extensions of the ventricular system of the brain consisting of two cavities, one on each side of the brain within the central regions of each cerebral hemisphere. Cerebrospinal fluid flows from the lateral ventricles into the centrally third ventricle via the foramen of Monroe." "MeSH:D020547 NIFSTD:birnlex_1263 BTO:0000879 NCIt:C12834" "A neuroepithelial cells that occurs singly or in small groups, close to the outer follicular borders but within the follicular basement membrane of the thyroid. Expresses a form of the neural cell adhesion molecule (N-CAM) on their surface. Secretes calcitonin, 5-hydroxytryptamine and dopamine." "SCTID:176770005 ZFA:0009260 FMA:68653" @@ -51029,7 +51030,7 @@ "quantification of the amount of tumor necrosis factor-inducible gene 6 protein in a sample" "Hi-C is a method for analysing 3-dimensional organisation and interaction of chromatin, belonging to the class of techniques collectively called \"Chromosome Conformation Capture\", in which chromatin is crosslinked, then digested, and re-ligated in such a way that only DNA fragments that are covalently linked together form ligation products. Together with 5C, Hi-C does not limit to the study to a specific locus in the genome, and can be used to study chromatin interaction across the genome. To achieve high-throughput, a biotin-labeled nucleotide is incorporated at the ligation junction, enabling selective purification of chimeric DNA ligation junctions followed by deep sequencing. Mapping the sequenced reads back to genome will reveal the origin of the fragments involved in the ligation events." "Quantification of the amount of tumor necrosis factor receptor superfamily member 10B measurement in a sample." "PMID:36168886" - "Organ system subdivision that consists of the organs and ducts that are involved in the production and transportation of bile. In most species this is the gallbladder and the bile ducts (biliary tree)." "Wikipedia:Biliary_system SCTID:361354009 GAID:279 NCIT:C12678 FMA:79646 MESH:D001659 MA:0001273" + "Organ system subdivision that consists of the organs and ducts that are involved in the production and transportation of bile. In most species this is the gallbladder and the bile ducts (biliary tree)." "Wikipedia:Biliary_system SCTID:361354009 GAID:279 FMA:79646 NCIT:C12678 MESH:D001659 MA:0001273" "Quantification of the amount of guaiacol sulfate in a sample." "PMID:35347128" "Human induced stem cell line derived from dermal fibroblasts. Cells have a karyotype of: Normal, 46XX. Cells are pluripotency tested on 3 germ layers in EB and teratomas. The cells were reprogrammed using a retrovirus containing 3 factors: KLF4, SOX2, OCT4.[PMID: 21293464]. Cells were provided by Harvard University and maintained on KSR medium." "The amount of a transforming acidic coiled-coil-containing protein 3 when measured in blood serum." @@ -51235,7 +51236,7 @@ "Quantification of the ratio of 3-Indolepropionic acid to gamma-Linolenic acid (C18:3n6) ratio in a sample." "PMID:33634981" - "Orphanet:178493 SNOMEDCT:312898002 MedDRA:10082754 MONDO:0015807 MEDGEN:676480 UMLS:C0730271 ICD10CM:H35.3 ORDO:178493 GARD:20153 SCTID:312898002" + "SNOMEDCT:312898002 Orphanet:178493 MedDRA:10082754 MONDO:0015807 MEDGEN:676480 UMLS:C0730271 ICD10CM:H35.3 ORDO:178493 GARD:20153 SCTID:312898002" "Collection of a breast milk specimen from an organism." "quantification of the amount of transmembrane glycoprotein NMB in a sample" "The amount of a cell cycle and apoptosis regulator protein 2 when measured in blood." "PMID:37794183" @@ -51609,7 +51610,7 @@ "A quinolone that is quinolin-4(1H)-one bearing cyclopropyl, carboxylic acid, fluoro and piperazin-1-yl substituents at positions 1, 3, 6 and 7, respectively." "VSDB:1763 MeSH:D002939 CAS:85721-33-1 Beilstein:3568352 PMID:10397494 PDBeChem:CPF PMID:10737746 DrugBank:DB00537 SNOMEDCT:7577004 LINCS:LSM-5226 Drug_Central:659 SNOMEDCT:372840008 HMDB:HMDB0014677 KEGG:C05349 Wikipedia:Ciprofloxacin Reaxys:3568352 NCIt:C375 Patent:DE3142854 KEGG:D00186 Patent:US4670444" "A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)" "DOID:14221 OMIM:605552 MeSH:D024821 MedDRA:10052066 ICD9:277.7 SNOMEDCT:237602007 NCIt:C84442 OMIM:615812" "Mature interstitial dendritic cell is a interstitial dendritic cell that is CD80-high, CD86-high, MHCII-high and is CD83-positive." - "Vein that is central to a lobule in the liver." "ZFA:0005168 SCTID:272023004 NCIT:C32281 FMA:17544 Wikipedia:Central_veins_of_liver TAO:0005168" + "Vein that is central to a lobule in the liver." "ZFA:0005168 NCIT:C32281 FMA:17544 SCTID:272023004 Wikipedia:Central_veins_of_liver TAO:0005168" "short or long term physiological response of an organism, eg in terms of deposits of dust particles in lung tissues, to exposure to biological dust, usually of occupational or environment origin" "binge eating with or without purging" "icd11.foundation:1673294767 SCTID:439960005 MONDO:0005582 NCIt:C97162 MedDRA:10004716 MEDGEN:154543 MESH:D002032 NCIT:C97162 UMLS:C0596170" "A cell involved in the formation of a granulocyte." "FMA:83519" @@ -52245,7 +52246,7 @@ "quantification of some aspect of reproductive behaviour such as age at first birth or number of children" "PMID:27798627" "The amount of a muscular LMNA-interacting protein when measured in blood serum." "A cervical thymus that is located deep in the ventral cervical region, superficial to hyoid, sternomastoid, and depressor neck muscles." - "Lower, narrow portion of the uterus where it joins with the top end of the vagina." "BTO:0002249 MESH:D002584 SCTID:181453009 MAT:0000292 galen:CervixUteri EFO:0000979 BTO:0001421 FMA:17740 EMAPA:29927 Wikipedia:Cervix EV:0100114 VHOG:0001359 GAID:376 CALOHA:TS-0134 MA:0000392 UMLS:C0007874 NCIT:C12311" + "Lower, narrow portion of the uterus where it joins with the top end of the vagina." "BTO:0002249 MESH:D002584 SCTID:181453009 MAT:0000292 galen:CervixUteri EFO:0000979 BTO:0001421 FMA:17740 EMAPA:29927 Wikipedia:Cervix EV:0100114 VHOG:0001359 GAID:376 CALOHA:TS-0134 MA:0000392 NCIT:C12311 UMLS:C0007874" "ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare cause of Cushing syndrome (CS; see this term) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS (see this term)." "Orphanet:189427 MEDGEN:923388 DOID:0111622 GARD:10824 SCTID:720459002 UMLS:C2062388 NANDO:2200353 MESH:C565662 MONDO:0009049" "Massively parallel reporter assay (MPRA)" "PMID:26576614" "MESH:D010211 SCTID:6141006 ICD9:362.83 MEDGEN:69183 DOID:6929 UMLS:C0242420" @@ -52434,7 +52435,7 @@ "Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy." "OMIM:212835 MESH:C535350 Orphanet:1174 GARD:1189 UMLS:C1859306 MEDGEN:347850 SCTID:715371006" "A colorectal adenoma which develops independently more than six months after the removal of a previous colorectal adenoma." - "SCTID:19034001 ICD9:588.81 MEDGEN:543606 ICD10CM:N25.81 DOID:12465 icd11.foundation:610229783 UMLS:C0271847" + "UMLS:C0271847 SCTID:19034001 ICD9:588.81 MEDGEN:543606 ICD10CM:N25.81 DOID:12465 icd11.foundation:610229783" "mouse embryo stage at age 14.5 days" "A quantification of some aspect of the enlargement of the ventricles of the brain." "PMID:31711042" "SNOMEDCT:5249008 MeSH:D012549" @@ -52479,7 +52480,7 @@ "A xenobiotic (Greek, xenos \"foreign\"; bios \"life\") is a compound that is foreign to a living organism. Principal xenobiotics include: drugs, carcinogens and various compounds that have been introduced into the environment by artificial means." "KEGG:C06708 MeSH:D015262 Wikipedia:Xenobiotic" "Accumulation of intraretinal fluid and protein in the macula, which may result in swelling and decreased central vision." "UMLS:C0271051 MEDGEN:75732 NCIT:C35468 DOID:4449 SCTID:37231002" - "A disease that involves the nerve plexus." "NCIT:C27744 UMLS:C0270891 DOID:3688 ICD10:G54 UMLS:C1335437 MONDO:0024432 SCTID:2231001 MEDGEN:543047 NCIt:C27744" + "A disease that involves the nerve plexus." "NCIT:C27744 DOID:3688 UMLS:C0270891 ICD10:G54 UMLS:C1335437 MONDO:0024432 SCTID:2231001 MEDGEN:543047 NCIt:C27744" "A method that uses DNA-tagged antibodies to quantify proteins in single cells." "A disease that involving errors in metabolic processes." "MESH:D008659 NCIt:C3235 MONDO:0005066 DOID:0014667 MEDGEN:44376 SNOMEDCT:75934005 ICD9:277.9 ICD10WHO:E70-E90 SCTID:75934005 ICD10CM:E70-E88 NANDO:1100002 NCIT:C3235 MeSH:D008659 UMLS:C0025517 ICD9:277.8" "UMLS:C4748120 MEDGEN:1648308 OMIM:618087" @@ -53257,7 +53258,7 @@ "A common myeloid progenitor that is CD34-positive, CD38-positive, IL3ra-low, CD10-negative, CD7-negative, CD45RA-negative, and IL-5Ralpha-negative." "The amount of a photoreceptor cilium actin regulator when measured in blood." "PMID:37794183" "A neoplasm with neuroendocrine differentiation that arises from the pancreas. It includes neuroendocrine tumors (low and intermediate grade) and neuroendocrine carcinomas (high grade)." "NCIT:C27031 MEDGEN:1848937 MONDO:0005815 Orphanet:506052 icd11.foundation:1421495979 DOID:1799 SCTID:254611009 MeSH:D007516 UMLS:C5848399 ICDO:8150/1 GARD:22052" - "A disease involving the biliary tree." "ICD10:K83 UMLS:C0549613 MESH:D001660 MeSH:D001660 SCTID:105997008 ICD9:576.9 MedDRA:10004676 MEDGEN:108201 ICD10:K83.9 DOID:9741 MONDO:0004868" + "A disease involving the biliary tree." "ICD10:K83 UMLS:C0549613 MESH:D001660 MeSH:D001660 SCTID:105997008 MedDRA:10004676 ICD9:576.9 MEDGEN:108201 ICD10:K83.9 DOID:9741 MONDO:0004868" "A rare adenocarcinoma with poor prognosis, arising from the adenohypophysial cells of the anterior lobe of the pituitary gland or pre-existing adenomas. The majority are hormonally functioning neoplasms, usually producing prolactin or ACTH. The diagnosis is based on the presence of metastases. Syndromes associated with pituitary gland carcinomas include hyperprolactinemia, Cushing disease, and acromegaly." "SCTID:254955001 GARD:9371 MEDGEN:91096 UMLS:C0346300 HP:0011763 NCIT:C4536 DOID:4916 ONCOTREE:PTCA ICDO:8272/3 Orphanet:300385" "Quantification of alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B in a sample." "PMID:29875488" @@ -55128,7 +55129,7 @@ "Malignant Burkitt lymphoma cell line BL 60" "BTO:0001934 RRID:CVCL_7034" "human acute myeloid leukemia cell line established from erythroleukemia blasts (AML M6) of a 62-year-old patient following a 7-year chlorambucil treatment for chronic lymphocytic leukemia (DSMZ catalog number ACC 529)" "MEDGEN:1802965 OMIM:619840 UMLS:C5676968" - "The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord." "AAO:0011017 EFO:0003647 Wikipedia:Chordamesoderm TAO:0001204 XAO:0000205 ZFA:0001204 VHOG:0000107" + "The axial mesoderm includes the prechordal mesoderm and the chordamesoderm. It gives rise to the prechordal plate and to the notochord." "VHOG:0000107 AAO:0011017 EFO:0003647 Wikipedia:Chordamesoderm TAO:0001204 XAO:0000205 ZFA:0001204" "Portion of tissue, that consists of one or more layers of epithelial cells connected to each other by cell junctions and which is underlain by a basal lamina. Examples: simple squamous epithelium, glandular cuboidal epithelium, transitional epithelium, myoepithelium[CARO]." "BTO:0000416 FMA:9639 CARO:0000066 MESH:D004848 Wikipedia:Epithelium UMLS:C0014609 FBbt:00007005 SCTID:31610004 EHDAA2:0003066 ZFA:0001486 MA:0003060 CALOHA:TS-0288 VHOG:0000387 XAO:0003045 HAO:0000066 AAO:0010055 AEO:0000066 NCIT:C12710 GAID:402 AAO:0000144 TAO:0001486 BILA:0000066 EMAPA:32738" "A clonal neoplasm of small B-lymphocytes, lymphoplasmacytoid cells, and plasma cells involving the bone marrow, lymph nodes, and the spleen. The majority of patients have a serum IgM paraprotein." "UMLS:C0334633 ONCOTREE:LPL icd11.foundation:2058944823 SCTID:190817009 DOID:0050747 NCIT:C3212 ICD9:273.3 ICDO:9761/3 MEDGEN:473052 ICDO:9671/3" "The determination of the amount of Citraconic acid in a blood sample" "PubChem:643798 KEGG COMPOUND:C02214" @@ -55404,7 +55405,7 @@ "The amount of a spindlin-1 when measured in blood serum." "An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time." "MedDRA:10015280 SCTID:254215005 MEDGEN:609461 Orphanet:79355 ICD9:757.39 UMLS:C0432330 GARD:18986" "Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus)." "UMLS:C1866730" - "The inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine." "MAT:0000495 MESH:D019439 XAO:0000166 UMLS:C0001629 VHOG:0001378 EMAPA:18428 CALOHA:TS-0018 FMA:15633 AAO:0011010 NCIT:C12397 SCTID:362585001 MA:0000119 Wikipedia:Adrenal_medulla EFO:0000852 GAID:451 BTO:0000049 EV:0100137" + "The inner portion of the adrenal gland that consists mainly of chromaffin cells which produce, store and secrete neurotransmitters such as epinephrine and norepinephrine." "MAT:0000495 MESH:D019439 XAO:0000166 UMLS:C0001629 VHOG:0001378 EMAPA:18428 CALOHA:TS-0018 FMA:15633 NCIT:C12397 AAO:0011010 SCTID:362585001 MA:0000119 Wikipedia:Adrenal_medulla EFO:0000852 GAID:451 BTO:0000049 EV:0100137" "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility." "icd11.foundation:1122707206 OMIMPS:130000 NORD:1080 MEDGEN:41720 NCIT:C34568 DOID:13359 ICD10CM:Q79.6 SCTID:398114001 Orphanet:98249 NANDO:1200645 NANDO:2200607 GARD:6322 MESH:D004535 ICD9:756.83 MedDRA:10014316 UMLS:C0013720" "A disorder affecting the small intestine. It is caused by the stasis of food and subsequent overgrowth of bacteria in a portion of the small intestine that is unintentionally bypassed as a complication of abdominal surgery or as a sequela of gastrointestinal disorders which impede effective motility. Clinical signs include bloating, abdominal pain, diarrhea and weight loss. If untreated, the clinical course progresses to malabsorption of fats, vitamin B12 and calcium, the latter which predisposes to nephrolithiasis and osteoporosis." "MedDRA:10005166 NCIT:C34431 SCTID:66379009 DOID:10606 ICD9:579.2 MONDO:0005673 icd11.foundation:1719064637 MESH:D001765 MEDGEN:600 MeSH:D001765 UMLS:C0005750" "The subdivision of the vertebrate body between the thorax and pelvis. The ventral part of the abdomen contains the abdominal cavity and visceral organs. The dorsal part includes the abdominal section of the vertebral column." "BTO:0000020 SCTID:302553009 EV:0100011 MAT:0000298 EMAPA:35102 CALOHA:TS-0001 Wikipedia:Abdomen galen:Abdomen MIAA:0000298 EFO:0000968 MESH:D000005 FMA:9577 MA:0000029 GAID:16" @@ -55825,7 +55826,7 @@ "A melanoma affecting the retinal portion of the eye. --2003" "NCIT:C8601 MEDGEN:163431 UMLS:C0853394 SCTID:423673009 DOID:8427" "Orphanet:3062" "The amount of a cysteine-rich secretory protein LCCL domain-containing 2 when measured in blood serum." - "A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." "MEDGEN:313374 EFO:1000340 UMLS:C1708792 NCIT:C45519 MONDO:0006283 ONCOTREE:LECLC" + "A morphologic variant of large cell lung carcinoma characterized by the presence of a syncytial growth pattern, large vesicular nuclei with esophnophilic nucleoi, and dense lymphoplasmacytic infiltration." "EFO:1000340 MEDGEN:313374 UMLS:C1708792 NCIT:C45519 MONDO:0006283 ONCOTREE:LECLC" "The amount of a GPN-loop GTPase 1 when measured in blood serum." "A cyclic pentapyrrole where the five pyrrole units are joined at their 2- and 5-positions via four methine linkages and one direct 2-5'-linkage." "Reaxys:7662683 Beilstein:7662683 PMID:22070570" @@ -56341,7 +56342,7 @@ "Inflammation of the urethra secondary to infection with Neisseria gonorrhoeae; this infection is spread through sexual contact." "MEDGEN:42278 UMLS:C0018078 icd11.foundation:684710834 SCTID:236682002 NCIT:C26787" "Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene." "OMIM:614433 DOID:0110113 MEDGEN:482420 UMLS:C3280790" - "A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course." "ICDO:8551/3 MEDGEN:224757 DOID:7729 NCIT:C5727 UMLS:C1266087" + "A cystic adenocarcinoma characterized by the presence of relatively uniform neoplastic cells which produce pancreatic enzymes and are arranged in acinar patterns. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It usually has an aggressive clinical course." "ICDO:8551/3 MEDGEN:224757 DOID:7729 UMLS:C1266087 NCIT:C5727" "The mucosal layer that lines the stomach." "EMAPA:35817 GAID:321 Wikipedia:Gastric_mucosa FMA:14907 UMLS:C0017136 BTO:0001308 NCIT:C32656 SCTID:362131005 MA:0002683 galen:GastricMucosa MESH:D005753 CALOHA:TS-0404" "The amount of a matrix-remodeling-associated protein 7 when measured in blood serum." @@ -56401,7 +56402,7 @@ "OMIM:202650 ICD10:Q87.8" "The amount of a collagen alpha-1(V) chain when measured in blood." "PMID:37794183" "HuH-7 is a well differentiated hepatocyte derived cellular carcinoma cell line that was originally taken from a liver tumor in a 57-year-old Japanese male in 1982. The line was established by Nakabayshi, H. and Sato, J. HuH-7 is an immortal cell line of epithelial-like tumorigenic cells. It usually grow in 2D monolayers." "BTO:0001950 CLO:0009989 RRID:CVCL_0336" - "A subdivision of the digestive tract that connects the small intestine to the cloaca or anus. Lacks or has few villi[Kardong]." "EFO:0000840 EV:0100077 BTO:0000706 galen:LargeIntestine NCIT:C12379 EMAPA:19252 VHOG:0000054 SCTID:181254001 AAO:0010396 GAID:306 FMA:7201 MA:0000333 XAO:0000131 CALOHA:TS-1306 UMLS:C0021851 Wikipedia:Large_intestine_(anatomy) MESH:D007420 MIAA:0000046" + "A subdivision of the digestive tract that connects the small intestine to the cloaca or anus. Lacks or has few villi[Kardong]." "EFO:0000840 EV:0100077 BTO:0000706 galen:LargeIntestine NCIT:C12379 EMAPA:19252 VHOG:0000054 SCTID:181254001 AAO:0010396 GAID:306 FMA:7201 MA:0000333 XAO:0000131 CALOHA:TS-1306 Wikipedia:Large_intestine_(anatomy) UMLS:C0021851 MESH:D007420 MIAA:0000046" "Quantification of the amount of erythronate in a sample." "PMID:24816252" @@ -57737,7 +57738,7 @@ "Quantification of cholesterol esters contained in or bound to HDL." "A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)" "MedDRA:10059354 MeSH:D018221" "The amount of a Phosphatidylcholine (O-18:1_18:2) when measured in blood serum." - "Posterior part of the cerebral hemisphere (MSH)." "BAMS:OL CALOHA:TS-0693 BAMS:Occipital_lobe HBA:4180 DHBA:12148 MESH:D009778 FMA:67325 MAT:0000507 SCTID:180923002 UMLS:C0028785 Wikipedia:Occipital_lobe BTO:0000293 neuronames:140 NCIT:C12355 EV:0100170 GAID:678 BIRNLEX:1136 EFO:0000915" + "Posterior part of the cerebral hemisphere (MSH)." "BAMS:OL CALOHA:TS-0693 BAMS:Occipital_lobe HBA:4180 DHBA:12148 MESH:D009778 FMA:67325 MAT:0000507 SCTID:180923002 UMLS:C0028785 BTO:0000293 Wikipedia:Occipital_lobe neuronames:140 NCIT:C12355 EV:0100170 GAID:678 BIRNLEX:1136 EFO:0000915" "Inflammation of a synovial membrane." "MESH:D013585 MeSH:D013585 NCIT:C50766 MONDO:0002400 NCIt:C50766 UMLS:C0039103 DOID:2703 HP:0100769 MEDGEN:21051 MedDRA:10042868 SCTID:416209007" @@ -58131,7 +58132,7 @@ "The postaxial bone of the proximal tarsals series[Phenoscape]." "EMAPA:19134 NCIT:C32250 galen:Calcaneum MESH:D002111 MA:0001348 BTO:0002355 SCTID:182099002 FMA:24496 VSAO:0005016 UMLS:C0006655 Wikipedia:Calcaneus" "The amount of a UPF0235 protein C15orf40 when measured in blood serum." "The fused compact cephalic plates that comprise the head, excluding the eyes, antennae and mouthparts." "FBbt:00004482" - "A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements." "GARD:20492 MEDGEN:308948 ICD10CM:C53.0 Orphanet:213792 DOID:4111 UMLS:C1516426 NCIT:C40229 SCTID:764847000" + "A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements." "MEDGEN:308948 GARD:20492 ICD10CM:C53.0 Orphanet:213792 DOID:4111 UMLS:C1516426 NCIT:C40229 SCTID:764847000" "The amount of a ADP-ribose glycohydrolase MACROD2 when measured in blood serum." "A group of autosomal recessive lysosomal storage disorders marked by the accumulation of gangliosides. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the lysosomes. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway." "GARD:12510 MEDGEN:42149 SCTID:50967008 icd11.foundation:797306953 UMLS:C0017083 DOID:2368 Orphanet:309144" "A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n." "MEDGEN:120590 Orphanet:2604 SCTID:63684002 ICD9:359.89 icd11.foundation:1838806574 UMLS:C0266833 GARD:3443" @@ -58797,7 +58798,7 @@ "Quantification of SPRY domain-containing SOCS box protein 1 in a sample." "PMID:29875488" "An organic disulfide that results from the formal oxidative dimerisation of N,N-diethyldithiocarbamic acid. A multi-enzyme inhibitor that is used in alcohol aversion therapy and also exhibits anticancer properties." "PMID:16661923 PMID:17667894 PMID:25777347 PMID:31151194 PMID:25565438 PMID:15325261 PMID:17079463 PMID:15709459 PMID:32963852 PMID:19782464 Drug_Central:928 PMID:26033731 PMID:26517513 PMID:10841824 PMID:33731397 PMID:11716515 KEGG:D00131 DrugBank:DB00822 PMID:26239994 PMID:8442800 LINCS:LSM-5467 PMID:32971817 PMID:24496638 PMID:26235918 PMID:19787200 PMID:26314552 Pesticides:disulfiram PMID:19720750 PMID:34012274 PMID:26550292 PMID:8572926 PMID:26224731 MetaCyc:DISULFIRAM PMID:25657800 Reaxys:1712560 PMID:25495604 PMID:14978246 PMID:25464072 CAS:97-77-8 PMID:16880974 PMID:25133664 PMID:25476326 KEGG:C01692 Wikipedia:Disulfiram PMID:25557293 PMID:11005259 PMID:16666414 PMID:18579431 PMID:34045896 HMDB:HMDB0014960 PMID:25445071 PMID:21471244 PMID:17579916 PMID:16426571" - "Anatomical structure that is part of an embryo." "XAO:0003042 CALOHA:TS-2110 SCTID:667009 NCIT:C13229 BILA:0000034 RETIRED_EHDAA2:0003169 BTO:0000174 UMLS:C0013948 MESH:D004628 TAO:0001105 FBbt:00004208 AAO:0000138 EFO:0000461 GAID:407 FMA:69067 ZFA:0001105 VSAO:0000178" + "Anatomical structure that is part of an embryo." "XAO:0003042 CALOHA:TS-2110 SCTID:667009 NCIT:C13229 BILA:0000034 RETIRED_EHDAA2:0003169 BTO:0000174 UMLS:C0013948 MESH:D004628 TAO:0001105 FBbt:00004208 AAO:0000138 EFO:0000461 GAID:407 FMA:69067 VSAO:0000178 ZFA:0001105" "The most posterior of the three principal regions of the brain. In mammals and birds the hindbrain is divided into a rostral metencephalon and a caudal myelencephalon. In zebrafish, with the exception of the cerebellum, the ventral remainder of the metencephalon can be separated only arbitrarily from the more caudal myelencephalic portion of the medulla oblongata and thus these are not distinguished here. From Neuroanatomy of the Zebrafish Brain." "MFO:0002340 MA:0000195 MAT:0000107 TAO:0000029 XAO:0000015 ZFA:0000029 EHDAA:3514 BTO:0000672 EMAPA:16916 NIFSTD:birnlex_942 SAEL:50 FMA:67687" "Quantification of transmembrane protease serine 11A in a sample." "PMID:29875488" @@ -59342,7 +59343,7 @@ "The amount of a riboflavin kinase when measured in blood serum." "A benign or malignant mesenchymal neoplasm arising from the perivascular cells of the connective and soft tissues. It is characterized by the presence of pericytes that grow in a circumferential pattern around vessels." "DOID:3316 MEDGEN:235473 NCIT:C6528 UMLS:C1335392" - "Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis." "MESH:D016472 MEDGEN:102314 UMLS:C0154681 ICD9:335.9 SCTID:85672005 ICD9:335 DOID:4873" + "Anterior horn disease is one of a number of medical disorders affecting the anterior horn of the spinal cord. Anterior horn diseases include spinal muscular atrophy, poliomyelitis and amyotrophic lateral sclerosis." "MESH:D016472 MEDGEN:102314 UMLS:C0154681 SCTID:85672005 ICD9:335.9 ICD9:335 DOID:4873" "The amount of a actin nucleation-promoting factor WAS when measured in blood." "PMID:37794183" "SNOMEDCT:84872000" @@ -59575,7 +59576,7 @@ "A fairly common and often benign valvular heart disorder characterized by redundancy or hooding of mitral valve leaflets so that they prolapse into the left atrium, often causing mitral regurgitation. It is often a symptomless condition but may be marked by varied symptoms (e.g. chest pain, fatigue, dizziness, dyspnea, or palpitations) leading in some cases to endocarditis or ventricular tachycardia." "UMLS:C0026267 icd11.foundation:1085590500 SCTID:8074002 SCTID:409712001 NCIT:C50655 MEDGEN:7671 HP:0001634 DOID:988 MESH:D008945" "Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive." "ICD10:D81.2 OMIM:300400 UMLS:C2931540" "An acyclic desferrioxamine that is butanedioic acid in which one of the carboxy groups undergoes formal condensation with the primary amino group of N-(5-aminopentyl)-N-hydroxyacetamide and the second carboxy group undergoes formal condensation with the hydroxyamino group of N(1)-(5-aminopentyl)-N(1)-hydroxy-N(4)-[5-(hydroxyamino)pentyl]butanediamide. It is a siderophore native to Streptomyces pilosus biosynthesised by the DesABCD enzyme cluster as a high affinity Fe(III) chelator." "LIPID_MAPS_instance:LMFA08020169 KEGG:C06940 PMID:32039778 HMDB:HMDB0014884 PMID:28285915 PMID:31846315 PMID:18536609 PMID:31035197 KEGG:D03670 PMID:29182270 CAS:70-51-9 PMID:32734456 PMID:28455567 PMID:28156129 DrugBank:DB00746 Beilstein:2514118 PMID:11239825 Chemspider:2867 LINCS:LSM-6541 PMID:31229836 PMID:32572744 PMID:30701380 Drug_Central:792 Wikipedia:Deferoxamine PMID:33784308 Patent:BE609053 PMID:28318697 PMID:32856363" - "The parotid gland is the largest of the salivary glands. It is found wrapped around the mandibular ramus, and it secretes saliva through Stensen's duct into the oral cavity, to facilitate mastication and swallowing. [WP,unvetted]." "UMLS:C0030580 FMA:59790 NCIT:C12427 EFO:0002558 EV:0100060 galen:ParotidGland EMAPA:18537 BTO:0001004 CALOHA:TS-0748 MA:0001585 MESH:D010306 GAID:938 SCTID:181234002 Wikipedia:Parotid_gland AAO:0010095 VHOG:0000308" + "The parotid gland is the largest of the salivary glands. It is found wrapped around the mandibular ramus, and it secretes saliva through Stensen's duct into the oral cavity, to facilitate mastication and swallowing. [WP,unvetted]." "FMA:59790 UMLS:C0030580 NCIT:C12427 EFO:0002558 EV:0100060 galen:ParotidGland EMAPA:18537 BTO:0001004 CALOHA:TS-0748 MA:0001585 MESH:D010306 GAID:938 SCTID:181234002 Wikipedia:Parotid_gland AAO:0010095 VHOG:0000308" "A benign protruding lesion arising either from the endometrial cavity (endometrial polyp) or the endocervix (endocervical polyp). It may occasionally recur following complete resection. [ NCIT ]" "NCIT:C3662 MedDRA:10046811 DOID:9042 SCTID:11314008 ICD9:621.0 UMLS:C0156369 MONDO:0004701 MEDGEN:57628 ICD10CM:N84.0 NCIt:C3662" "The amount of a aldo-keto reductase family 1 member C4 when measured in blood serum." "A central nervous system disease that involves encephalitis which occurs along with meningitis." "UMLS:C0025309 MeSH:D008590 MedDRA:10027282 MESH:D008590 SCTID:7125002 DOID:10554 MEDGEN:6301 ICD10:G04 NCIT:C34813 MONDO:0005845" @@ -59778,7 +59779,7 @@ "ICD10:Q87.2" "The stage of a sporozoan cell that reproduces by schizogony, producing a varied number of daughter trophozoites or merozoites." "IDOMAL:0000306" - "An intromittent organ in certain biologically male organisms. In placental mammals, this also serves as the organ of urination." "EMAPA:18682 Wikipedia:Penis BTO:0000405 GAID:389 CALOHA:TS-0758 EV:0100107 EHDAA2:0001433 VHOG:0000727 UMLS:C0030851 MA:0000408 MESH:D010413 EMAPA_RETIRED:18996 EFO:0000987 MIAA:0000186 MAT:0000186 EHDAA:9380 NCIT:C12409 galen:Penis FMA:9707 SCTID:265793009" + "An intromittent organ in certain biologically male organisms. In placental mammals, this also serves as the organ of urination." "EMAPA:18682 Wikipedia:Penis BTO:0000405 GAID:389 CALOHA:TS-0758 EV:0100107 EHDAA2:0001433 VHOG:0000727 UMLS:C0030851 MA:0000408 MESH:D010413 EMAPA_RETIRED:18996 EFO:0000987 MIAA:0000186 MAT:0000186 EHDAA:9380 NCIT:C12409 galen:Penis SCTID:265793009 FMA:9707" "SNOMEDCT:36703000 NCIt:C87529" "Insecta (insects) are a class of invertebrates within the arthropod phylum that have a chitinous exoskeleton, a three-part body (head, thorax and abdomen), three pairs of jointed legs, compound eyes and one pair of antennae. They are among the most diverse groups of animals on the planet, including more than a million described species and representing more than half of all known living organisms." "Wikipedia:Insect" "A germ cell tumor of the central nervous system occurring in adults." "UMLS:C0280796 DOID:5349 NCIT:C6285 MEDGEN:128893" diff --git a/src/ontology/reports/class-count-by-prefix.tsv b/src/ontology/reports/class-count-by-prefix.tsv index 7010f0c7..6bb81dd7 100644 --- a/src/ontology/reports/class-count-by-prefix.tsv +++ b/src/ontology/reports/class-count-by-prefix.tsv @@ -18,7 +18,7 @@ "HANCESTRO" 37 "CL" 725 "NCBITaxon" 1497 -"CHEBI" 1774 +"CHEBI" 1775 "OBI" 72 "IDO" 1 "MONDO" 12199 diff --git a/src/ontology/reports/edges.tsv b/src/ontology/reports/edges.tsv index 977f4801..60f6c83c 100644 --- a/src/ontology/reports/edges.tsv +++ b/src/ontology/reports/edges.tsv @@ -1,12571 +1,12571 @@ ?x ?p ?y - _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid29390 - - _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid310699 - - _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid300666 - - - _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid299452 - _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid276417 - - _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid335924 - 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- _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid292301 @@ -19042,12 +19020,13 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - + + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid292291 @@ -19095,12 +19074,12 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + + - - - + @@ -19166,7 +19145,6 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid327368 @@ -19213,11 +19191,13 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid24818 + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid325411 - + @@ -19226,6 +19206,7 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid325475 @@ -19235,8 +19216,8 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - + @@ -19285,7 +19266,6 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid326052 @@ -19316,8 +19296,8 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - 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- + + @@ -54311,10 +54315,10 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid325503 - _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid292479 @@ -54492,6 +54496,7 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid274993 @@ -54504,6 +54509,7 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid326443 @@ -54580,8 +54586,8 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - + @@ -54629,8 +54635,8 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - + @@ -54721,8 +54727,6 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid294751 - _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid292341 @@ -54744,8 +54748,8 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - + @@ -54765,8 +54769,8 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - 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@@ -55863,9 +55869,10 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid325171 - + @@ -55921,6 +55928,7 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid292113 @@ -55981,8 +55989,8 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - + @@ -56021,8 +56029,8 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - + @@ -56045,7 +56053,6 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid326600 @@ -56154,6 +56161,7 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid326559 @@ -56254,9 +56262,9 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + - @@ -56324,12 +56332,12 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + + - - @@ -56372,6 +56380,7 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid326271 @@ -56427,6 +56436,7 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid301407 @@ -56484,6 +56494,7 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid276217 @@ -56634,7 +56645,6 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - 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_:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid295569 + - @@ -79632,9 +79633,9 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + - @@ -79827,6 +79828,7 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid325111 @@ -79936,6 +79938,7 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid294758 @@ -79963,10 +79966,10 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - - + + @@ -79991,6 +79994,7 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid326643 @@ -80056,7 +80060,6 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid15559 @@ -80163,7 +80166,6 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid25813 @@ -80188,7 +80190,6 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid326304 @@ -80241,6 +80242,7 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid326295 @@ -80253,6 +80255,7 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid292073 @@ -80263,7 +80266,6 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid327812 @@ -80335,6 +80337,7 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid292486 @@ -80355,9 +80358,9 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - - + + @@ -80419,7 +80422,6 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid327272 @@ -80520,7 +80522,6 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid327632 @@ -80571,8 +80572,8 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - + @@ -80665,7 +80666,6 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid327284 @@ -80701,8 +80701,8 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 - + @@ -80757,6 +80757,7 @@ _:Babee3972X2D9da3X2D4cf5X2D8b9aX2D5c1d1cd2e90egenid361424 + _:B944be3daX2Df1b9X2D4661X2Dad11X2Dd0199f5bd618genid326059 diff --git a/src/ontology/reports/synonyms.tsv b/src/ontology/reports/synonyms.tsv index 811307b2..04e37fad 100644 --- a/src/ontology/reports/synonyms.tsv +++ b/src/ontology/reports/synonyms.tsv @@ -50,8 +50,8 @@ "1,6-anhydroglucose measurement" "Episodic flaccid weakness" "obsolete_Potocki-Shaffer syndrome" - "Hyperuricemia" "brachycephaly, trichomegaly, and developmental delay" + "Hyperuricemia" "level of dynein light chain Tctex-type 3 in blood serum" "level of max-interacting protein 1 in blood serum" "nervous system disease" @@ -96,13 +96,13 @@ "Basal epidermolysis bullosa simplex" "non-acquired combined pituitary hormone deficiency" "nemaline myopathy 9" + "obsolete_spondyloepimetaphyseal dysplasia with joint laxity" + "Congenital disorder of glycosylation with developmental anomaly" "level of chitinase-3-like protein 1 in blood serum" "obsolete_pharynx" - "Congenital disorder of glycosylation with developmental anomaly" "Carcinus maenas" "splicing factor ESS-2 homolog" "communicating hydrocephalus" - "obsolete_spondyloepimetaphyseal dysplasia with joint laxity" "level of Ethyl 2-ethylhexanoate in blood" "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" "female reproductive organ" @@ -147,9 +147,9 @@ "interleukin-11 measurement" "amp kinase (alpha2beta2gamma1) measurement" "obsolete_Mowat-Wilson syndrome due to a ZEB2 point mutation" + "PH and SEC7 domain-containing protein 2 measurement" "congenital entropion" "fibromyalgia" - "PH and SEC7 domain-containing protein 2 measurement" "dyskeratosis congenita" "hypertension, pregnancy-induced" "serine/threonine-protein kinase tousled-like 1" @@ -175,8 +175,8 @@ "D-Fructose measurement" "NCI-H1334" "annexin A9 measurement" - "GM17828" "HEK-293HR1"@en + "GM17828" "mixed endometrial stromal and smooth muscle tumor" "focal facial dermal dysplasia type II" "level of E3 ubiquitin-protein ligase RAD18 in blood serum" @@ -191,22 +191,22 @@ "intermediate uveitis" "level of protein Mdm4 in blood serum" "chitinase-3-like protein 2" - "homeobox protein HMX2" "Metabolic disease with dementia" + "homeobox protein HMX2" "adult acute megakaryoblastic leukemia" "TE-1" "spondyloepimetaphyseal dysplasia, Strudwick type" "renal hypomagnesemia 3" "zinc finger protein 560" "pneumoviridae virus seropositivity" - "familial hypoaldosteronism" "obsolete_Familial dementia, Danish type" - "obsolete_behavioural disease" + "familial hypoaldosteronism" "eicosenoylcarnitine (C20:1) measurement" "diphyllobothriasis" + "obsolete_behavioural disease" "wine liking measurement" - "Parasteatoda tepidariorum" "atypical hemolytic-uremic syndrome with B factor anomaly" + "Parasteatoda tepidariorum" "prostatic adenoma" "level of endophilin-B2 in blood serum" "desmoid tumor caused by somatic mutation" @@ -264,9 +264,9 @@ "interleukin-33 (Rattus norvegicus)" "1-eicosatrienoylglycerophosphocholine measurement" "4-acetamidobutanoate" - "level of cadherin-22 in blood" "level of Phosphatidylcholine (16:0_16:1) in blood serum" "alkaline phosphatase, placental type" + "level of cadherin-22 in blood" "complement component 3 deficiency" "spatial transcriptomics" "Ectodermal dysplasia - cutaneous syndactyly syndrome" @@ -343,12 +343,12 @@ "nephronophthisis 1" "glycodeoxycholate" "obsolete_D-2-hydroxyglutaric aciduria" + "obsolete_digitotalar dysmorphism" "Recurrent fractures" "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations" "retroperitoneum carcinoma" - "obsolete_digitotalar dysmorphism" - "tRNA-specific adenosine deaminase 1" "Ras-related protein Rab-22A" + "tRNA-specific adenosine deaminase 1" "Long philtrum" "X-12193 measurement" "level of probable transmembrane reductase CYB561D1 in blood serum" @@ -412,9 +412,9 @@ "imidazole propionate measurement" "anus adenocarcinoma" "palmitoyl-arachidonoyl-glycerophosphocholine (2) measurement" + "multiple gestation" "obsolete_vagal ganglion 4" "obsolete_age of onset" - "multiple gestation" "protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1" "lactose intolerance adult type" "level of clusterin-associated protein 1 in blood serum" @@ -642,9 +642,9 @@ "uncharacterized protein CXorf38" "3-hydroxyisobutyryl-CoA hydrolase, mitochondrial" "Xeroderma pigmentosum complementation group B" - "optic papillitis" "arrhythmogenic right ventricular dysplasia, familial, 14" "level of autophagy-related protein 16-1 in blood" + "optic papillitis" "intercellular adhesion molecule 5 measurement" "nuclear cap-binding protein subunit 1" "level of CCN family member 1 in blood serum" @@ -696,10 +696,10 @@ "lithostathine-1-alpha" "rho-related GTP-binding protein Rho6 measurement" "obsolete_Fetal Gaucher disease" + "pulpitis" "phosphatidylcholine 34:3" "loess transformation" "loess transformation"@en - "pulpitis" "blood component" "forehead morphology measurement" "RN-46A" @@ -843,11 +843,11 @@ "free cholesterol in very large HDL measurement " "obsolete_Cyprus facial-neuromusculoskeletal syndrome" "hereditary vs non-hereditary etiology" - "HepG3" "obsolete_PHACE syndrome" - "NCI-H157" + "HepG3" "Foveal hypoplasia - presenile cataract" "Quartz-seq" + "NCI-H157" "suicide behaviour" "basic leucine zipper transcriptional factor ATF-like 3" "appendicular lean mass" @@ -899,8 +899,8 @@ "pericardial cell primordium" "nephrotic syndrome 16" "level of TGF-beta 2 in blood" - "excretion" "EoL-1" + "excretion" "spondylometaphyseal dysplasia, Kozlowski type" "Acidosis" "Night blindness - skeletal anomalies - dysmorphism" @@ -1022,8 +1022,8 @@ "importin subunit alpha-3" "Ras-related protein Rab-23" "uniconazole" - "HUES64-derived CD184+" "1-(1-enyl-oleoyl)-GPE (P-18:1) measurement" + "HUES64-derived CD184+" "level of smad1 in blood serum" "level of dysbindin domain-containing protein 1 in blood serum" "D-Glucopyranose measurement" @@ -1064,8 +1064,8 @@ "development or differentiation design" "Gynatresia" "VACTERL/vater association" - "x-linked warfarin sensitivity"@en "talin-2 measurement" + "x-linked warfarin sensitivity"@en "tRNA-specific adenosine deaminase 2" "obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy" "level of IgG receptor FcRn large subunit p51 in blood serum" @@ -1113,9 +1113,9 @@ "macrophage activation" "pro-neuregulin-1, membrane-bound isoform" "GM12872" + "obsolete_Kallmann syndrome" "MESSA" "respiratory quotient" - "obsolete_Kallmann syndrome" "interleukin (Homo sapiens)" "obsolete_congenital genu recurvatum" "GM17116" @@ -1153,9 +1153,9 @@ "metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria" "level of pyrroline-5-carboxylate reductase 2 in blood serum" "transcription cofactor HES-6" + "mesothelial neoplasm" "obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder" "importin subunit alpha-7" - "mesothelial neoplasm" "thyroid disease" "calbindin measurement" "retinitis pigmentosa 89" @@ -1185,8 +1185,8 @@ "calsyntenin-3" "PRO-seq" "Streptococcus pneumoniae" - "brachyolmia-amelogenesis imperfecta syndrome" "cholesterol homeostasis" + "brachyolmia-amelogenesis imperfecta syndrome" "(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity" "Syndactyly - telecanthus - anogenital and renal malformations" "level of methylthioribose-1-phosphate isomerase in blood" @@ -1271,27 +1271,27 @@ "level of Rho guanine nucleotide exchange factor 16 in blood serum" "trans-3-hydroxycotinine" "Ramos" - "Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome" "bone sarcoma" + "Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome" "Thumb stiffness - brachydactyly - intellectual disability" "spinocerebellar ataxia type 5" "level of homeobox protein goosecoid-2 in blood serum" "Chrysolophus pictus" "stachydrine measurement" - "prostate gland" "lymphocyte antigen 86 measurement" - "level of folate receptor alpha in blood serum" + "prostate gland" "mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations" + "level of folate receptor alpha in blood serum" "subarachnoid space" "Mietens syndrome" "Ma-Mel-11 cell" "obsolete_Non-syndromic congenital cataract" - "neuromyelitis optica" "MHC class II deficiency" "cardiac valvular defect" - "ILSXISS99/TejJ" + "neuromyelitis optica" "library preparation" "interferon alpha-5" + "ILSXISS99/TejJ" "obsolete_response to hydrochlorothiazide" "level of ubiquitin/ISG15-conjugating enzyme E2 L6 in blood" "tibial nerve" @@ -1338,8 +1338,8 @@ "uridine diphosphate measurement"@en "Streptococcus pyogenes MGAS6180" "zinc finger protein 264" - "oral leukoedema" "Abnormal liver function tests during pregnancy" + "oral leukoedema" "level of sodium/potassium-transporting ATPase subunit beta-1 in blood" "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase delta-1" @@ -1349,9 +1349,9 @@ "interferon gamma measurement" "nuclear cap-binding protein subunit 2" "level of cytohesin-1 in blood serum" - "obsolete_monosomy 22" "finger fracture" "Influenza A seropositivity" + "obsolete_monosomy 22" "hepatic leukemia factor" "protein HID1" "obsolete_Tay-Sachs disease, b variant, infantile form" @@ -1379,8 +1379,8 @@ "patched domain-containing protein 3" "potassium voltage-gated channel subfamily F member 1 measurement" "X-11374 measurement" - "cholesterol esters in large HDL measurement" "obsolete_non-distal trisomy 13q" + "cholesterol esters in large HDL measurement" "HT144" "level of beta-galactoside alpha-2,6-sialyltransferase 1 in blood serum" "DnaJ homolog subfamily C member 12" @@ -1398,8 +1398,8 @@ "fractional excretion of lactulose to mannitol ratio"@en "sphingomyelin 14:0 measurement"@en "SK-MEL-31" - "X-linked recessive inheritance" "level of partitioning defective 3 in blood" + "X-linked recessive inheritance" "level of Sterol ester (27:1/18:1) in blood serum" "Liver Inflammatory Myofibroblastic Tumor" "Glanzmann thrombasthenia" @@ -1498,8 +1498,8 @@ "suicide" "Wagner disease" "mediastinal malignant lymphoma" - "oculopharyngodistal myopathy 2" "CLN2 disease" + "oculopharyngodistal myopathy 2" "X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis" "ATP-dependent NAD(P)H-hydrate dehydratase activity" "pistillate inflorescence" @@ -1515,8 +1515,8 @@ "benign epithelial skin neoplasm" "protein unc-119 homolog B" "tolloid-like protein 1" - "obsolete_hereditary mixed polyposis syndrome" "peptidyl-prolyl cis-trans isomerase B measurement" + "obsolete_hereditary mixed polyposis syndrome" "familial dilated cardiomyopathy" "methionine measurement" "level of poly(rC)-binding protein 2 in blood" @@ -1562,16 +1562,16 @@ "reproductive system disease" "core-binding factor subunit beta measurement" "intestinal pseudo-obstruction" - "level of activin/inhibin beta B chain in blood" "solute carrier family 41 member 2" + "level of activin/inhibin beta B chain in blood" "level of interferon omega-1 in blood serum" "adult acute myeloid leukemia" "liver failure" "GM14503" "Metabolic acidosis" + "respiratory syncytial virus seropositivity" "S-sulfo-L-cysteine" "butyrophilin subfamily 3 member A3" - "respiratory syncytial virus seropositivity" "flavin adenine dinucleotide" "autosomal recessive axonal hereditary motor and sensory neuropathy"@en "multiple epiphyseal dysplasia" @@ -1598,8 +1598,8 @@ "Acromesomelic dysplasia, Maroteaux type" "obsolete_progressive muscular dystrophy" "osteoglophonic dwarfism" - "refractory malignant neoplasm" "level of CLIP-associating protein 1 in blood" + "refractory malignant neoplasm" "granular cell carcinoma" "level of protein canopy homolog 3 in blood serum" "adrenocortical insufficiency" @@ -1609,9 +1609,9 @@ "N-acetylarginine measurement"@en "puromycin" "glycogen storage disease due to GLUT2 deficiency" + "Flp-In-T-REx" "level of NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10 in blood serum" "sedation" - "Flp-In-T-REx" "level of ribose-phosphate pyrophosphokinase 2 in blood serum" "KCNH1 associated disorder" "cadherin-6 measurement" @@ -1622,8 +1622,8 @@ "Osteopathia striata - pigmentary dermopathy - white forelock" "obsolete_Krabbe disease" "peripheral neurotoxicity" - "X-17137 measurement" "obsolete_Hall-Riggs syndrome" + "X-17137 measurement" "alpha-N-acetylgalactosaminidase" "level of caveolin-2 in blood serum" "substance dependence" @@ -1661,9 +1661,9 @@ "level of Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3 in blood serum" "Gadus morhua" "endogenous retrovirus group V member 1 Env polyprotein" + "obsolete_spinocerebellar ataxia type 5" "microliter per liter" "obsolete_autosomal recessive Alport syndrome" - "obsolete_spinocerebellar ataxia type 5" "obsolete_response to bleomycin" "combined oxidative phosphorylation deficiency 45" "obsolete_choroideremia" @@ -1682,9 +1682,9 @@ "obsolete_20p13 microdeletion syndrome" "NOF151" "endocarditis" - "free cholesterol in very large VLDL measurement " "obsolete_hippocampus CA2" "Neurodegeneration" + "free cholesterol in very large VLDL measurement " "organic cation measurement"@en "HEY" "allergic rhinitis" @@ -1710,10 +1710,10 @@ "alanine--glyoxylate aminotransferase" "level of hydroxyacylglutathione hydrolase-like protein in blood serum" "level of inosine triphosphate pyrophosphatase in blood serum" + "Pelvic dysplasia - arthrogryposis of lower limbs" "presumptive dorsal mesoderm" "neoplasm of hypopharynx" "pancreaticobiliary malunion" - "Pelvic dysplasia - arthrogryposis of lower limbs" "organochlorine pesticide measurement" "SE.02 two nodes or internodes visible stage" "left ventricular hypertrophy" @@ -1792,8 +1792,8 @@ "pterin-4-alpha-carbinolamine dehydratase 2 measurement" "pepsinogen I/II ratio" "Adenomyosis" - "X-25790 measurement" "lysosome" + "X-25790 measurement" "level of protein FAM229A in blood serum" "Spondylocostal dysostosis - hypospadias - intellectual disability" "Hammer Toe Syndrome" @@ -1854,8 +1854,8 @@ "calcipressin-1 measurement" "tonsil neoplasm" "Autosomal dominant microcephaly" - "ichthyosis, lamellar, autosomal dominant" "mitochondrial glycine transporter" + "ichthyosis, lamellar, autosomal dominant" "Illumina NextSeq 550" "hypopigmentation, organomegaly, and delayed myelination and development" "grade III glioma" @@ -1877,10 +1877,10 @@ "segmental intercostal artery" "obsolete myeloid neoplasms associated with PDGFRB rearrangement" "clubfoot" + "obsolete_Noonan syndrome-like disorder with loose anagen hair" "middle lateral line neuromast" "level of pyrin domain-containing protein 1 in blood serum" "synaptosomal-associated protein 23" - "obsolete_Noonan syndrome-like disorder with loose anagen hair" "benign neoplasm of pharynx" "serum N-desmethylclozapine measurement" "ephrin type-a receptor 5 measurement" @@ -1971,9 +1971,9 @@ "level of DnaJ homolog subfamily B member 4 in blood serum" "N stage" "level of V-set and immunoglobulin domain-containing protein 4 in blood serum" + "level of submaxillary gland androgen-regulated protein 3A in blood serum" "transcription factor YY2" "oxytocin-neurophysin 1" - "level of submaxillary gland androgen-regulated protein 3A in blood serum" "multiple births measurement" "calnexin measurement" "glutathione S-transferase mu 1" @@ -2044,9 +2044,9 @@ "Primary Peritoneal Serous Adenocarcinoma" "obsolete_subthalamic nucleus" "apoplasm" - "Erythema palmaris hereditarium" "histone-lysine N-methyltransferase 2D" "palatine uvula" + "Erythema palmaris hereditarium" "acth-independent macronodular adrenal hyperplasia 2" "Joubert syndrome 37" "5-dodecenoate 12:1n7 measurement" @@ -2062,10 +2062,10 @@ "generalised epilepsy" "KP-2" "chromodomain Y-like protein 2" - "obsolete_septopreoptic holoprosencephaly" "Peripheral demyelination" "obsolete chronic acquired demyelinating polyneuropathy" "myoseptum" + "obsolete_septopreoptic holoprosencephaly" "obsolete_gastrocutaneous syndrome" "acute pyelonephritis" "Rectal Hyperplastic Polyp" @@ -2117,8 +2117,8 @@ "level of 1-(1Z-hexadecenyl)-2-linoleoyl-sn-glycero-3-phosphoethanolamine in blood" "potassium voltage-gated channel subfamily G member 4 measurement" "Schistosoma mansoni" - "HT55" "obsolete_syndromic ankyloblepharon" + "HT55" "vascular endothelial growth factor C measurement" "level of uroplakin-3a in blood" "SARS coronavirus" @@ -2127,18 +2127,18 @@ "level of prostaglandin F2 receptor negative regulator in blood serum" "non-acquired combined pituitary hormone deficiency with spine abnormalities" "obsolete_Xq27.3q28 duplication syndrome" - "ST segment duration"@en "septin-1" - "fructose measurement"@en + "ST segment duration"@en "sphingomyelin 16:0 measurement"@en "mushroom body primordium" + "fructose measurement"@en "abdominal cavity" "level of pre-B-cell leukemia transcription factor-interacting protein 1 in blood" "level of Sterol ester (27:1/18:0) in blood serum" "level of glutathione S-transferase mu 5 in blood serum" + "Lyme disease" "Delayed eruption of primary teeth" "level of IQ domain-containing protein F3 in blood serum" - "Lyme disease" "maturity-onset diabetes of the young type 10" "cytochrome P450" "methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency" @@ -2155,8 +2155,8 @@ "S1" "classic familial adenomatous polyposis" "proctocolitis" - "Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract" "level of glycogen synthase kinase-3 beta in blood serum" + "Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract" "Apis mellifera ligustica" "thymus gland disorder" "nectin-2" @@ -2186,8 +2186,8 @@ "obsolete_cystinuria" "RNA-seq of coding RNA" "calcium ion homeostasis" - "interleukin-1 beta measurement" "obsolete_harlequin syndrome" + "interleukin-1 beta measurement" "level of phosphatidylcholine" "level of histone-lysine N-methyltransferase 2C in blood serum" "glycogen [starch] synthase, muscle" @@ -2303,16 +2303,16 @@ "Sleep abnormality" "Lactobacillus plantarum WCFS1" "chronic liver failure" - "Hypoglycemia" "level of caveolin-3 in blood serum" + "Hypoglycemia" "protein FAM9B" "obsolete_split hand, bilateral" "IgG sialylation measurement" "complement C1r subcomponent measurement" "level of myosin-binding protein C, slow-type in blood serum" "level of ubiquinone biosynthesis protein COQ7 in blood serum" - "trait in response to silicon dioxide" "26S proteasome non-ATPase regulatory subunit 6" + "trait in response to silicon dioxide" "histone deacetylase 4" "ventricular septal defect 3" "Charcot-Marie-Tooth disease" @@ -2337,11 +2337,11 @@ "obsolete_AICA-ribosiduria" "level of C-type lectin domain family 11 member A in blood" "illuminance unit" - "TruDrop" "level of protein canopy homolog 4 in blood serum" "differential expression analysis data transformation"@en "differential expression analysis data transformation" "level of enoyl-CoA hydratase, mitochondrial in blood serum" + "TruDrop" "cardiac arrest" "Rauch-Steindl syndrome" "Disorder of phenylalanin or tyrosine metabolism" @@ -2454,9 +2454,9 @@ "level of asparagine--tRNA ligase, cytoplasmic in blood" "hemoglobin subunit beta" "leucine-rich repeat transmembrane neuronal protein 2 measurement" - "TP53 Positive Breast Carcinoma" "Epstein Barr virus nuclear antigen-1 seropositivity" "level of inositol-tetrakisphosphate 1-kinase in blood serum" + "TP53 Positive Breast Carcinoma" "obsolete_combined oxidative phosphorylation defect type 17" "level of guanylate-binding protein 2 in blood serum" "genotype" @@ -2470,9 +2470,9 @@ "obsolete_talo-patello-scaphoid osteolysis" "Ovarian cyst" "GDP-fucose protein O-fucosyltransferase 2 measurement" + "age at assessment" "level of tetradecanedioate(2-) in blood" "GM14381" - "age at assessment" "Ververi-Brady syndrome" "genotype design" "sex cord-stromal tumor" @@ -2496,8 +2496,8 @@ "CS57666" "glutathione synthase activity" "level of coatomer subunit epsilon in blood" - "Genetic developmental defect of the eye" "Hypoplastic acetabulae" + "Genetic developmental defect of the eye" "obsolete_penis carcinoma" "transmembrane protein 234 measurement" "(S)-1-pyrroline-5-carboxylate" @@ -2536,30 +2536,30 @@ "terminal nerve" "meristematic cell" "RELT-like protein 1 measurement" - "histone H2A type 3 measurement" "omega-6 polyunsaturated fatty acid change measurement" "FL.02 1/2 of flowers open stage" "48,XXYY syndrome" "endometrium neoplasm" - "level of interferon-induced protein with tetratricopeptide repeats 1 in blood" + "histone H2A type 3 measurement" "systemic mastocytosis" + "level of interferon-induced protein with tetratricopeptide repeats 1 in blood" "superficial epidermolytic ichthyosis" "PEComa" "obsolete_congenital absence/hypoplasia of fingers excluding thumb, bilateral" "C4-OH carnitine measurement" + "UM-UC-1" "level of TOM1-like protein 2 in blood serum" "isolated focal cortical dysplasia type Ib" "mesenchyme derived from head neural crest" "gamma-linolenate" - "UM-UC-1" "joule per square meter" "Prader-Willi syndrome due to translocation" "thyroid lymphoma" "level of histidyl-tRNA synthetase, cytoplasmic in blood serum" "level of ADP-ribosylation factor-like protein 4D in blood serum" "penis" - "cutaneous Paget disease" "Disorder of ornithine metabolism" + "cutaneous Paget disease" "obsolete_NIH3T3-L1" "aneuploidy" "obsolete_posterior lateral line ganglion" @@ -2603,11 +2603,11 @@ "X-21829 measurement" "vitamin B measurement" "trauma exposure measurement"@en + "variant Creutzfeldt-Jakob disease" "isolated growth hormone deficiency type III" "brassinolide" "cortical senile cataract" "level of beta-defensin 135 in blood serum" - "variant Creutzfeldt-Jakob disease" "obsolete_paternal uniparental disomy of chromosome 5" "1-margaroyl-2-oleoyl-GPC (17:0/18:1) measurement" "obsolete_2q23.1 microduplication syndrome" @@ -2628,8 +2628,8 @@ "X-12283 measurement" "level of cyclic nucleotide-gated olfactory channel in blood serum" "level of synaptonemal complex central element protein 1-like in blood serum" - "obsolete_prothoracic gland" "level of methylthioribose-1-phosphate isomerase in blood serum" + "obsolete_prothoracic gland" "Pain" "group XIIB secretory phospholipase A2-like protein" "peptidyl-prolyl cis-trans isomerase FKBP14 measurement" @@ -2712,9 +2712,9 @@ "calpain-2 catalytic subunit measurement" "birdshot chorioretinopathy" "Microcephaly - cardiomyopathy" - "fibrinogen C domain-containing protein 1 measurement" "Chorioretinal degeneration" "normophosphatemic familial tumoral calcinosis" + "fibrinogen C domain-containing protein 1 measurement" "syndromic anorectal malformation" "level of hyaluronan mediated motility receptor in blood" "homeobox protein DLX-4" @@ -2734,8 +2734,8 @@ "bis(5'-adenosyl)-triphosphatase" "mixed testicular germ cell cancer" "MAB-seq" - "obsolete_congenital deformities of fingers" "obsolete_fluid shear stress" + "obsolete_congenital deformities of fingers" "Entamoeba histolytica" "extensor tendons of finger anomalies" "natural killer cell activation" @@ -2749,13 +2749,13 @@ "level of protein GUCD1 in blood serum" "phosphatidylinositol transfer protein beta isoform measurement" "partial androgen insensitivity syndrome" - "obsolete_pure or complex X-linked spastic paraplegia" "obsolete_paroxysmal dyskinesia" - "Primary Pulmonary Diffuse Large B-Cell Lymphoma" + "obsolete_pure or complex X-linked spastic paraplegia" "cone-rod synaptic disorder syndrome, congenital nonprogressive" "[pyruvate dehydrogenase (acetyl-transferring)] kinase isozyme 1; mitochondrial measurement" "lung volume" "erythrocyte galactose epimerase deficiency" + "Primary Pulmonary Diffuse Large B-Cell Lymphoma" "Calcifying Fibrous Tumor" "adult pineal parenchymal tumor" "interferon alpha-14 measurement" @@ -2783,10 +2783,10 @@ "1-methylguanosine" "type 2 lactosamine alpha-2,3-sialyltransferase measurement" "adenylosuccinate synthetase isozyme 1 measurement" - "ursodeoxycholate measurement"@en - "major depressive episode" "obsolete_precursor T lymphoblastic leukemia" + "ursodeoxycholate measurement"@en "Malpighian tubule primordium" + "major depressive episode" "spermatogenic failure 54" "Thermoplasma acidophilum DSM 1728" "X-21339 measurement" @@ -2796,10 +2796,10 @@ "lethal recessive chondrodysplasia" "obsolete_synovial membrane" "obsolete synapse part" - "childhood acute monocytic leukemia" "tonsillar ring" - "level of immunoglobulin heavy constant gamma 4 in blood serum" + "childhood acute monocytic leukemia" "Venous thrombosis" + "level of immunoglobulin heavy constant gamma 4 in blood serum" "POLR3B-related disorder" "level of Axin-2 in blood serum" "functional laterality" @@ -2807,8 +2807,8 @@ "larval day 21-29" "triglycerides to total lipids in small VLDL percentage " "BCL-2-like protein 1 measurement" - "vacuolar protein sorting-associated protein 37A" "KP-3" + "vacuolar protein sorting-associated protein 37A" "level of ribosomal protein S6 kinase alpha-6 in blood serum" "centrosomal protein of 85 kDa" "reticulon-1" @@ -2830,9 +2830,9 @@ "strain" "MAN1B1-congenital disorder of glycosylation" "undisturbed flow regions" - "sphingomyelin 16:1 measurement"@en "septin-10" "obsolete_physiological process" + "sphingomyelin 16:1 measurement"@en "bradypnea" "level of serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform in blood serum" "level of Sterol ester (27:1/20:5) in blood serum" @@ -2856,8 +2856,8 @@ "platelet-derived growth factor subunit A" "glucocorticoid resistance" "(S)-2-hydroxyhexadecanoate" - "glutamate decarboxylase 2" "Peri-Implantitis" + "glutamate decarboxylase 2" "Ras-related protein Rab-6B" "adenosine kinase" "rectum carcinoma in situ" @@ -2881,8 +2881,8 @@ "obsolete_Dianzani autoimmune lymphoproliferative disease" "Streptococcus pneumoniae TIGR4" "obsolete_anorectal malformation" - "obsolete_pure mitochondrial myopathy" "v-set and transmembrane domain-containing protein 2-like protein measurement" + "obsolete_pure mitochondrial myopathy" "fructose-1-phosphate measurement"@en "level of glutathione S-transferase omega-1 in blood serum" "benign mesenchymoma" @@ -2936,11 +2936,11 @@ "alpha globulin measurement" "abdominal obesity-metabolic syndrome 4" "obsolete_isolated autosomal dominant hypomagnesemia, Glaudemans type" - "caprate 10:0 measurement" "fused extravillous trophoblast"@en "CWRU1" "abdominal wall malformation" "intellectual developmental disorder, autosomal dominant 64" + "caprate 10:0 measurement" "level of diacylglycerol kinase beta in blood serum" "fungal-type cell wall" "Phosphoserine aminotransferase deficiency" @@ -2950,16 +2950,16 @@ "osteoprotegerin measurement" "Dehalobacter restrictus" "pediatric ovarian germ cell tumor" - "obsolete_X-linked intellectual disability-retinitis pigmentosa syndrome" "DSM-IV-based non-social scale" "phosphatidylcholine O-34:2" "GM17804" "deafness-hypogonadism syndrome" + "obsolete_X-linked intellectual disability-retinitis pigmentosa syndrome" "Gingivitis" - "severe combined immunodeficiency due to CTPS1 deficiency" "obsolete_Usher syndrome" - "autoimmune encephalitis" + "severe combined immunodeficiency due to CTPS1 deficiency" "obsolete_mucopolysaccharidosis type 4A" + "autoimmune encephalitis" "corneal hysteresis" "Distal hereditary motor neuropathy type 5" "leukocyte cell-derived chemotaxin-2" @@ -2975,8 +2975,8 @@ "hypodermyiasis" "obsolete_potassium-aggravated myotonia" "ADP-ribosylation factor 4" - "obsolete_pseudohypoparathyroidism type 1C" "level of cytohesin-3 in blood serum" + "obsolete_pseudohypoparathyroidism type 1C" "foot fracture" "obsolete_Distal monosomy 6p" "central endosperm" @@ -3016,10 +3016,10 @@ "pregnancy associated osteoporosis" "Lake Victoria marburgvirus - Angola2005" "protein S100-A13 measurement" - "Ptosis - syndactyly - learning difficulties" "cancer or benign tumor" - "versican core protein measurement" + "Ptosis - syndactyly - learning difficulties" "ADULT syndrome" + "versican core protein measurement" "Lobular Breast Carcinoma In Situ" "Cutaneous finger syndactyly" "multiple epiphyseal dysplasia due to collagen 9 anomaly" @@ -3077,8 +3077,8 @@ "postmenopausal atrophic vaginitis" "46,XY disorder of sex development due to cholesterol synthesis defect" "JeKo-1" - "leukocyte immunoglobulin-like receptor subfamily B member 3 measurement" "ovarian leiomyosarcoma" + "leukocyte immunoglobulin-like receptor subfamily B member 3 measurement" "CTLL-2" "trafficking protein particle complex subunit 13" "histo-blood group ABO system transferase measurement" @@ -3096,9 +3096,9 @@ "pityriasis versicolor" "thrombophilia due to activated protein C resistance" "obsolete_congenital laryngomalacia" - "COLO 783" "transcriptional repressor NF-X1" "level of Val-Leu in blood" + "COLO 783" "RIN2 syndrome" "protein turtle homolog B" "mediastinum rhabdomyosarcoma" @@ -3179,8 +3179,8 @@ "adult T acute lymphoblastic leukemia" "classic lissencephaly" "ceramide synthase 5" - "Strabismus" "general transcription factor II-I measurement" + "Strabismus" "IgG disialylation measurement" "level of cytochrome c oxidase assembly protein COX19 in blood serum" "glycogen storage disease due to muscle beta-enolase deficiency" @@ -3226,9 +3226,9 @@ "level of aldo-keto reductase family 1 member D1 in blood serum" "AMMECR1-like protein" "obsolete_Peters anomaly" - "mammaglobin-b measurement" "obsolete_cardiac ventricle" "Strand-seq" + "mammaglobin-b measurement" "level of syntaxin-3 in blood serum" "smooth muscle myoblast" "obsolete_congenital glaucoma" @@ -3263,10 +3263,10 @@ "very low-density lipoprotein receptor" "coiled-coil domain-containing protein 90B, mitochondrial" "butyrophilin subfamily 2 member A2" + "thymus hyperplasia" "GATA2 deficiency with susceptibility to MDS/AML" "dyskeratosis congenita and related telomere biology disorder" "level of defensin beta 136 in blood serum" - "thymus hyperplasia" "(R)-2-hydroxyoctadecanoate" "coagulation factor XI" "trisomy" @@ -3286,8 +3286,8 @@ "cytosolic phospholipase A2" "mean fractional anisotropy measurement" "familial cold autoinflammatory syndrome 2" - "level of interferon-induced, double-stranded RNA-activated protein kinase in blood" "Hepatitis B virus surface antigen seropositivity" + "level of interferon-induced, double-stranded RNA-activated protein kinase in blood" "spondylometaphyseal dysplasia with corneal dystrophy" "HUES8" "level of platelet-derived growth factor D in blood serum" @@ -3305,16 +3305,16 @@ "ankylosing spondylitis" "MELAS" "cytohesin-4 measurement" - "anemia, hypochromic microcytic with iron overload" "X-21830 measurement" + "anemia, hypochromic microcytic with iron overload" "hip bone size" "portal endothelial cell"@en "centrosome-associated protein 350" "familial cylindromatosis" - "obsolete_paternal uniparental disomy of chromosome 6" "level of ribonucleoside-diphosphate reductase subunit M2 B in blood serum" "serine protease inhibitor Kazal-type 4" "Isolated polycystic liver disease" + "obsolete_paternal uniparental disomy of chromosome 6" "protein phosphatase 1M" "mediastinum" "level of polyadenylate-binding protein 3 in blood serum" @@ -3342,8 +3342,8 @@ "level of ubiquitin-conjugating enzyme E2 Z in blood" "Genetic syndrome with limb malformations as a major feature" "hypopharyngeal sense organ" - "SEC61A1 deficiency" "Chronic pain" + "SEC61A1 deficiency" "phospholipase A2" "RNA demethylase ALKBH5 measurement" "obsolete_corpus cardiacum" @@ -3372,26 +3372,26 @@ "villin-like protein" "Illumina Genome Analyzer standard manufacturer's protocol" "Dermatochalasis" - "obsolete_motor stereotypies" "1-oleoylglycerophosphoethanolamine measurement" - "X-linked spastic paraplegia type 16" + "obsolete_motor stereotypies" "level of cadherin-4 in blood serum" + "X-linked spastic paraplegia type 16" "level of EF-hand domain-containing protein D1 in blood serum" "beta-hexosaminidase subunit beta" "X-25802 measurement" "obsolete_Hearing Loss, Noise-Induced" "level of visual system homeobox 1 in blood serum" - "obsolete_autosomal dominant intermediate Charcot-Marie-Tooth disease" "phosphatidylcholine 36:0 measurement" "MIA Paca-2" + "obsolete_autosomal dominant intermediate Charcot-Marie-Tooth disease" "cAMP-dependent protein kinase type I-beta regulatory subunit measurement" "interleukin-1 beta (Homo sapiens)" "glutamine metabolic process" "replication initiator 1 measurement" "thiopurine S-methyltransferase deficiency" "neurotrophin-3 measurement" - "Ectodermal dysplasia - sensorineural deafness" "level of islet cell autoantigen 1 in blood" + "Ectodermal dysplasia - sensorineural deafness" "Hypothermia" "focal dystonia" "isolated focal cortical dysplasia type Ic" @@ -3448,8 +3448,8 @@ "peripheral nerve injury" "INC-2 cell" "Fragaria x ananassa" - "recombinant 8 syndrome" "Head and Neck Paraganglioma" + "recombinant 8 syndrome" "obsolete_campomelic dysplasia" "GC-2" "concentration dose ratio" @@ -3491,10 +3491,10 @@ "Speech apraxia" "Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency" "endophilin-B2" - "4-acetamidobenzoate measurement" "ventricular enlargement measurement"@en "diglyceride measurement"@en "familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome" + "4-acetamidobenzoate measurement" "pathogenicity" "level of proline-rich AKT1 substrate 1 in blood serum" "Rectal Tubular Adenoma" @@ -3581,10 +3581,10 @@ "kynurenic acid" "BTB/POZ domain-containing protein KCTD5" "obsolete_iridocorneal endothelial syndrome" - "obsolete_gastrointestinal stromal tumor" "obsolete_spinocerebellar ataxia type 7" - "female athlete triad syndrome" + "obsolete_gastrointestinal stromal tumor" "Moderate global developmental delay" + "female athlete triad syndrome" "Al Kaissi syndrome" "classic or attenuated familial adenomatous polyposis" "Brown Norway" @@ -3593,15 +3593,15 @@ "history of neurodevelopmental disorder"@en "lymphotoxin-alpha measurement" "neutrophil immunodeficiency syndrome" - "X-linked intellectual disability, Golabi-Ito-hall type" "L-Proline measurement" + "X-linked intellectual disability, Golabi-Ito-hall type" "12q15q21.1 microdeletion syndrome" "adult-onset autosomal dominant demyelinating leukodystrophy" "Behr syndrome" "acetylcholinesterase" "growth phase culture" - "degeneration of macula and posterior pole" "obsolete_intermittent hydrarthrosis" + "degeneration of macula and posterior pole" "multiple epiphyseal dysplasia type 5" "ubiquitin carboxyl-terminal hydrolase 19" "obsolete hereditary vascular anomaly" @@ -3622,13 +3622,13 @@ "methylmalonic acidemia" "Tolchin-Le Caignec syndrome" "dual 3';5'-cyclic-AMP and -GMP phosphodiesterase 11A measurement" - "Familial esophageal achalasia" "generalized galactose epimerase deficiency" + "Familial esophageal achalasia" "Calcifying Nested Epithelial Stromal Tumor of the Liver" "nucleoside diphosphate kinase B measurement" "level of ubiquitin-conjugating enzyme E2 R2 in blood serum" - "obsolete_BA/F3 cell" "congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome" + "obsolete_BA/F3 cell" "band 4.1-like protein 5" "obsolete_Lennox-Gastaut syndrome" "level of Na(+)/H(+) exchange regulatory cofactor NHE-RF1 in blood" @@ -3689,12 +3689,12 @@ "protein LZIC" "genetic modification design" "hydrocephalus, congenital, 3, with brain anomalies" - "Multiple sclerosis - ichthyosis - factor VIII deficiency" "ethanolamine kinase 1" - "corneal resistance factor" - "drug-induced pemphigus" + "Multiple sclerosis - ichthyosis - factor VIII deficiency" "phosphotriesterase-related protein" "tiling array" + "corneal resistance factor" + "drug-induced pemphigus" "level of sorting nexin-5 in blood serum" "R9" "obsolete_distal trisomy 14q" @@ -3711,8 +3711,8 @@ "uncharacterized protein C1orf226 (human)" "Low Grade Central Osteosarcoma" "bone neoplasm" - "obsolete_distal monosomy 7p" "B-cell immunodeficiency, distal limb anomalies, and urogenital malformations" + "obsolete_distal monosomy 7p" "glial brain cell" "Cribriform Carcinoma" "xanthomonas seropositivity" @@ -3724,8 +3724,8 @@ "Chlamydia trachomatis infectious disease" "obsolete_superior cervical ganglion" "apolipoprotein A-IV measurement" - "Phaseolus coccineus" "dimethyl fumarate" + "Phaseolus coccineus" "coated vesicle membrane" "squamous cell carcinoma of rectum" "lung adenocarcinoma in situ" @@ -3769,8 +3769,8 @@ "adrenergic antagonist" "Cranial meningocele" "obsolete_brachyolmia-amelogenesis imperfecta syndrome" - "deoxycholic acid 3-sulfate measurement" "pityriasis rosea" + "deoxycholic acid 3-sulfate measurement" "Usher syndrome type 1" "Arabidopsis suecica" "Bile acid synthesis defect with cholestasis and malabsorption" @@ -3802,18 +3802,18 @@ "retinoid-inducible serine carboxypeptidase" "COLO 792" "Abnormal circulating lipid concentration" - "obsolete_Micrencephaly - corpus callosum agenesis - abnormal genitalia" - "obsolete_atypical hemolytic-uremic syndrome with thrombomodulin anomaly" "Juvenile Osteochondrosis" "obsolete_sepsis" "inclusion body myositis" "major salivary gland" "level of coiled-coil domain-containing protein 24 in blood serum" "androstenediol (3beta,17beta) disulfate (1) measurement" - "N-acetyl-isoputreanine measurement" + "obsolete_atypical hemolytic-uremic syndrome with thrombomodulin anomaly" "inter-alpha-trypsin inhibitor heavy chain h4 measurement" "thyrotropin subunit beta" "level of thiamin pyrophosphokinase 1 in blood serum" + "obsolete_Micrencephaly - corpus callosum agenesis - abnormal genitalia" + "N-acetyl-isoputreanine measurement" "Hypogonadotropic hypogonadism" "Roberts-SC phocomelia syndrome" "obsolete_neuronal ceroid lipofuscinosis" @@ -3866,8 +3866,8 @@ "obsolete_pseudopseudohypoparathyroidism" "dorsal root ganglia homeobox protein" "amelogenesis imperfecta type 1G" - "Brachydactyly - arterial hypertension" "O-[(4Z)-decenoyl]carnitine" + "Brachydactyly - arterial hypertension" "obsolete_double outlet right ventricle with subpulmonary ventricular septal defect" "HNT-34" "X-22508 measurement" @@ -3989,10 +3989,10 @@ "Synechococcus sp. CC9311" "interleukin 17 receptor D measurement" "Rickets" - "obsolete_ring chromosome 17" "piperidin-2-one" "partial duplication of the long arm of chromosome 3" "extracellular matrix" + "obsolete_ring chromosome 17" "lymphocyte count" "circulating alpha-Klotho measurement"@en "Golgi transport complex" @@ -4158,14 +4158,14 @@ "immunoglobulin superfamily DCC subclass member 3 measurement" "palmitoyl-linoleoyl-glycerol (16:0/18:2) [1] measurement" "obsolete_Ruvalcaba syndrome" - "facial dysmorphism-immunodeficiency-livedo-short stature syndrome" "oxoadipic acid measurement" + "phospholipase B-like 1 measurement" + "facial dysmorphism-immunodeficiency-livedo-short stature syndrome" "Bell's palsy" "cyclin-H" "hypervalinemia and hyperleucine-isoleucinemia" "Anterior synechiae of the anterior chamber" "phospholipase A and acyltransferase 3" - "phospholipase B-like 1 measurement" "obsolete_multiple endocrine neoplasia type 2A" "obsolete_ganglion" "lipocalin-1" @@ -4324,8 +4324,8 @@ "X-linked intellectual disability, Sutherland-Haan type" "neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" "obsolete_snowflake vitreoretinal degeneration" - "ferulylglycine (2) measurement" "Dyspareunia" + "ferulylglycine (2) measurement" "RNA-binding protein 24" "posterior thigh muscle volume"@en "Sheldon-hall syndrome" @@ -4455,8 +4455,8 @@ "Oculomotor palsy" "obsolete_soleus muscle" "functional brain measurement" - "naproxen" "Congenital tracheomalacia" + "naproxen" "Primary glaucoma" "olfactory nerve" "level of prosaposin receptor GPR37 in blood" @@ -4503,8 +4503,8 @@ "endothelial differentiation-related factor 1 measurement" "MGAT2-congenital disorder of glycosylation" "connective tissue neoplasm" - "obsolete_euryblepharon" "S49" + "obsolete_euryblepharon" "AIDS related complex" "transmembrane protease serine 11D" "diacylglycerol 36:5 measurement" @@ -4521,12 +4521,12 @@ "GM08436" "vesicle-fusing ATPase measurement" "adrenodoxin, mitochondrial" - "obsolete_familial Dupuytren contracture" "malignant non-dysgerminomatous germ cell tumor of ovary" + "obsolete_familial Dupuytren contracture" "obsolete_lateral cord neuron" - "level of tyrosine-protein kinase transmembrane receptor ROR1 in blood" "RING finger protein 24" "interleukin-17 receptor A" + "level of tyrosine-protein kinase transmembrane receptor ROR1 in blood" "glutathione" "protein c deficiency" "testicular mixed germ cell tumor"@en @@ -4570,17 +4570,17 @@ "phosphatidylinositol transfer protein beta isoform" "level of transcription factor HES-3 in blood serum" "hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2" + "chronic rhinosinusitis" "uterine corpus epithelioid leiomyoma" "leucine-rich repeat transmembrane protein FLRT2 measurement" "cholesterol-ester transfer protein deficiency" "level of FERM domain-containing protein 7 in blood" "epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive" - "chronic rhinosinusitis" "HiTS-Flip" "Perrault syndrome 1" "age of onset of myopia" - "obsolete_X-linked neurodegenerative syndrome, Bertini type" "GM17811" + "obsolete_X-linked neurodegenerative syndrome, Bertini type" "obsolete_sclerosteosis" "S-adenosylhomocysteine hydrolase-like protein 1" "pregnancy-specific beta-1-glycoprotein 2 measurement" @@ -4603,8 +4603,8 @@ "central retinal vein" "non-typhoidal Salmonella bacteremia" "blastic plasmacytoid dendritic cell neoplasm" - "obsolete_lethal occipital encephalocele-skeletal dysplasia syndrome" "developmental and epileptic encephalopathy 97" + "obsolete_lethal occipital encephalocele-skeletal dysplasia syndrome" "gliosarcoma" "Cutaneous Follicular Lymphoma" "non-syndromic limb reduction defect" @@ -4631,17 +4631,17 @@ "Charcot-Marie-Tooth disease recessive intermediate B" "obsolete_glaucoma" "Skin vesicle" - "Theiler stage 12" "level of voltage-gated potassium channel KCNC4 in blood" "polydactyly of an index finger" "level of insulin-like growth factor-binding protein complex acid labile chain in blood serum" + "Theiler stage 12" "linker for activation of T-cells family member 1" "level of chymotrypsinogen B in blood serum" "thoracic segment of trunk" "byssinosis" "Peripheral pulmonary artery stenosis" - "level of ER membrane protein complex subunit 8 in blood serum" "obsolete_craniofacial-deafness-hand syndrome" + "level of ER membrane protein complex subunit 8 in blood serum" "M426"@en "level of diphosphoinositol polyphosphate phosphohydrolase 3-beta in blood serum" "level of plastin-1 in blood serum" @@ -4649,8 +4649,8 @@ "psychosocial stress measurement" "neural stem cell" "tricuspid valve disease" - "Muscle spasm" "glycochenodeoxycholate 3-sulfate measurement" + "Muscle spasm" "Usher syndrome type 2A" "obsolete_21q22.11q22.12 microdeletion syndrome" "obsolete_Neonatal adrenoleukodystrophy" @@ -4712,12 +4712,12 @@ "combined oxidative phosphorylation defect type 8" "lepromatous leprosy" "Capsella rubella" + "N-docosanoyl taurine measurement" + "3-hydroxy-5-cholestenoic acid measurement" "sensory nervous system primordium" "metalloreductase STEAP4" - "3-hydroxy-5-cholestenoic acid measurement" "Oliver syndrome" "mitochondrial Rho GTPase 1" - "N-docosanoyl taurine measurement" "sleep" "familial cold autoinflammatory syndrome" "vitelline membrane outer layer protein 1" @@ -4767,10 +4767,10 @@ "high mobility group nucleosome-binding domain-containing protein 3" "level of inositol 1,4,5-trisphosphate receptor-interacting protein-like 1 in blood serum" "uterine body mixed cancer" - "MODY" "oxalic acid measurement" "level of N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 in blood serum" "follicular mucinosis" + "MODY" "kidney oncocytoma" "myoneurin" "Huntington disease-like 2" @@ -4819,8 +4819,8 @@ "obsolete_accumbens nucleus" "lissencephaly type 3" "CD8-positive T-lymphocyte count" - "ligament" "malonic aciduria" + "ligament" "ciliary dyskinesia, primary, 50" "megacystis-microcolon-intestinal hypoperistalsis syndrome 5" "MORF4 family-associated protein 1-like 1" @@ -4837,9 +4837,9 @@ "mediastinal schwannoma" "hMeDIP-seq" "interleukin-1 beta (Rattus norvegicus)" + "vinculin measurement" "spondylolysis" "Bardet-Biedl syndrome 15" - "vinculin measurement" "retinaldehyde-binding protein 1 measurement" "cortisone reductase deficiency" "obsolete progressive cerebello-cerebral atrophy" @@ -4877,10 +4877,10 @@ "obsolete_selective pituitary resistance to thyroid hormone" "osteopenia-intellectual disability-sparse hair syndrome" "pyridoxal phosphate homeostasis protein PLPBP" - "obsolete_mucoepidermoid tumor" "Yamato-SS"@en "colorectal health" "2p21 microdeletion syndrome without cystinuria" + "obsolete_mucoepidermoid tumor" "Ovarian Granulosa Cell Tumor" "stem internode" "obsolete primary renal tubular acidosis" @@ -4889,12 +4889,12 @@ "homeostatic process" "Autosomal recessive spastic ataxia - optic atrophy - dysarthria" "46,XY disorder of sex development due to impaired androgen production" - "obsolete_Autosomal recessive chorioretinopathy-microcephaly" - "obsolete_dihydropteridine reductase deficiency" - "firmicutes seropositivity" "corpus uteri neoplasm" "obsolete_response to homoharringtonine" + "obsolete_Autosomal recessive chorioretinopathy-microcephaly" "jasmonic acid" + "obsolete_dihydropteridine reductase deficiency" + "firmicutes seropositivity" "cocaine abuse" "2-linoleoyl-sn-glycero-3-phosphocholine" "hepatitis, fulminant viral, susceptibility to" @@ -5002,7 +5002,6 @@ "Eukaryota" "RNA-binding protein 28 measurement" "WSU-DLCL2" - "eye morphology measurement" "body fat distribution" "4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9" "X-linked parkinsonism-spasticity syndrome" @@ -5010,6 +5009,7 @@ "autoimmune atherosclerosis" "sodium 8-bromo-3',5'-cyclic GMP" "receptor-type tyrosine-protein phosphatase N2" + "eye morphology measurement" "hormone replacement therapy" "intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects" "Methyl-seq" @@ -5148,13 +5148,13 @@ "lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13" "obsolete_familial atrial myxoma" - "level of palmitoyl-protein thioesterase 1 in blood serum" "obsolete_monocytopenia with susceptibility to infections" + "level of palmitoyl-protein thioesterase 1 in blood serum" "level of trans-3-hydroxy-L-proline dehydratase in blood serum" "optic cup area measurement" "galactosylceramidase activity" - "SDS-PAGE" "Zymoseptoria tritici" + "SDS-PAGE" "hyperemia" "potassium measurement" "bacillus phage virus seropositivity" @@ -5211,9 +5211,9 @@ "oxidized purine nucleoside triphosphate hydrolase" "epidermolysis bullosa simplex 2B, generalized intermediate" "level of death-inducer obliterator 1 in blood serum" - "visceral:total adipose tissue ratio" "Golgi-resident adenosine 3',5'-bisphosphate 3'-phosphatase" "level of phosphoglycerate kinase 2 in blood serum" + "visceral:total adipose tissue ratio" "microcephaly-micromelia syndrome" "polyunsaturated fatty acid lipoxygenase ALOX15B" "Pan troglodytes troglodytes" @@ -5271,8 +5271,8 @@ "ferredoxin-2, mitochondrial" "obsolete_otopalatodigital syndrome type 1" "Congenital anonychia" - "obsolete_embryonic leading edge cell" "deafness dystonia syndrome" + "obsolete_embryonic leading edge cell" "level of protein XRP2 in blood" "GM20431" "somatic genotype" @@ -5305,8 +5305,8 @@ "inclusion body myopathy with Paget disease of bone and frontotemporal dementia" "response to lapatinib" "leucine-rich repeat transmembrane protein FLRT3 measurement" - "5,6-dihydroxyindole-2-carboxylic acid oxidase" "cystitis" + "5,6-dihydroxyindole-2-carboxylic acid oxidase" "facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome" "tumor necrosis factor receptor superfamily member 3" "age of onset of refractive error" @@ -5393,8 +5393,8 @@ "hemolytic anemia due to erythrocyte adenosine deaminase overproduction" "multi fate stem cell" "obsolete_perinatal lethal hypophosphatasia" - "Psoas abscess" "punctate palmoplantar keratoderma type III" + "Psoas abscess" "endothelin-2 measurement" "vanillylmandelate" "occipital lobe" @@ -5425,8 +5425,8 @@ "bleomycin A2" "level of semaphorin-4B in blood serum" "protein LAP4" - "COLO 849" "obsolete_rhizomelic dysplasia, Patterson-Lowry type" + "COLO 849" "risk-taking behaviour" "Burkholderia thailandensis" "cirrhosis of liver" @@ -5445,8 +5445,8 @@ "secreted frizzled-related protein 2" "Hs 675.T" "Yersinia infectious disease" - "thrombomodulin measurement" "Vero" + "thrombomodulin measurement" "floor plate of neural tube" "vasculature of retina" "mononuclear odontoclast" @@ -5505,11 +5505,11 @@ "microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome" "obsolete Dysautonomia" "Finnish upper limb-onset distal myopathy" - "fetuin-B measurement" "level of pepsin A-4 in blood" "phenylalanine--tRNA ligase, mitochondrial" "L428" "level of adaptin ear-binding coat-associated protein 2 in blood" + "fetuin-B measurement" "C-type lectin domain family 4 member E measurement" "Escherichia coli UTI89" "level of intersectin-1 in blood serum" @@ -5644,14 +5644,14 @@ "Ect1" "X-21839 measurement" "X-linked dominant hypophosphatemic rickets" - "3q29 microduplication" "obsolete_paternal uniparental disomy of chromosome 20" + "3q29 microduplication" "septin-9" "odontogenesis" "Neoplasm of the lung" - "thyrotropin-releasing hormone measurement" "putative uncharacterized protein ANP32CP" "Bacillus weihenstephanensis" + "thyrotropin-releasing hormone measurement" "HCC0060" "obsolete_anther" "ATP-dependent DNA helicase Q1" @@ -5707,9 +5707,9 @@ "obsolete_Gaucher disease" "Postaxial polydactyly of toes, bilateral" "gastrula 80%-epiboly" - "C-X-C motif chemokine 9 measurement" "hydroxyhexadecanoylcarnitine measurement"@en "dickkopf‐related protein 1 measurement"@en + "C-X-C motif chemokine 9 measurement" "level of carcinoembryonic antigen-related cell adhesion molecule 5 in blood" "DKMG" "calpain I measurement" @@ -5747,10 +5747,10 @@ "Leucoraja erinacea" "obsolete_Donnai-Barrow syndrome" "Illumina HiSeq 1000 standard manufacturer's protocol" + "encephalomalacia" "level of cyclin-dependent kinase 2-associated protein 1 in blood serum" "Abnormal platelet aggregation" "dextro-looped transposition of the great arteries" - "encephalomalacia" "Salmonella enterica subsp. enterica serovar Kentucky" "CMRF35-like molecule 1" "apocrine sweat gland" @@ -5771,14 +5771,14 @@ "level of leucine-rich repeat-containing protein 3 in blood serum" "level of methanethiol oxidase in blood serum" "Microcephaly - seizures - intellectual disability - heart disease" - "acute myeloid leukemia, del(5q31-q32)" "Maxillonasal dysplasia" - "Abnormal sex determination" + "acute myeloid leukemia, del(5q31-q32)" "autosomal recessive hereditary sensory and autonomic neuropathy" + "Abnormal sex determination" "flagellin seropositivity" "proteasome-associated autoinflammatory syndrome 5" - "Kilquist syndrome" "oleoyl-arachidonoyl-glycerol (18:1/20:4) [2] measurement" + "Kilquist syndrome" "aorta" "developmental and epileptic encephalopathy, 45" "sterol biosynthesis disorder" @@ -5857,8 +5857,8 @@ "blepharophimosis-impaired intellectual development syndrome" "Lacrimation abnormality" "Jeffries-Lakhani neurodevelopmental syndrome" - "childhood T lymphoblastic lymphoma" "level of protein Red in blood serum" + "childhood T lymphoblastic lymphoma" "Agrotis ipsilon" "DMS153" "congenital" @@ -5891,8 +5891,8 @@ "level of polyglutamine-binding protein 1 in blood serum" "ureter" "diphosphoinositol polyphosphate phosphohydrolase 3-alpha" - "level of TBC1 domain family member 28 in blood serum" "grip strength measurement" + "level of TBC1 domain family member 28 in blood serum" "familial cutaneous collagenoma" "comparative genomic hybridization (CGH)" "obsolete_spinal muscular atrophy" @@ -5941,13 +5941,13 @@ "adaptin ear-binding coat-associated protein 2" "obsolete leukoencephalopathy with vanishing white matter" "Myeloid maturation arrest" - "dibutyl phthalate measurement"@en "level of GTP-binding protein Di-Ras1 in blood serum" "pyruvate dehydrogenase E1-beta deficiency" "ribonuclease P protein subunit p30" "obsolete_paraventricular organ" - "intra-individual reaction time variability measurement" + "dibutyl phthalate measurement"@en "level of 6-phosphogluconolactonase in blood serum" + "intra-individual reaction time variability measurement" "level of 1-O-(1Z-eicosenyl)-sn-glycero-3-phospho-1D-myo-inositol in blood serum" "polyunsaturated fatty acid 5-lipoxygenase" "opioid-binding protein/cell adhesion molecule measurement" @@ -5967,10 +5967,10 @@ "obsolete_Monosomy 18q" "level of RING-type E3 ubiquitin-protein ligase PPIL2 in blood serum" "VIP36-like protein measurement" - "obsolete_familial congenital palsy of trochlear nerve" "obsolete_embryonic ventral apodeme" "Bacillus cereus G9842" "endometrial mixed adenocarcinoma" + "obsolete_familial congenital palsy of trochlear nerve" "HFFc6" "germline genotype" "uterine corpus undifferentiated sarcoma"@en @@ -6011,9 +6011,9 @@ "age of onset of narcolepsy-cataplexy syndrome" "level of carbohydrate sulfotransferase 14 in blood serum" "level of adhesion G protein-coupled receptor L3 in blood serum" + "pregnancy-specific beta-1-glycoprotein 8 measurement" "X-linked corneal dermoid" "Bilateral ptosis" - "pregnancy-specific beta-1-glycoprotein 8 measurement" "middle ear adenocarcinoma" "level of core-binding factor subunit beta in blood serum" "grpE protein homolog 1, mitochondrial measurement" @@ -6050,18 +6050,18 @@ "obsolete_Sotos syndrome" "obsolete PIK3CA-related overgrowth syndrome" "adrenomyodystrophy" - "obsolete_cerebrotendinous xanthomatosis" - "1-oleoylglycerol (18:1) measurement" "Gossypium hirsutum" "NT-1" "embryonic labial sensory complex" - "HSD10 disease" + "1-oleoylglycerol (18:1) measurement" "insulin gene enhancer protein ISL-1" - "trichostrongylosis" + "obsolete_cerebrotendinous xanthomatosis" + "HSD10 disease" "KARPAS-620" "level of alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 in blood serum" "level of actin-related protein 2/3 complex subunit 3 in blood serum" "level of Phosphatidylinositol (18:0_18:1) in blood serum" + "trichostrongylosis" "Oncorhynchus kisutch" "obsolete_Barth syndrome" "interleukin-1 receptor-associated kinase 1" @@ -6088,12 +6088,12 @@ "CD103-negative, langerin-positive lymph node dendritic cell" "Haliotis asinina" "GM12751" - "TC-Seq" "Nager acrofacial dysostosis" "level of 1-(8-[3]-ladderane-octanoyl)-2-(8-[3]-ladderane-octanyl)-sn-glycerol in blood serum" "level of CD99 molecule-like protein 2 in blood" "myopathy, congenital, with respiratory insufficiency and bone fractures" "Caenorhabditis" + "TC-Seq" "betaine--homocysteine S-methyltransferase 2" "chronic lung disease" "level of neurexin-3-alpha in blood" @@ -6129,9 +6129,9 @@ "myocyte-specific enhancer factor 2C measurement" "cerebellar ataxia, brain abnormalities, and cardiac conduction defects" "obsolete embryonic esophageal ganglion" - "Pubic Symphysis Diastasis" "familial vesicoureteral reflux" "reactive cutaneous fibrous lesion" + "Pubic Symphysis Diastasis" "enhancer of rudimentary homolog measurement" "TSH producing pituitary tumor" "phosphate ion" @@ -6139,8 +6139,8 @@ "J-774A.1" "neuronopathy, distal hereditary motor, type 5C" "myeloid dendritic cell" - "SKBR3" "1-pentadecanoyl-2-arachidonoyl-GPC (15:0/20:4) measurement" + "SKBR3" "aleutian mink disease" "HRE" "cP-RNA-Seq" @@ -6156,12 +6156,12 @@ "Cerebral visual impairment" "total iron binding capacity" "(lyso)-N-acylphosphatidylethanolamine lipase" - "obsolete_secondary dysgenetic glaucoma" - "4-androsten-3alpha,17alpha-diol monosulfate (2) measurement" "UV excision repair protein RAD23 homolog B" "benign male reproductive system neoplasm" "autosomal recessive omodysplasia" + "4-androsten-3alpha,17alpha-diol monosulfate (2) measurement" "Prominent forehead" + "obsolete_secondary dysgenetic glaucoma" "N-lignoceroyl taurine measurement" "Flexion contracture" "hepatosplenic T-cell lymphoma" @@ -6199,8 +6199,8 @@ "SB 224289 hydrochloride" "RNA-binding Raly-like protein" "obsolete_combined oxidative phosphorylation defect type 7" - "level of myeloid-derived growth factor in blood" "obsolete_generalized peeling skin syndrome type C" + "level of myeloid-derived growth factor in blood" "level of enhancer of filamentation 1 in blood" "obsolete_qualitative or quantitative defects of protein ZASP" "Pseudomonas putida KT2440" @@ -6215,11 +6215,11 @@ "obsolete_granulosa cell layer" "hemorrhagic duodenitis" "intact parathyroid hormone measurement" - "Morton Neuroma" "enrichment protocol" + "Morton Neuroma" "lymphedema" - "level of melanoma-associated antigen 8 in blood serum" "spastic cerebral palsy" + "level of melanoma-associated antigen 8 in blood serum" "level of epidermal growth factor receptor kinase substrate 8-like protein 3 in blood serum" "ciliogenesis-associated TTC17-interacting protein" "level of homeobox protein MSX-2 in blood serum" @@ -6240,8 +6240,8 @@ "immunodeficiency 19" "olfactomedin-like protein 1" "Charcot-Marie-Tooth disease type 2E" - "receptor-type tyrosine-protein phosphatase C" "TNF-related activation-induced cytokine measurement" + "receptor-type tyrosine-protein phosphatase C" "Pallister-Hall syndrome" "stationary phase culture" "level of medium-chain acyl-CoA ligase ACSF2, mitochondrial in blood serum" @@ -6321,9 +6321,9 @@ "secreted frizzled-related protein 4" "Drugs affecting bone structure and mineralization use measurement" "interleukin-5 receptor subunit alpha" + "obsolete_frontonasal dysplasia" "Ovarian Leydig Cell Tumor" "Hallux valgus" - "obsolete_frontonasal dysplasia" "obsolete_juvenile Huntington disease" "apical meristem" "intellectual disability, autosomal dominant 41" @@ -6335,8 +6335,8 @@ "p-acetamidophenylglucuronide measurement" "fatty acid synthase" "obsolete_ring chromosome 20" - "self rated health" "autoimmune hemolytic anemia, cold type" + "self rated health" "level of sulfotransferase 2A1 in blood serum" "Keppen-Lubinsky syndrome" "level of ubiquilin-4 in blood serum" @@ -6376,11 +6376,11 @@ "partial duplication of the long arm of chromosome 6" "Chronic Obstructive Asthma" "obsolete_Leydig cell hypoplasia due to partial LH resistance" - "obsolete_axial mesodermal dysplasia spectrum" "coiled-coil domain-containing protein 134 measurement" "trunk bone mineral density"@en "Nail dystrophy" "level of RNA-binding protein Nova-1 in blood serum" + "obsolete_axial mesodermal dysplasia spectrum" "ectodermal dysplasia-sensorineural deafness syndrome" "retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta" "saturated fatty acids to total fatty acids percentage " @@ -6390,8 +6390,8 @@ "uterine ligament mucinous adenocarcinoma" "bMERB domain-containing protein 1" "obsolete_paternal uniparental disomy of chromosome 21" - "serine protease inhibitor Kazal-type 7" "Polyneuropathy - intellectual disability - acromicria - premature menopause" + "serine protease inhibitor Kazal-type 7" "Hypertelorism-microtia-facial clefting syndrome" "serine/threonine-protein phosphatase PP1-gamma catalytic subunit" "3’-end-seq" @@ -6498,8 +6498,8 @@ "level of reelin in blood serum" "urine glucose measurement" "ribonucleoside metabolic process" - "3-methyl-2-oxovalerate measurement" "torsion dystonia 4" + "3-methyl-2-oxovalerate measurement" "thioredoxin" "Abnormality of chromosome segregation" "fetal akinesia deformation sequence" @@ -6587,8 +6587,8 @@ "chymotrypsin-like elastase family member 2A" "autosomal recessive nonsyndromic hearing loss 18A" "disintegrin and metalloproteinase domain-containing protein 11" - "phosphatidylcholine ether measurement"@en "Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions" + "phosphatidylcholine ether measurement"@en "level of Bcl-2-like protein 15 in blood" "level of retinal dehydrogenase 2 in blood serum" "2-oxobutanoate" @@ -6607,8 +6607,8 @@ "macular corneal dystrophy" "level of leucine-rich repeat-containing protein 20 in blood serum" "facial pigmentation measurement" - "obsolete_Congenital primary lymphedema" "heat shock protein beta-6" + "obsolete_Congenital primary lymphedema" "testicular carcinoma" "FG syndrome 2" "level of cyclin-dependent kinase-like 2 in blood serum" @@ -6625,9 +6625,9 @@ "tetraploidy syndrome" "sperm" "Leu-Phe" + "loiasis" "level of elongation factor 1-gamma in blood serum" "level of Ras-related protein Rab-7b in blood serum" - "loiasis" "obsolete_liver heptocellular carcinoma" "Lipoma associated with neurospinal dysraphism" "level of translational activator of cytochrome c oxidase 1 in blood serum" @@ -6667,8 +6667,8 @@ "virgin" "Neonatal hypotonia" "dihydropyrimidinase-related protein 2" - "Thyroid Gland Undifferentiated (Anaplastic) Carcinoma" "diaphanospondylodysostosis" + "Thyroid Gland Undifferentiated (Anaplastic) Carcinoma" "chronic myelogenous leukemia cell line" "Upper limb spasticity" "4-hydroxychlorothalonil measurement" @@ -6854,10 +6854,10 @@ "diacylglycerol 38:5 measurement" "CPT-seq" "angiographic measurement" - "HUVEC cell line" "SKGT4" - "coiled-coil domain-containing protein 24" + "HUVEC cell line" "level of campesterol 3-beta-D-glucoside in blood serum" + "coiled-coil domain-containing protein 24" "myopathy, congenital proximal, with minicore lesions" "Caenorhabditis briggsae" "TCC" @@ -6918,8 +6918,8 @@ "isthmin-2" "level of NEDD8-conjugating enzyme UBE2F in blood serum" "humero-radio-ulnar synostosis, unilateral" - "Fusarium avenaceum" "Glaucoma associated with neural crest cell migration anomaly" + "Fusarium avenaceum" "transcription factor IIIb 90 kda subunit measurement" "Tented upper lip vermilion" "sorting nexin-17 measurement" @@ -7317,14 +7317,14 @@ "whole-brain volume" "Lesch-Nyhan syndrome" "Hepatic hemangioma" - "SPARC-like protein 1 measurement" "UMC11" + "SPARC-like protein 1 measurement" "coronary artery calcification" "retinal vascular disorder" "2-hydroxyglutaric acid measurement"@en + "Eosinophilic Metamyelocyte Count" "zebrafish embryonic structure" "embryonic day 11.5" - "Eosinophilic Metamyelocyte Count" "glucagon-like peptide-1 measurement" "5-hydroxytryptamine receptor 2A" "Subcutaneous neurofibroma" @@ -7347,8 +7347,8 @@ "desmoplastic/nodular medulloblastoma" "CB205" "cerulean cataract" - "coiled-coil domain-containing protein 28A" "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome" + "coiled-coil domain-containing protein 28A" "receptor-type tyrosine-protein phosphatase R" "obsolete_Bruck syndrome" "gestational choriocarcinoma" @@ -7422,8 +7422,8 @@ "level of ubiquitin-protein ligase E3A in blood serum" "congenitally uncorrected transposition of the great arteries with cardiac malformation" "obsolete_ringed hair disease" - "eosinophilic myelocyte" "chitotriosidase deficiency"@en + "eosinophilic myelocyte" "level of RING finger protein 141 in blood serum" "AN1-type zinc finger protein 3" "HPL1E" @@ -7504,20 +7504,20 @@ "epithelial cell of thymus" "GM17137" "obsolete_carnosinemia" - "level of Kazal-type serine protease inhibitor domain-containing protein 1 in blood" "sexual behavior" + "level of Kazal-type serine protease inhibitor domain-containing protein 1 in blood" "HCC827" "SW48" "Burkholderia cepacia" "hypotonia, infantile, with psychomotor retardation and characteristic facies 1" "Myopathy with eye involvement" - "Autosomal recessive cerebellar ataxia - saccadic intrusion" "obsolete_epithalamus" "paracetamol" + "Autosomal recessive cerebellar ataxia - saccadic intrusion" "thymocyte nuclear protein 1 measurement" + "Tibial Adamantinoma" "CS57790" "nucleolar protein 16" - "Tibial Adamantinoma" "hereditary hemochromatosis type 1" "basal ganglia calcification, idiopathic, 8, autosomal recessive" "progressive muscular dystrophy" @@ -7600,8 +7600,8 @@ "obsolete congenital muscular dystrophy without intellectual disability" "style" "American"@en - "Narrow naris" "nongerminomatous germ cell tumor" + "Narrow naris" "partial duplication of the long arm of chromosome 17" "idiopathic central precocious puberty" "interferon lambda-2 measurement" @@ -7657,9 +7657,9 @@ "perceptual disorders" "Early-onset ataxia with dementia" "prealbumin measurement" + "Mantle cell lymphoma" "level of ketohexokinase in blood" "pollination" - "Mantle cell lymphoma" "concentration of large LDL particles measurement" "Ichthyosis - oral and digital anomalies" "obsolete_muscular lipidosis" @@ -7689,10 +7689,10 @@ "level of SH2 domain-containing adapter protein D in blood" "Cholecystitis" "Bazex-Dupré-Christol syndrome" - "Bardet-Biedl syndrome 1" "level of sorbin and SH3 domain-containing protein 1 in blood" "level of AP-2 complex subunit beta in blood" "familial expansile osteolysis" + "Bardet-Biedl syndrome 1" "Theiler stage 16" "obsolete syndromic hypothyroidism" "ribonuclease 4 measurement" @@ -7716,14 +7716,14 @@ "NKL"@en "level of SAFB-like transcription modulator in blood serum" "GTP-binding protein Di-Ras1" - "obsolete_proximal renal tubular acidosis" "craniofacial dysplasia - osteopenia syndrome" + "obsolete_proximal renal tubular acidosis" "type II hypersensitivity reaction disease" "level of codanin-1 in blood" "caudal duplication" - "Ankyloblepharon - ectodermal defects - cleft lip/palate" "protein jagged-2 measurement" "platelet glycoprotein 4 measurement" + "Ankyloblepharon - ectodermal defects - cleft lip/palate" "hereditary poikiloderma" "PDZ domain-containing protein 7" "level of cell cycle and apoptosis regulator protein 2 in blood" @@ -7748,8 +7748,8 @@ "octadecadienedioate (C18:2-DC) measurement" "C8161.9 cell" "EMG: neuropathic changes" - "level of semaphorin-4G in blood serum" "GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes" + "level of semaphorin-4G in blood serum" "CS57771" "Dihomo-linoleate (20:2n6)" "Increased bone mineral density" @@ -7760,8 +7760,8 @@ "HCC2185" "level of four and a half LIM domains protein 1 in blood serum" "centromere protein F" - "drosophila developmental stage" "Anilide use measurement" + "drosophila developmental stage" "Streptococcus thermophilus" "Modic type vertebral endplate changes" "mitochondrial fission 1 protein" @@ -7865,15 +7865,15 @@ "GTP-binding protein Di-Ras3" "low-density lipoprotein receptor class A domain-containing protein 4" "heart cancer" - "integral membrane protein 2C measurement" "skin disorder caused by infection" "urethral syndrome" "transcription factor HES-3" + "integral membrane protein 2C measurement" "level of von Willebrand factor A domain-containing protein 2 in blood serum" "syncytiotrophoblast" "level of 40S ribosomal protein S12 in blood serum" - "skeletal dysplasia, mild, with joint laxity and advanced bone age" "obsolete_mal de Meleda" + "skeletal dysplasia, mild, with joint laxity and advanced bone age" "lipomatous cancer" "Sertoli cell" "cerebral dopamine neurotrophic factor measurement" @@ -7888,8 +7888,8 @@ "acyl-coenzyme A thioesterase 8" "IgA memory B cell" "concentration of medium VLDL particles" - "level of alpha-actinin-1 in blood serum" "Premature ejaculation" + "level of alpha-actinin-1 in blood serum" "level of glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 in blood" "ubiquitin-conjugating enzyme E2 L3 measurement" "isolated growth hormone deficiency type IB" @@ -7898,9 +7898,9 @@ "level of 13-hydroxyoctadecadienoic acid in blood plasma" "level of EH domain-binding protein 1 in blood serum" "hereditary sensory and autonomic neuropathy with spastic paraplegia" - "obsolete_congenital unilateral hypoplasia of depressor anguli oris" "V-type proton ATPase subunit C 1" "level of spermatogenesis-associated protein 24 in blood serum" + "obsolete_congenital unilateral hypoplasia of depressor anguli oris" "soluble transferrin receptor measurement" "level of prominin-1 in blood serum" "all-trans-retinol dehydrogenase [NAD(+)] ADH1B" @@ -7923,8 +7923,8 @@ "transcription factor 24" "obsolete isolated diffuse palmoplantar keratoderma" "estrogen receptor status" - "glomuvenous malformation" "meninx" + "glomuvenous malformation" "Granuloma" "gastrula 50%-epiboly" "Aeromonas hydrophila infection" @@ -8042,9 +8042,9 @@ "nuclear factor NF-kappa-B p105 subunit" "carotid-femoral pulse wave velocity" "ubiquitin-conjugating enzyme E2 T measurement" + "level of ubiquitin-conjugating enzyme E2 E3 in blood serum" "sialic acid-binding Ig-like lectin 8" "fatty acid oxidation" - "level of ubiquitin-conjugating enzyme E2 E3 in blood serum" "eccrine sweat gland" "level of arginase-2, mitochondrial in blood" "transcription factor 4" @@ -8070,16 +8070,16 @@ "pleckstrin" "cholesterol to total lipids in medium LDL percentage " "carotid artery central pulse pressure measurement" - "Acute kidney injury" "microgram per gram body weight" + "Acute kidney injury" "MEC2" "cysticercosis" "trait in response to vancomycin" "chronic hip pain"@en "obsolete_UMUC3" - "3-hydroxyanthranilic acid measurement"@en "opportunistic mycosis" "otoraplin" + "3-hydroxyanthranilic acid measurement"@en "Drosophila developmental tissue" "isolated hereditary congenital facial paralysis" "symphalangism" @@ -8087,13 +8087,13 @@ "Eosinophilic Myelocyte Count" "matrix metalloproteinase 8 measurement" "W syndrome" - "triacylglycerol 49:1 measurement" "tissue factor measurement"@en "tonsillectomy risk measurement" + "triacylglycerol 49:1 measurement" "disease susceptibility" "postsynaptic density" - "tumor necrosis factor alpha-induced protein 8" "obsolete symbiotic process mediated by secreted substance" + "tumor necrosis factor alpha-induced protein 8" "Clinodactyly" "chromosome 10q23 deletion syndrome" "sperm-associated antigen 11A" @@ -8113,9 +8113,9 @@ "hematological toxicity" "acidic fibroblast growth factor intracellular-binding protein" "level of replication initiator 1 in blood serum" - "obsolete_partial deletion of the short arm of chromosome 6" "postpoliomyelitis syndrome" "level of tRNA wybutosine-synthesizing protein 5 in blood serum" + "obsolete_partial deletion of the short arm of chromosome 6" "dystonia 5" "thioredoxin-related transmembrane protein 1" "vascular disorder of penis" @@ -8137,8 +8137,8 @@ "cerebral cortex volume measurement"@en "infancy electroclinical syndrome" "urea transporter 2" - "LHCN-M2" "laryngeal tuberculosis" + "LHCN-M2" "adult central nervous system embryonal carcinoma" "RIL-seq" "obsolete_astrocytic tumor" @@ -8153,8 +8153,8 @@ "eicosapentaenoate EPA; 20:5n3 measurement" "disorder of carbohydrate transmembrane transport and absorption" "Paralysis, Obstetric" - "anterior thigh muscle fat infiltration measurement"@en "Bencze syndrome" + "anterior thigh muscle fat infiltration measurement"@en "acquired prothrombin deficiency" "NCI-H2195" "apolipoprotein A-V measurement" @@ -8220,10 +8220,10 @@ "level of zinc finger protein GLI2 in blood" "urinary bladder inverted papilloma" "pectoral girdle" - "Intestinal epithelial dysplasia" "myotonic dystrophy" - "obsolete_alternating hemiplegia" + "Intestinal epithelial dysplasia" "Fetal distress" + "obsolete_alternating hemiplegia" "3-hydroxyadipate measurement" "Worster-Drought syndrome" "amebic dysentery" @@ -8245,12 +8245,12 @@ "CS57644" "protocadherin beta-4 measurement" "Constitutional sideroblastic anemia" + "Hereditary cerebral hemorrhage with amyloidosis, Piedmont type" "obsolete_hereditary thrombocytopenia with normal platelets" "Xq25 microduplication syndrome" - "Hereditary cerebral hemorrhage with amyloidosis, Piedmont type" + "trombiculiasis" "level of beta-arrestin-1 in blood serum" "level of Phosphatidylinositol (18:0_20:4) in blood serum" - "trombiculiasis" "SUDHL1" "level of thymocyte nuclear protein 1 in blood serum" "radical prostatectomy"@en @@ -8348,13 +8348,13 @@ "obsolete_Stickler syndrome type 2" "obsolete_familial reactive perforating collagenosis" "obsolete_cibarium primordium" + "level of killer cell immunoglobulin-like receptor 3DL1 in blood serum" "metastatic malignant neoplasm in the colon" "oropharyngeal anthrax" - "level of killer cell immunoglobulin-like receptor 3DL1 in blood serum" "GM19025" "GTP-binding protein Di-Ras3 measurement" - "root epidermis" "ExSeq" + "root epidermis" "central nervous system organ benign neoplasm" "developmental and epileptic encephalopathy, 61" "RNA polymerase II subunit A C-terminal domain phosphatase SSU72" @@ -8438,9 +8438,9 @@ "level of carcinoembryonic antigen-related cell adhesion molecule 20 in blood serum" "level of talin rod domain-containing protein 1 in blood serum" "level of phospholipase A and acyltransferase 2 in blood serum" - "obsolete_progressive retinal dystrophy due to retinol transport defect" "hyperopia" "3-hydroxydecanoate measurement" + "obsolete_progressive retinal dystrophy due to retinol transport defect" "phosphatidylcholine diacyl C40:4 measurement" "osteocrin" "familial amyotrophic lateral sclerosis" @@ -8454,8 +8454,8 @@ "level of asporin in blood serum" "obsolete_cryptogenic late-onset epileptic spasms" "eicosenoyl sphingomyelin measurement" - "Premature eruption of permanent teeth" "2-stearoyl-GPE (18:0) measurement" + "Premature eruption of permanent teeth" "combined carcinoid and adenocarcinoma" "kynureninase measurement" "3-hydroxysebacate" @@ -8506,9 +8506,9 @@ "thyroid hormone metabolic process" "HCC3153" "cold-inducible RNA-binding protein" - "Borderline Ovarian Surface Epithelial-Stromal Tumor" "lateral cord glial cell" "obsolete autosomal recessive distal myopathy" + "Borderline Ovarian Surface Epithelial-Stromal Tumor" "vitamin D-dependent rickets, type 2" "nuclear pore complex protein Nup98-Nup96" "Streptococcus mutans" @@ -8574,8 +8574,8 @@ "intermediate severe Salla disease" "Caffey disease" "triglycerides to total lipids in large HDL percentage " - "46,XY partial gonadal dysgenesis" "mitochondrial complex I deficiency" + "46,XY partial gonadal dysgenesis" "level of transmembrane protein 106A in blood serum" "chromosome 17q12 duplication syndrome" "level of 40S ribosomal protein S14 in blood serum" @@ -8600,8 +8600,8 @@ "45,X/46,XY mixed gonadal dysgenesis" "Methanobacteria" "fatty acid-binding protein, epidermal measurement" - "3q27.3 microdeletion syndrome" "3P-Seq" + "3q27.3 microdeletion syndrome" "B10.NOD_H2g7_Idd3" "pelvic varices" "level of EH domain-containing protein 1 in blood serum" @@ -8630,10 +8630,10 @@ "protein kinase b alpha/beta/gamma measurement" "platelet glycoprotein VI measurement" "dourine" - "level of citron Rho-interacting kinase in blood" "skin disease caused by bacterial infection" "nephrogenic diabetes insipidus" "ADP-sugar pyrophosphatase" + "level of citron Rho-interacting kinase in blood" "head kidney" "infantile osteopetrosis with neuroaxonal dysplasia" "leiomodin-1" @@ -8673,8 +8673,8 @@ "isolated hyperferritinemia" "campestanol" "response to bronchodilator" - "congenital sucrase-isomaltase deficiency without sucrose intolerance" "Ovarian Sclerosing Stromal Tumor" + "congenital sucrase-isomaltase deficiency without sucrose intolerance" "Solanum pimpinellifolium" "level of nucleosome assembly protein 1-like 1 in blood serum" "Actinobacillus infectious disease" @@ -8812,12 +8812,12 @@ "signal-regulatory protein gamma measurement" "obsolete_SSR4-CDG" "Pili torti - onychodysplasia" - "ubiquitin-like modifier-activating enzyme ATG7 measurement" "metabolite measurement" - "C-C motif chemokine 13 measurement" + "ubiquitin-like modifier-activating enzyme ATG7 measurement" "3-hydroxyphenylacetic acid measurement"@en "level of Diacylglycerol (16:0_18:1) in blood serum" "Drosophila component" + "C-C motif chemokine 13 measurement" "Estimated Platelets Measurement" "nuclear nucleic acid-binding protein C1D" "obsolete_response to paliperidone" @@ -8840,13 +8840,13 @@ "sodium-independent sulfate anion transporter" "cholesterol to total lipids in medium VLDL percentage " "hepatotoxicity" + "obsolete_mevalonic aciduria" "dietary vitamin B1 intake measurement" "progressive multifocal leukoencephalopathy" "alanyl-tRNA editing protein Aarsd1" "level of DnaJ homolog subfamily C member 18 in blood serum" - "obsolete_mevalonic aciduria" - "nucleus accumbens-associated protein 1" "levulinate 4-oxovalerate measurement" + "nucleus accumbens-associated protein 1" "protein disulfide-isomerase TXNDC10" "progressive pseudorheumatoid arthropathy of childhood" "obsolete_fructose-1,6-bisphosphatase deficiency" @@ -8856,8 +8856,8 @@ "T4b tumor stage" "lethal occipital encephalocele-skeletal dysplasia syndrome" "obsolete_narcolepsy with cataplexy" - "Bromus inermis" "Xeroderma pigmentosum complementation group A" + "Bromus inermis" "chronic shoulder pain"@en "L-Asparagine anhydrous measurement" "level of sphingomyelin phosphodiesterase in blood" @@ -8872,9 +8872,9 @@ "small intestine neuroendocrine tumor, well differentiated, low or intermediate grade" "obsolete interaction with host via secreted substance" "childhood electroclinical syndrome" - "obsolete_partial deletion of the short arm of chromosome 2" "sperm-associated antigen 11B" "obsolete Heimler syndrome" + "obsolete_partial deletion of the short arm of chromosome 2" "OCI-LY3" "ABCA4-related retinopathy" "RNA-Seq" @@ -8935,8 +8935,8 @@ "NCI-H2228" "congenital diarrhea" "skin of pelvis" - "neurofilament heavy polypeptide measurement" "Receptive language delay" + "neurofilament heavy polypeptide measurement" "apolipoprotein F measurement" "junctional epidermolysis bullosa, non-Herlitz type" "obsolete_southeast Asian ovalocytosis" @@ -9053,8 +9053,8 @@ "GM19043" "obsolete disorder of lipid absorption and transport" "congenital stromal corneal dystrophy" - "oculoauriculovertebral spectrum with radial defects" "inherited macular dystrophy"@en + "oculoauriculovertebral spectrum with radial defects" "neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination" "trochanter" "Blepharophimosis - epicanthus inversus - ptosis due to a point mutation" @@ -9122,8 +9122,8 @@ "Ichthyosis - hepatosplenomegaly - cerebellar degeneration" "leukocyte adhesion deficiency 3" "ribonucleoside-diphosphate reductase subunit M2 B" - "peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome" "streptococcus pneumoniae discitis" + "peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome" "urothelial papilloma" "DNA-binding protein RFX5" "RECON progeroid syndrome" @@ -9134,8 +9134,8 @@ "Increased susceptibility to fractures" "neural cell adhesion molecule 2 measurement" "obsolete_familial thoracic aortic aneurysm and aortic dissection" - "level of elongin-B in blood" "obsolete isolated punctate palmoplantar keratoderma" + "level of elongin-B in blood" "GM17179" "craniofacial anomalies and anterior segment dysgenesis syndrome" "obsolete slender bone dysplasia" @@ -9144,19 +9144,19 @@ "HERV-H LTR-associating protein 2 measurement" "CDK-activating kinase assembly factor MAT1" "1-linoleoylglycerol (18:2) measurement" + "obsolete_congenital contractural arachnodactyly" "phosphatidylcholine diacyl C40:5 measurement" "benzoate measurement" - "obsolete_congenital contractural arachnodactyly" + "tropical spastic paraparesis" "level of arylsulfatase K in blood serum" "level of Phosphatidylinositol (18:1_18:1) in blood serum" - "tropical spastic paraparesis" "Theiler stage 19" - "level of progonadoliberin-2 in blood serum" "level of sperm equatorial segment protein 1 in blood" - "prominin-1" + "level of progonadoliberin-2 in blood serum" "level of amyloid beta precursor like protein 1 in blood" - "level of nucleolysin TIAR in blood serum" + "prominin-1" "level of tether containing UBX domain for GLUT4 in blood serum" + "level of nucleolysin TIAR in blood serum" "level of transcription cofactor vestigial-like protein 4 in blood serum" "cornea squamous cell carcinoma" "level of sulfotransferase 4A1 in blood serum" @@ -9195,10 +9195,10 @@ "level of mesoderm development candidate 2 in blood serum" "level of phosphatidylinositol" "level of phospholipase A and acyltransferase 3 in blood serum" + "Palpitations" "Geospiza conirostris" "strabismus, susceptibility to" "GM14478" - "Palpitations" "Neutrophilic Metamyelocyte Count" "Ovarian Transitional Cell Carcinoma" "obsolete Y chromosome number anomaly" @@ -9209,12 +9209,12 @@ "sporadic amyotrophic lateral sclerosis" "N-acetyl-2-aminooctanoate measurement" "ureter benign neoplasm" - "obsolete_LAMB2-related infantile-onset nephrotic syndrome" "infective vaginitis" "carcinoma ex pleomorphic adenoma" "CL1-0 cell" - "obsolete_hypothyroidism due to deficient transcription factors involved in pituitary development or function" + "obsolete_LAMB2-related infantile-onset nephrotic syndrome" "retinal cell" + "obsolete_hypothyroidism due to deficient transcription factors involved in pituitary development or function" "Camptodactyly" "right aortic arch" "ichthyosiform erythroderma, corneal involvement, and hearing loss" @@ -9386,15 +9386,15 @@ "obsolete_alobar holoprosencephaly" "protein kinase c alpha type measurement" "level of nucleosome assembly protein 1-like 2 in blood serum" - "dracunculiasis" "hypogonadotropic hypogonadism-frontoparietal alopecia syndrome" - "level of glutamate receptor ionotropic, kainate 2 in blood serum" + "dracunculiasis" "fructose-2,6-bisphosphatase TIGAR" "PARC syndrome" "testis-specific serine/threonine-protein kinase 1" + "level of glutamate receptor ionotropic, kainate 2 in blood serum" "leiomodin-2" - "Ferroglobus placidus" "Ras-related protein Rab-43" + "Ferroglobus placidus" "C38:7 phosphatidylethanolamine plasmalogen measurement" "Erysipelothrix rhusiopathiae infectious disease" "terminal transverse defects of arm" @@ -9447,8 +9447,8 @@ "level of thioredoxin-like protein 1 in blood" "level of unique cartilage matrix-associated protein in blood serum" "obsolete_congenital myopathy with internal nuclei and atypical cores" - "obsolete_aortic arch" "X-11497 measurement" + "obsolete_aortic arch" "obsolete_aromatase deficiency" "white matter integrity" "Lactobacillus sanfranciscensis" @@ -9477,9 +9477,9 @@ "organophosphate metabolic process" "obsolete_supranuclear palsy, progressive" "smooth muscle cell derived cell line" - "obsolete_short stature due to growth hormone qualitative anomaly" "obsolete_neonatal intrahepatic cholestasis due to citrin deficiency" "pulmonary hypertension, primary, 2" + "obsolete_short stature due to growth hormone qualitative anomaly" "obsolete_congenital disorder of glycosylation-related bone disorder" "Multiple congenital anomalies-hypotonia-seizures syndrome type 2" "hemoglobin subunit zeta measurement" @@ -9495,15 +9495,15 @@ "autosomal dominant cerebellar ataxia type II" "Splenogonadal fusion - limb defects - micrognathia" "total lipids in lipoprotein particles measurement " + "obsolete_metaphyseal anadysplasia" "clinical ideal cardiovascular health" "Geranium dissectum" - "obsolete_metaphyseal anadysplasia" "diphthine methyl ester synthase" "partial duplication of the short arm of chromosome 19" "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency" "RNA binding protein fox-1 homolog 1" - "obsolete_odonto-onycho-dermal dysplasia" "response to ximelagatran" + "obsolete_odonto-onycho-dermal dysplasia" "hemangioma of gingiva" "synpolydactyly type 1" "X-linked diffuse leiomyomatosis - Alport syndrome" @@ -9560,15 +9560,15 @@ "chenodeoxycholate measurement"@en "Phenylalanine-d8" "obsolete syndromic urogenital tract malformation" + "Hereditary cerebral hemorrhage with amyloidosis, Italian type" "Craniofrontonasal dysplasia" "corpus collosum mid-posterior volume measurement"@en "level of C-X-C motif chemokine 17 in blood serum" - "Hereditary cerebral hemorrhage with amyloidosis, Italian type" "Pili torti - developmental delay - neurological abnormalities" "C-C motif chemokine 22 measurement" "3-methyladipic acid measurement"@en - "Cercocebus atys" "Immature Plasma Cell Count" + "Cercocebus atys" "Felty's syndrome" "WIDR" "Kohlschutter-Tonz syndrome-like" @@ -9616,10 +9616,10 @@ "Iridovirus" "obsolete_fucosidosis" "obsolete_X-linked non-syndromic sensorineural deafness type DFN" - "obsolete_acrogeria" "zona pellucida sperm-binding protein 4 measurement" "Tis" "familial temporal lobe epilepsy 5" + "obsolete_acrogeria" "nuclear receptor coactivator 7" "heterogeneous nuclear ribonucleoprotein D-like" "ACPA-positive rheumatoid arthritis" @@ -9660,8 +9660,8 @@ "level of Kunitz-type protease inhibitor 3 in blood serum" "Peliosis Hepatis" "Arthroderma benhamiae" - "NCI-H226" "waist height ratio" + "NCI-H226" "X-16580 measurement" "obsolete_pharynx structure" "bladder urothelial papilloma" @@ -9686,8 +9686,8 @@ "Early infantile epileptic encephalopathy without suppression burst" "level of follistatin-related protein 4 in blood serum" "obsolete disorder of genitourinary system" - "tRNA wybutosine-synthesizing protein 5" "R-warfarin measurement" + "tRNA wybutosine-synthesizing protein 5" "acroosteolysis-keloid-like lesions-premature aging syndrome" "biliary tree" "Rap guanine nucleotide exchange factor 1" @@ -9702,8 +9702,8 @@ "level of Fc receptor-like B in blood" "skin of abdomen" "inferior myocardial infarction" - "neuroligin-1 measurement" "Intellectual disability, severe" + "neuroligin-1 measurement" "celastrol" "Congenital dyserythropoietic anemia type I" "level of enoyl-CoA Delta isomerase 1, mitochondrial in blood serum" @@ -9777,9 +9777,9 @@ "4-methylhexanoylglutamine measurement" "reproductive system cell" "CS57807" + "Tracheal Carcinoma" "Charcot-Marie-Tooth disease axonal type 2C" "phenol red" - "Tracheal Carcinoma" "Ly-76 high positive erythrocyte" "protein canopy homolog 4" "contact dermatitis" @@ -9920,8 +9920,8 @@ "Cafeteria roenbergensis" "aminopeptidase N" "level of L-asparaginase in blood serum" - "sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0) measurement" "obsolete_MEDNIK syndrome" + "sphingomyelin (d17:1/16:0, d18:1/15:0, d16:1/17:0) measurement" "thiamine transport" "level of sulfite oxidase, mitochondrial in blood" "NCI-H69" @@ -9959,9 +9959,9 @@ "adenylosuccinate synthetase isozyme 2 measurement" "nervous system cancer" "level of sphingomyelin" + "Ovarian Tumor of the Thecoma/Fibroma Group" "nephronophthisis 3" "short stature-wormian bones-dextrocardia syndrome" - "Ovarian Tumor of the Thecoma/Fibroma Group" "Neutrophilic Myelocyte Count" "Janus kinase and microtubule-interacting protein 3" "Flattened epiphysis" @@ -9984,8 +9984,8 @@ "filaggrin gene expression measurement"@en "meningococcal meningitis" "renal tuberculosis" - "Autosomal recessive dopa-responsive dystonia" "fibroblastic disorder" + "Autosomal recessive dopa-responsive dystonia" "Boran cattle" "memory B cell" "level of dual specificity protein phosphatase 3 in blood" @@ -9994,8 +9994,8 @@ "Humero-radial synostosis" "milliliter per liter" "level of proline-serine-threonine phosphatase-interacting protein 2 in blood" - "midline glial cell" "Malignant Germ Cell Tumor" + "midline glial cell" "fas apoptotic inhibitory molecule 3 measurement" "glycogen storage disease XV" "lysophosphatidylcholine 16:0 measurement"@en @@ -10133,8 +10133,8 @@ "obsolete_16p11.2p12.2 microduplication syndrome" "MORN repeat-containing protein 4" "smooth surface dental caries" - "level of polyunsaturated fatty acid lipoxygenase ALOX15B in blood serum" "sepal" + "level of polyunsaturated fatty acid lipoxygenase ALOX15B in blood serum" "obsolete_hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency" "hereditary spastic paraplegia 23" "vitamin D dietary intake measurement" @@ -10165,8 +10165,8 @@ "obsolete_glycerol kinase deficiency, juvenile form" "bronchial smooth muscle cell derived cell line" "level of beta-ureidopropionase in blood serum" - "obsolete_central polydactyly of fingers, bilateral" "C-type lectin domain family 2 member B measurement" + "obsolete_central polydactyly of fingers, bilateral" "nasal cavity" "Apis dorsata" "calcyclin-binding protein" @@ -10215,8 +10215,8 @@ "zinc finger protein 382" "E3 ubiquitin ligase TRAF3IP2" "Posterior fusion of lumbosacral vertebrae - blepharoptosis" - "clinical and behavioural ideal cardiovascular health" "hydantoin-5-propionic acid" + "clinical and behavioural ideal cardiovascular health" "eccrine carcinoma" "obsolete_cheirospondyloenchondromatosis" "level of glutamate receptor ionotropic, NMDA 2B in blood" @@ -10290,16 +10290,16 @@ "Autosomal dominant hyper-IgE syndrome" "OCI-M1" "C-type lectin domain family 4 member D measurement" - "hypoplastic left heart syndrome 1" "adenosquamous breast carcinoma" + "hypoplastic left heart syndrome 1" "acquired coagulation factor deficiency" "obsolete_vertical myoseptum" "CREB-binding protein measurement" "obsolete_CAMOS syndrome" "level of urocortin-3 in blood serum" "level of disheveled-associated activator of morphogenesis 1 in blood" - "protein FAM50A" "dystonia 21" + "protein FAM50A" "obsolete organonitrogen compound metabolic process" "disease" "protein-tyrosine sulfotransferase 1" @@ -10321,9 +10321,9 @@ "hyper-IgM syndrome type 5" "atorvastatin" "769P" - "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2P" "level of serine/threonine-protein phosphatase 2A 65 kDa regulatory subunit A alpha isoform in blood serum" "Hsc70-interacting protein" + "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2P" "obsolete_thanatophoric dysplasia type 2" "pallidum volume" "prostate-associated microseminoprotein measurement" @@ -10461,9 +10461,9 @@ "ovarian mucinous neoplasm" "Fc receptor-like protein 6" "E3 ubiquitin-protein ligase RNF34 measurement" + "X-16938 measurement" "pseudorabies" "DNA dC->dU-editing enzyme APOBEC-3G" - "X-16938 measurement" "8-(3-chlorostyryl)caffeine" "adipose tissue derived mesenchymal stem cell" "respiratory gaseous exchange by respiratory system" @@ -10646,10 +10646,10 @@ "middle ear cancer" "obsolete_macrocephaly-autism syndrome" "obsolete_Von Willebrand disease type 3" + "Sclerodermatomyositis" "Ovarian Yolk Sac Tumor" "Waardenburg syndrome, IIa 2F" "limb bone" - "Sclerodermatomyositis" "obsolete_type I diabetes mellitus" "obsolete_ataxia neuropathy spectrum" "primary hyperoxaluria" @@ -10662,8 +10662,8 @@ "NCI-H716" "left ventricular diastolic function measurement" "obsolete_fleck corneal dystrophy" - "obsolete_syndromic keratoconus" "appendix neuroendocrine neoplasm" + "obsolete_syndromic keratoconus" "obsolete_posttemporal" "essential strabismus" "obsolete Chitotriosidase deficiency" @@ -10677,8 +10677,8 @@ "obsolete_benign concentric annular macular dystrophy" "respiratory aspiration" "Melampsora larici-populina" - "mesenchymal chondrosarcoma" "level of catechol O-methyltransferase in blood serum" + "mesenchymal chondrosarcoma" "level of pregnancy-specific beta-1-glycoprotein 8 in blood serum" "casein kinase II 2-alpha:2-beta heterotetramer measurement" "Micro syndrome" @@ -10760,9 +10760,9 @@ "renal sinus adipose tissue measurement" "Fused teeth" "disks large homolog 3 measurement" + "small intestine neoplasm" "axin-1 measurement" "Plasma Cell Count" - "small intestine neoplasm" "solar lentigines measurement" "Hyperglycemia" "premature ovarian failure 19" @@ -10796,16 +10796,16 @@ "obsolete_congenital tracheal stenosis" "decubitus ulcer" "obsolete_hereditary glaucoma" - "Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder" "corpus callosum agenesis-abnormal genitalia syndrome" "hypogonadotropic hypogonadism-retinitis pigmentosa syndrome" + "Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder" "Ebola hemorrhagic fever" "tanespimycin" "obsolete_posterior lateral mesoderm" "cholesteryl ester 24:0 measurement" "level of tRNA (guanine-N(7)-)-methyltransferase in blood serum" - "L-Lysine measurement" "bicalutamide" + "L-Lysine measurement" "level of triglyceride" "Distal renal tubular acidosis with anemia" "dermatophytosis of scalp or beard" @@ -10846,8 +10846,8 @@ "petal" "chronic gastritis" "hereditary spastic paraplegia 5A" - "obsolete_aspartylglucosaminuria" "beta-arrestin-1" + "obsolete_aspartylglucosaminuria" "obsolete_coronory artery calcification" "tyrosol 4-sulfate measurement" "total parenteral nutrition" @@ -10930,10 +10930,10 @@ "classical monocyte" "obsolete_X-linked intellectual disability due to GRIA3 anomalies" "level of nuclear receptor ROR-gamma in blood serum" - "obsolete_secondary polycythemia" "A673" "level of protein lin-7 homolog A in blood serum" "level of EH domain-containing protein 4 in blood serum" + "obsolete_secondary polycythemia" "bone tissue" "acquired lactic acidosis" "respiratory process" @@ -10954,8 +10954,8 @@ "TF1 cell" "Glycogen storage disease due to phosphoglucomutase deficiency" "sepiapterin reductase measurement" - "obsolete_Johanson-Blizzard syndrome" "autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis" + "obsolete_Johanson-Blizzard syndrome" "obsolete_high anorectal malformation" "C-type lectin domain family 6 member A measurement" "GM17758" @@ -11075,9 +11075,9 @@ "level of perilipin-3 in blood" "reticulon-4 receptor measurement" "glutarylcarnitine (C5-DC) measurement" + "obsolete_hereditary pheochromocytoma-paraganglioma" "parental genotype effect measurement" "Charcot-Marie-Tooth disease type 4K" - "obsolete_hereditary pheochromocytoma-paraganglioma" "chin morphology measurement" "cytospin-B" "complement C1q subcomponent subunit A" @@ -11131,24 +11131,24 @@ "obsolete_benign Samaritan congenital myopathy" "pharyngeal squamous cell carcinoma" "level of endophilin-B1 in blood serum" - "level of cell surface hyaluronidase in blood" "X-linked intellectual disability - cardiomegaly - congestive heart failure" + "level of cell surface hyaluronidase in blood" "monoblast" "perinatal jaundice due to hepatocellular damage" "glypican-2 measurement" "insulin secretion measurement" "Streptococcus sp. 'group A'" "obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome" - "tyrosinemia type III" "short stature, oligodontia, dysmorphic facies, and motor delay" + "tyrosinemia type III" "phosphoenolpyruvate carboxykinase deficiency" "motor peripheral neuropathy" "ring chromosome 9" "obsolete_intercostal muscle" "glycoursodeoxycholic acid sulfate (1) measurement" "obsolete_head mesoderm" - "level of INO80 complex subunit E in blood serum" "Alkuraya-Kucinskas syndrome" + "level of INO80 complex subunit E in blood serum" "Wilms tumor" "FAO" "ventricular rate measurement" @@ -11190,8 +11190,8 @@ "acute myeloid leukemia, Monosomy 5" "Müllerian aplasia" "obsolete_hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation" - "lysophosphatidylethanolamine 18:0 measurement"@en "Bartter disease type 3" + "lysophosphatidylethanolamine 18:0 measurement"@en "level of epididymal secretory protein E3-beta in blood serum" "susceptibility to chickenpox measurement" "sodium channel subunit beta-2 measurement" @@ -11216,9 +11216,9 @@ "familial partial lipodystrophy" "level of 2-hydroxyacyl-CoA lyase 1 in blood serum" "Peptic ulcer perforation" + "metronidazole measurement" "obsolete_Huntington's disease" "NCI-H2347" - "metronidazole measurement" "Tc17 cell" "gist882" "spinal muscular atrophy with congenital bone fractures 1" @@ -11243,8 +11243,8 @@ "trophoblast glycoprotein-like" "hair follicle dermal papilla cell" "fibroblast growth factor 7 measurement" - "1-nonadecanoyl-GPC (19:0) measurement" "gamma-tocopherol" + "1-nonadecanoyl-GPC (19:0) measurement" "PHGDH deficiency" "SW1088" "renal artery disease" @@ -11348,8 +11348,8 @@ "lacrimal gland adenocarcinoma" "putative uncharacterized protein TXNRD3NB" "benign neoplasm of heart" - "episodic ataxia type 2" "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2I" + "episodic ataxia type 2" "obsolete_Monosomy 13q14" "fetal genotype effect measurement" "acute laryngitis" @@ -11383,9 +11383,9 @@ "picomole" "trophoblastic neoplasm" "amitriptyline" - "response to supplemental oxygen" "ovarian neoplasm" "Elevated circulating C-reactive protein concentration" + "response to supplemental oxygen" "homogentisate 1,2-dioxygenase measurement" "Cloverleaf skull - multiple congenital anomalies" "25-hydroxyvitamin D2" @@ -11454,6 +11454,7 @@ "level of methyltransferase-like protein 11A in blood serum" "DNA dC->dU-editing enzyme APOBEC-3G measurement" "electroneutral sodium bicarbonate exchanger 1" + "phosphatidylcholine diacyl C42:1 measurement" "caspase-8 measurement" "level of protein S100-A8 in blood serum" "Precursor Plasma Cell Count" @@ -11461,7 +11462,6 @@ "non-infectious anterior uveitis" "Porphyromonas gingivalis" "blistering, acantholytic, of oral and laryngeal mucosa" - "phosphatidylcholine diacyl C42:1 measurement" "level of interferon alpha-1/13 in blood serum" "2-hydroxyacetaminophen sulfate measurement" "Pro-Hyp" @@ -11499,9 +11499,9 @@ "linoleoyl-arachidonoyl-glycerol (18:2/20:4) [2] measurement" "macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss" "level of chordin in blood serum" - "tepal" "level of DNA-directed RNA polymerase III subunit RPC9 in blood serum" "level of intestinal alkaline phosphatase in blood serum" + "tepal" "Noccaea caerulescens" "GM19099" "chronic eustachian salpingitis" @@ -11582,8 +11582,8 @@ "tumor necrosis factor receptor II measurement" "morning glory syndrome" "lysophosphatidylethanolamine" - "ependymal tumor of spinal cord" "obsolete_atypical hemolytic-uremic syndrome with anti-factor H antibodies" + "ependymal tumor of spinal cord" "blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome" "fibroblast growth factor 10 measurement" "MOGS-congenital disorder of glycosylation" @@ -11615,10 +11615,10 @@ "obsolete_epispadias" "hindlimb stylopod" "chronic acquired demyelinating polyneuropathy" + "cholesteryl ester 24:1 measurement" "vulva sarcoma" "Ras-related protein Rab-5A" "level of PDZ domain-containing protein GIPC2 in blood serum" - "cholesteryl ester 24:1 measurement" "Mseek" "Progressive supranuclear palsy - corticobasal syndrome" "apolipoprotein L3" @@ -11661,9 +11661,9 @@ "parasympathetic paraganglioma" "obsolete_Johnson neuroectodermal syndrome" "C-type lectin domain family 7 member A measurement" - "obsolete_epihyal" "macrosialin" "level of RAC-alpha serine/threonine-protein kinase in blood serum" + "obsolete_epihyal" "Salmonella enterica subsp. enterica serovar Choleraesuis" "2-methylserine measurement" "ubiquitin carboxyl-terminal hydrolase BAP1" @@ -11705,12 +11705,12 @@ "swine influenza" "benign neoplasm of submandibular gland" "obsolete_amelia of lower limb" + "Caldicellulosiruptor lactoaceticus" "otopalatodigital syndrome type 2" "intrahepatic bile duct cystadenoma" "obsolete_thyroid" "CTP synthase 1" "self vs self design" - "Caldicellulosiruptor lactoaceticus" "KH domain-containing RNA-binding protein QKI" "RERF-LC-KJ" "lung adenoid cystic carcinoma" @@ -11806,12 +11806,12 @@ "Dyschondrosteosis - nephritis" "spondylocostal dysostosis" "Unilateral renal dysplasia" - "early endosome antigen 1 measurement" "chloride intracellular channel protein 5 measurement" "nephrotoxicity" "childhood testicular germ cell tumor" "obsolete_hereditary genetic disorder" "smoking status measurement" + "early endosome antigen 1 measurement" "ATP-binding cassette sub-family F member 3" "urinary tract smooth muscle contraction" "restrictive cardiomyopathy" @@ -12065,8 +12065,8 @@ "obsolete_abdominal aorta" "N-formylmethionine measurement" "spastic ataxia 1" - "Mv1Lu" "L-Histidine to Uric acid ratio" + "Mv1Lu" "pleomorphic rhabdomyosarcoma" "obsolete_lymphatic system" "obsolete_lethal Kniest-like dysplasia" @@ -12090,10 +12090,10 @@ "femtomole" "tooth and nail syndrome" "choroidal dystrophy, central areolar 2" + "lung disease associated with cystic fibrosis" "LP.04 four leaves visible stage" "POLR3-related leukodystrophy" "acne" - "lung disease associated with cystic fibrosis" "level of pituitary adenylate cyclase-activating polypeptide type I receptor in blood" "myosin regulatory light chain 12B" "cholesteryl ester" @@ -12112,8 +12112,8 @@ "Short 5th metacarpal" "Anemia, Hemolytic, Autoimmune" "G84" - "acrosomal protein SP-10" "SAM pointed domain-containing Ets transcription factor" + "acrosomal protein SP-10" "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" "brain stem infarction" "localised cicatricial pemphigoid" @@ -12145,8 +12145,8 @@ "thiopurine methyltransferase activity measurement" "phosphatidylcholine diacyl C42:2 measurement" "2-methoxyacetaminophen sulfate measurement" - "level of Golgi phosphoprotein 3-like in blood serum" "Illumina Genome Analyzer IIx" + "level of Golgi phosphoprotein 3-like in blood serum" "polidocanol" "Ras-related protein Rab-2A" "angle-closure glaucoma" @@ -12171,10 +12171,10 @@ "vesicle-associated membrane protein 3 measurement" "meningitis caused by poliovirus" "obsolete_posterior lateral plate mesoderm" - "Vigna unguiculata subsp. unguiculata" "level of X antigen family member 2 in blood serum" - "Hydroureter" + "Vigna unguiculata subsp. unguiculata" "gallbladder lymphoma" + "Hydroureter" "hyperplasia" "level of tRNA N(3)-methylcytidine methyltransferase METTL2B in blood serum" "pharyngeal pouches 2-6" @@ -12191,13 +12191,13 @@ "obsolete_familial isolated clinodactyly of fingers" "calcium-regulated heat stable protein 1 measurement" "Parse Biosciences technology"@en - "Appendicular hypotonia" "ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome" + "Appendicular hypotonia" "myelin sheath" "MOLT-4" - "left ventricular systolic function measurement" "NCI-H747" "X-linked calvarial hyperostosis" + "left ventricular systolic function measurement" "cytochrome c oxidase assembly factor 3 homolog, mitochondrial measurement" "digestive system neuroendocrine neoplasm" "acyl-CoA-binding domain-containing protein 7" @@ -12211,15 +12211,15 @@ "orbit sarcoma" "testicular disease" "level of neurogenin-3 in blood serum" + "level of BTB/POZ domain-containing protein KCTD1 in blood serum" "Bandrowski's base" "asporin" - "level of BTB/POZ domain-containing protein KCTD1 in blood serum" "Synostosis - microcephaly - scoliosis" "obsolete_autosomal recessive primary microcephaly" "Fc receptor-like protein 5 measurement" "norrin" - "obsolete_Bencze syndrome" "intellectual disability-brachydactyly-Pierre Robin syndrome" + "obsolete_Bencze syndrome" "level of DnaJ homolog subfamily B member 6 in blood" "obsolete_Denys-Drash syndrome" "integrator complex subunit 3" @@ -12264,8 +12264,8 @@ "Malignant Mesothelioma" "epiplakin" "obsolete_ATR-X-related syndrome" - "response to interferon-beta" "Cubital Tunnel Syndrome" + "response to interferon-beta" "pro-neuregulin-3, membrane-bound isoform" "skin aging" "brain structure developmental tissue" @@ -12314,20 +12314,20 @@ "DNA excision repair protein ERCC-1 measurement" "keratosis follicularis-dwarfism-cerebral atrophy syndrome" "alcohol-induced mental disorder" - "lipoma of the rectum" "obsolete_juvenile polyposis of infancy" + "lipoma of the rectum" "Brachydactyly - long thumb" "erythroid neoplasm" "level of BTB/POZ domain-containing protein KCTD15 in blood serum" "microscopic colitis" "Early onset absence seizures" "Bowing of the long bones" - "blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome" "enterocele"@en + "blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome" "level of endothelial lipase in blood serum" + "level of EP300-interacting inhibitor of differentiation 3 in blood serum" "protein-tyrosine phosphatase mitochondrial 1" "multinodular goiter" - "level of EP300-interacting inhibitor of differentiation 3 in blood serum" "laryngotracheoesophageal cleft" "bronchoconstriction" "obsolete_partial deletion of chromosome 5" @@ -12429,8 +12429,8 @@ "oxoglutarate measurement" "soluble gp130 measurement"@en "catecholaminergic polymorphic ventricular tachycardia 4" - "peanut allergy measurement" "GM07056" + "peanut allergy measurement" "patellar tendinitis" "Scleroderma" "SLBS" @@ -12462,8 +12462,8 @@ "guttate psoriasis" "CTS (Concatenated Tag Sequencing)" "Anemia due to adenosine triphosphatase deficiency" - "cerebrospinal fluid clusterin measurement" "GM17801" + "cerebrospinal fluid clusterin measurement" "level of high mobility group protein B3 in blood serum" "phosphatidylcholine O-44:4" "anterior horn disorder" @@ -12509,14 +12509,14 @@ "mCT-seq" "transmembrane gamma-carboxyglutamic acid protein 1 measurement" "Rho guanine nucleotide exchange factor 1" - "Microblepharon - ablephara" "23132/87" "isolated congenital hypogonadotropic hypogonadism" + "Microblepharon - ablephara" "long term hematopoietic stem cell" "ACHN" + "obsolete_multiple epiphyseal dysplasia type 4" "sphingomyeline C16:1 measurement" "mitochondrial complex III deficiency" - "obsolete_multiple epiphyseal dysplasia type 4" "occular toxicity"@en "obsolete_Seckel syndrome" "obsolete_split hand, unilateral" @@ -12535,8 +12535,8 @@ "hair defect with photosensitivity and intellectual disability syndrome" "congenital hereditary facial paralysis-variable hearing loss syndrome" "lip disorder" - "obsolete_coloboma of choroid and retina" "histone H1.10" + "obsolete_coloboma of choroid and retina" "Abnormal morphology of left ventricular trabeculae" "level of glucose-induced degradation protein 8 homolog in blood serum" "severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency" @@ -12578,9 +12578,9 @@ "obsolete_desmosterolosis" "primary congenital hypothyroidism" "level of splicing factor ESS-2 homolog in blood serum" - "Maltose measurement" "acute disseminated encephalomyelitis" "calcineurin subunit B type 2" + "Maltose measurement" "atrial septal defect 7" "insulin secreting cell of pars intercerebralis" "ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant" @@ -12592,17 +12592,17 @@ "apparent mineralocorticoid excess syndrome" "autosomal recessive limb-girdle muscular dystrophy type 2I" "ubiquitin carboxyl-terminal hydrolase 4" - "obsolete_brachydactyly type A4" "obsolete_partial duplication of the long arm of chromosome 14" + "obsolete_brachydactyly type A4" "N-methylpipecolate measurement" "Illumina native qseq format" - "RERF-LC-MS" - "level of ribonuclease H2 subunit A in blood" "level of protein FAM221A in blood serum" + "level of ribonuclease H2 subunit A in blood" "GM17797" "software variation design" "probable RNA-binding protein 46" "glutaminyl-peptide cyclotransferase" + "RERF-LC-MS" "Pinus strobus" "obsolete_Acatalasemia" "response to cholinesterase inhibitor" @@ -12614,9 +12614,9 @@ "combined oxidative phosphorylation deficiency 48" "viral conjunctivitis" "tracheitis" + "positive regulation of gastric acid secretion" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" "polyp of middle ear" - "positive regulation of gastric acid secretion" "level of pancreatic lipase-related protein 2 in blood serum" "carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1" "gallbladder angiosarcoma" @@ -12658,13 +12658,13 @@ "guanosine measurement" "energy expenditure measurement" "retinol-binding protein 4 measurement" - "eukaryotic translation initiation factor 3 subunit G measurement" "tiglylcarnitine (C5:1-DC) measurement" "bleeding disorder, platelet-type, 24" "level of galectin-related protein in blood serum" "heme oxygenase 1 deficiency" "fructose 6-phosphate" "ring chromosome 16" + "eukaryotic translation initiation factor 3 subunit G measurement" "survival time" "verbal-numerical reasoning measurement" "translation initiation factor IF-3, mitochondrial" @@ -12702,12 +12702,12 @@ "level of Cas scaffolding protein family member 4 in blood serum" "obsolete_Distal monosomy 10q" "obsolete_X-linked intellectual disability, Brooks type" - "proteasome-associated autoinflammatory syndrome 3" "obsolete_bilateral parasagittal parieto-occipital polymicrogyria" "obsolete_frontal encephalocele" + "proteasome-associated autoinflammatory syndrome 3" + "Gastric Hamartomatous Polyp" "level of 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial in blood serum" "medial collateral ligament" - "Gastric Hamartomatous Polyp" "myelomeningocele" "juvenile idiopathic arthritis" "Escherichia coli O157:H7 str. EDL933" @@ -12844,19 +12844,19 @@ "diffuse midline glioma"@en "renal leiomyoma" "obsolete_WT limb-blood syndrome" - "obsolete_partial duplication of chromosome 4" "level of pro-neuregulin-2, membrane-bound isoform in blood serum" "splenic macrophage" - "level of scavenger receptor cysteine-rich domain-containing group B protein in blood" + "obsolete_partial duplication of chromosome 4" "level of MHC class I histocompatibility antigen C alpha chain in blood serum" + "level of scavenger receptor cysteine-rich domain-containing group B protein in blood" "childhood brain meningioma" "level of ADP-sugar pyrophosphatase in blood" "embryonic Malpighian tubule tip cell" "level of neutral amino acid transporter A in blood" "ATC Code P Antiparasitic products, insecticides and repellents" - "obsolete_spondylometaphyseal dysplasia, Schmidt type" "oleamide" "serous cystadenocarcinoma" + "obsolete_spondylometaphyseal dysplasia, Schmidt type" "level of kelch-like protein 41 in blood serum" "familial hyperaldosteronism type III" "Lassa virus Josiah" @@ -12906,10 +12906,10 @@ "4-deoxythreonic acid measurement" "calcium-binding and coiled-coil domain-containing protein 1" "Spina bifida occulta" - "obsolete_acromesomelic dysplasia" "jugular body" "X-14658 measurement" "parp inhibitor response" + "obsolete_acromesomelic dysplasia" "ADP-ribose pyrophosphatase, mitochondrial measurement" "kidney cell" "level of DNA-binding protein inhibitor ID-1 in blood serum" @@ -12993,8 +12993,8 @@ "obsolete_caudal ganglionic eminence" "vitamin E measurement" "level of procollagen C-endopeptidase enhancer 1 in blood serum" - "mitochondrial antiviral-signaling protein" "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome" + "mitochondrial antiviral-signaling protein" "obsolete_response to mercaptopurine" "protein phosphatase inhibitor 2" "neurodevelopmental disorder with speech delay and variable ocular anomalies" @@ -13038,12 +13038,12 @@ "Abnormal ciliary motility" "aortic valve disease" "Craniosynostosis - fibular aplasia" - "Kimura disease" "hydroxytetradecenoylcarnitine measurement" + "Kimura disease" "cholesteryl ester 24:5 measurement" - "growth arrest-specific protein 1 measurement" "colchicine" "HIV-1 infection" + "growth arrest-specific protein 1 measurement" "level of N6-adenosine-methyltransferase catalytic subunit in blood serum" "geleophysic dysplasia" "DNA polymerase eta measurement" @@ -13070,8 +13070,8 @@ "ATP-binding cassette sub-family A member 2" "parotitis" "von Willebrand disease 1" - "2,4,5-trichlorophenol measurement"@en "pulmonary artery strain measurement"@en + "2,4,5-trichlorophenol measurement"@en "level of signal-regulatory protein beta-1 in blood serum" "Wide anterior fontanel" "obsolete_primary congenital hypothyroidism" @@ -13106,8 +13106,8 @@ "X-24541 measurement" "otosalpingitis" "Ataxia with vitamin E deficiency" - "obsolete_genetic infertility" "spondyloepimetaphyseal dysplasia-abnormal dentition syndrome" + "obsolete_genetic infertility" "immunodeficiency 35" "acylphosphatase-1" "level of transcription factor Sp6 in blood serum" @@ -13241,8 +13241,8 @@ "obsolete_coloboma of eye lens" "acromesomelic dysplasia 3" "AA amyloidosis" - "PEO6" "serine protease inhibitor Kazal-type 13 measurement" + "PEO6" "UMI Method" "facioscapulohumeral muscular dystrophy 4, digenic" "spondylocostal dysostosis-hypospadias-intellectual disability syndrome" @@ -13309,8 +13309,8 @@ "concentration of chylomicrons and extremely large VLDL particles measurement " "9-HODE" "part per billion" - "obsolete generalized isolated dystonia" "level of regulator of G-protein signaling 4 in blood serum" + "obsolete generalized isolated dystonia" "cytotoxic T cell" "quinone oxidoreductase-like protein 1 measurement" "1-pentadecanoyl-GPC (15:0) measurement" @@ -13390,9 +13390,9 @@ "Short neck" "CKLF-like MARVEL transmembrane domain-containing protein 4" "inositol monophosphatase 1" - "level of (E)-isoheptadec-2-enoyl-CoA in blood serum" "follicular thyroid adenoma" "megalencephaly, autosomal dominant" + "level of (E)-isoheptadec-2-enoyl-CoA in blood serum" "GM17296" "VirCapSeq-VERT" "level of synapsin-3 in blood serum" @@ -13468,8 +13468,8 @@ "Brassica oleracea var. alboglabra" "large ribosomal subunit protein uL1m" "level of N-gondoylethanolamine in blood serum" - "anterior lateral line ganglion" "polyneuropathy" + "anterior lateral line ganglion" "WGA-X" "dihydropyrimidinase-related protein 1" "Calcium channel blocker use measurement" @@ -13477,9 +13477,9 @@ "Dowling-Degos disease" "level of zinc finger and BTB domain-containing protein 10 in blood serum" "Sphingomyelin (d18:2/16:0, d18:1/16:1) measurement" - "4-vinylphenol sulfate" "extragonadal teratoma" "neuropeptide Y" + "4-vinylphenol sulfate" "pellagra-like syndrome" "Agnathia - holoprosencephaly - situs inversus" "ribose" @@ -13642,10 +13642,10 @@ "obsolete_CEMC1" "benign neoplasm of retina" "NCI-H810" + "obsolete_posterior corneal dystrophy" "leukocyte immunoglobulin-like receptor subfamily B member 1 measurement" "obsolete_congenital enterocyte heparan sulfate deficiency" "5'-nucleotidase measurement" - "obsolete_posterior corneal dystrophy" "dorsal longitudinal anastomotic vessel" "obsolete congenital trochlear nerve palsy" "N,N-dimethylalanine measurement" @@ -13764,8 +13764,8 @@ "level of gastric inhibitory polypeptide in blood serum" "volumetric brain MRI" "DNA polymerase iota measurement" - "intracranial hemangioma" "level of procollagen C-endopeptidase enhancer 2 in blood serum" + "intracranial hemangioma" "mucinous cystadenofibroma" "protein max" "obsolete_dorsal metathoracic disc" @@ -13784,16 +13784,16 @@ "inflammatory poikiloderma with hair abnormalities and acral keratoses" "campesterol measurement"@en "4-Guanidinobutyric acid measurement" - "AIDS-Related Primary Central Nervous System Lymphoma" "uncharacterized protein KIAA2013" + "AIDS-Related Primary Central Nervous System Lymphoma" "blood 2,2'-Methylenebis(6-tert-butyl-p-cresol) measurement" "CC16 measurement" "level of cadherin-23 in blood serum" "HMEC184" "eukaryotic translation elongation factor 1 epsilon-1" "diabetes mellitus biomarker" - "potassium channel regulatory protein" "1-palmitoyl-GPE (16:0) measurement" + "potassium channel regulatory protein" "phosphatidylcholine 34:5 measurement" "Auriculoocular anomalies - cleft lip" "Rajab interstitial lung disease with brain calcifications 2" @@ -13815,9 +13815,9 @@ "obsolete_camptodactyly of fingers" "level of lithostathine-1-beta in blood serum" "lipocalin-1 measurement" + "10x 5' v3"@en "ichthyosis-intellectual disability-dwarfism-renal impairment syndrome" "coelomocyte" - "10x 5' v3"@en "HLA class II histocompatibility antigen, DQ alpha 2 chain measurement" "X-linked recessive hereditary axonal motor and sensory neuropathy" "cytochrome c oxidase subunit 6C measurement" @@ -13891,8 +13891,8 @@ "Ly49H-positive natural killer cell, mouse" "129S/SvEv"@en "antiphospholipid syndrome" - "lung cancer" "sialic acid-binding Ig-like lectin 10 measurement" + "lung cancer" "level of apolipoprotein C-I in blood serum" "G402" "raphe magnus" @@ -13975,13 +13975,13 @@ "Hypogonadism - mitral valve prolapse - intellectual disability" "sterol carrier protein 2 deficiency" "obsolete_aorta" - "obsolete_succinyl-CoA:3-ketoacid CoA transferase deficiency" "Coronary-Subclavian Steal Syndrome" "posterior pharyngeal sense organ primordium" - "palmitoyl-oleoyl-glycerol (16:0/18:1) [1] measurement" + "obsolete_succinyl-CoA:3-ketoacid CoA transferase deficiency" "MARDI" "animal viral hepatitis" "Salvelinus alpinus" + "palmitoyl-oleoyl-glycerol (16:0/18:1) [1] measurement" "Slamf1-positive multipotent progenitor cell" "CB185" "obsolete_Koolen-de Vries syndrome" @@ -14092,12 +14092,12 @@ "male reproductive organ cancer" "obsolete_Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency" "dysostosis, Stanescu type" - "Gastrointestinal angiodysplasia" "obsolete_mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis" - "optic rim area measurement" + "Gastrointestinal angiodysplasia" "protein arginine N-methyltransferase 3 measurement" - "chromosome 5Q14.3 deletion syndrome, distal" + "optic rim area measurement" "NS-0" + "chromosome 5Q14.3 deletion syndrome, distal" "primary familial polycythemia due to EPO receptor mutation" "polypeptide N-acetylgalactosaminyltransferase 1 measurement" "level of serine/threonine-protein kinase Sgk1 in blood serum" @@ -14127,10 +14127,10 @@ "level of mitotic checkpoint serine/threonine-protein kinase BUB1 in blood serum" "1-methylimidazoleacetate measurement" "prostate cancer staging" + "obsolete_Brugada syndrome" "MARS-seq" "visna" "level of carnosine N-methyltransferase in blood serum" - "obsolete_Brugada syndrome" "level of sarcolemmal membrane-associated protein in blood" "level of thymidine kinase 2, mitochondrial in blood serum" "Autosomal recessive spastic paraplegia type 55" @@ -14146,16 +14146,16 @@ "obsolete_pyruvate dehydrogenase E1-alpha deficiency" "pseudouridine measurement" "GM17791" - "H4" "erysipelas" + "H4" + "eukaryotic translation initiation factor 4B measurement" "pentose acid measurement" "hearing loss, autosomal dominant 80" "lysosomal cobalamin transporter ABCD4" "HCC193" "SW1353" - "5'(3')-deoxyribonucleotidase, mitochondrial" - "eukaryotic translation initiation factor 4B measurement" "MEL-HO" + "5'(3')-deoxyribonucleotidase, mitochondrial" "PDA1" "long QT syndrome 3" "otosclerosis" @@ -14313,8 +14313,9 @@ "level of angiopoietin-related protein 2 in blood" "Spontaneous pneumothorax" "surfeit locus protein 1 measurement" - "KPL1" "ephrin type-B receptor 2 measurement" + "KPL1" + "dye" "Abnormality of the liver" "S-acyl fatty acid synthase thioesterase, medium chain" "Y-box-binding protein 1" @@ -14331,8 +14332,8 @@ "obsolete_1p21.3 microdeletion syndrome" "aniridia-cerebellar ataxia-intellectual disability syndrome" "coxsackievirus seropositivity" - "neuroblastoma, susceptibility to, 1" "adult malignant hemangiopericytoma" + "neuroblastoma, susceptibility to, 1" "X-23780 measurement" "autoinflammation with episodic fever and lymphadenopathy" "chromosome 4 disorder" @@ -14514,9 +14515,9 @@ "coloboma of inferior eyelid" "central nervous system embryonal neoplasm"@en "familial atrial myxoma" - "obsolete_multiple congenital anomalies due to 14q32.2 maternally expressed gene defect" "infectious disease biomarker" "obsolete_conotruncal heart malformations" + "obsolete_multiple congenital anomalies due to 14q32.2 maternally expressed gene defect" "adactyly of foot, bilateral" "level of neurturin in blood" "level of mimecan in blood" @@ -14558,8 +14559,8 @@ "Macacine herpesvirus 3" "Cowden disease" "Ameloblastic Carcinoma" - "extrahepatic bile duct mucinous adenocarcinoma" "surfactant protein D measurement" + "extrahepatic bile duct mucinous adenocarcinoma" "obsolete_Machado-Joseph disease type 2" "level of cadherin-related family member 3 in blood serum" "serine/threonine-protein kinase 17B measurement" @@ -14586,8 +14587,8 @@ "palmitoleoyl-linoleoyl-glycerol (16:1/18:2) [1] measurement" "obsolete_bent bone dysplasia" "Congenital disorder of glycosylation with intestinal involvement" - "level of transmembrane protein 237 in blood serum" "X-24546 measurement" + "level of transmembrane protein 237 in blood serum" "obsolete_abdomen" "obsolete_childhood apraxia of speech" "phosphoenolpyruvate carboxykinase [GTP], mitochondrial" @@ -14675,9 +14676,9 @@ "serine--tRNA ligase, mitochondrial" "Steatocystoma multiplex - natal teeth" "obsolete_trisomy 4p" + "blood ethylparaben sulfate measurement" "ethylmalonate measurement"@en "level of bone morphogenetic protein 15 in blood serum" - "blood ethylparaben sulfate measurement" "4-Hydroxybenzaldehyde measurement" "carcinogenicity" "protocadherin gamma-A1" @@ -14713,8 +14714,8 @@ "HapMap haplotype mapping" "brain cortex volume measurement"@en "NG Capture-C" - "pharyngeal endoderm" "growth/differentiation factor 11 measurement" + "pharyngeal endoderm" "prefoldin subunit 4" "lateral dorsal aorta" "X-24556 measurement" @@ -14730,12 +14731,12 @@ "RT-112" "response to carboplatin" "Theiler stage 11" - "aldrin measurement"@en - "peanut allergic reaction" "1-methylnicotinamide measurement"@en + "peanut allergic reaction" "Neurodevelopmental disorder"@en "desmin" "colon lymphoma" + "aldrin measurement"@en "orofaciodigital syndrome" "E3 ubiquitin-protein ligase UHRF2" "GDM1" @@ -14777,9 +14778,9 @@ "famotidine" "hatipoglu immunodeficiency syndrome" "dihydropyrimidinuria" - "obsolete_occipital pachygyria and polymicrogyria" "partial duplication of the long arm of chromosome 10" "autosomal recessive ataxia due to PEX10 deficiency" + "obsolete_occipital pachygyria and polymicrogyria" "hypertensive encephalopathy" "ribose-phosphate pyrophosphokinase 2" "integrin alpha-V: beta-5 complex measurement" @@ -14788,10 +14789,10 @@ "acquired hemoglobinopathy" "mandibular cancer" "level of ubiquitin-conjugating enzyme E2 Q2 in blood serum" - "progressive cerebello-cerebral atrophy" "cup-to-disc ratio measurement" - "FVB"@en + "progressive cerebello-cerebral atrophy" "Ly49D-negative natural killer cell, mouse" + "FVB"@en "telencephalic ventricle" "simvastatin" "adenomyoma" @@ -14818,7 +14819,6 @@ "level of DNA/RNA-binding protein KIN17 in blood serum" "obsolete_subependymal nodular heterotopia" "hypersensitivity pneumonitis, familial" - "obsolete_hypophosphatasia" "X-12798-to-phenylalanine ratio" "MATQ-seq" "B cell derived cell line" @@ -14826,9 +14826,10 @@ "congenital hematological disorder" "level of protein MENT in blood serum" "oleoyl-oleoyl-glycerol (18:1/18:1) [2] measurement" + "obsolete_hypophosphatasia" + "level of serine/threonine-protein kinase tousled-like 1 in blood serum" "Autosomal recessive spastic paraplegia type 28" "B melanoma antigen 2 measurement" - "level of serine/threonine-protein kinase tousled-like 1 in blood serum" "vascular insufficiency disorder" "combined oxidative phosphorylation deficiency 49" "Abnormal mastoid morphology" @@ -14858,8 +14859,8 @@ "melanoma, cutaneous malignant, susceptibility to, 1" "response to methylphenidate" "level of synaptogyrin-3 in blood serum" - "obsolete_inherited epidermolysis bullosa" "Parkinson disease, mitochondrial" + "obsolete_inherited epidermolysis bullosa" "Primary lateral sclerosis" "level of protein FosB in blood" "Spondyloepimetaphyseal dysplasia" @@ -14869,9 +14870,9 @@ "short rib dysplasia" "benign tumor of palpebral epidermis" "Armfield syndrome" - "latent-transforming growth factor beta-binding protein 4 measurement" "Aptenodytes patagonicus" "level of hydroxymethylglutaryl-CoA synthase, mitochondrial in blood serum" + "latent-transforming growth factor beta-binding protein 4 measurement" "Carney complex - trismus - pseudocamptodactyly syndrome" "immunodeficiency 96" "Papillary Tumor of the Pineal Region" @@ -14937,8 +14938,8 @@ "melanoma-derived growth regulatory protein measurement" "encounter with health service related to reproduction" "obsolete_lysosomal storage disease with skeletal involvement" - "obsolete_bilateral frontal polymicrogyria" "aggrecan core protein measurement" + "obsolete_bilateral frontal polymicrogyria" "alpha-2A adrenergic receptor" "negative regulation of immune response" "granzyme h measurement" @@ -14948,9 +14949,9 @@ "retinal arterial tortuosity" "oligoastrocytic tumor" "abnormal vaginal discharge itching" + "adult-onset Still's disease" "autosomal recessive non-syndromic intellectual disability" "RKO" - "adult-onset Still's disease" "GM19240" "level of WAP four-disulfide core domain protein 3 in blood serum" "helicoid peripapillary chorioretinal degeneration" @@ -14980,8 +14981,8 @@ "continuous spikes and waves during sleep" "thymidine kinase, cytosolic measurement" "silver-Russell syndrome due to an imprinting defect of 11p15" - "Acute hepatic porphyria" "level of dynein axonemal intermediate chain 1 in blood serum" + "Acute hepatic porphyria" "obsolete_Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys" "level of phytanoyl-CoA hydroxylase-interacting protein-like in blood serum" "level of adipocyte plasma membrane-associated protein in blood serum" @@ -14998,8 +14999,8 @@ "G-rich sequence factor 1" "Benign Ovarian Surface Epithelial-Stromal Tumor" "GlcNAc sulfate conjugate of C21H34O2 steroid measurement" - "protein argonaute-1 measurement" "free cholesterol to total lipids in very large HDL percentage " + "protein argonaute-1 measurement" "Pelvic kidney" "epilepsy, idiopathic generalized, susceptibility to, 8" "McLeod neuroacanthocytosis syndrome" @@ -15052,11 +15053,11 @@ "neoplasm of minor salivary gland" "photoreceptor cell" "autosomal recessive optic atrophy" + "obsolete_stromal cell of lamina propria of large intestine" "protocadherin beta-2" "KU812" "aortic aneurysm" "estrogen receptor measurement" - "obsolete_stromal cell of lamina propria of large intestine" "atrophic thyroiditis" "GM17163" "noelin" @@ -15164,11 +15165,11 @@ "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" "acute salpingo-oophoritis" "precuneus cortex volume measurement"@en + "obsolete_glycogen storage disease due to lactate dehydrogenase M-subunit deficiency" "level of transcription intermediary factor 1-beta in blood serum" "leg" "peptidoglycan recognition protein 4" "substantia nigra and ventral tegmental area" - "obsolete_glycogen storage disease due to lactate dehydrogenase M-subunit deficiency" "emotional symptom measurement" "hypogonadotropic hypogonadism 5 with or without anosmia" "Mikati-Najjar-Sahli syndrome" @@ -15230,8 +15231,8 @@ "response to ustekinumab"@en "targeted mutation" "subependymal giant cell astrocytoma" - "2-oxoglutarate(2-)" "high content screen" + "2-oxoglutarate(2-)" "M6A-RIP" "stem cell derived cell line" "eccrine sweat gland neoplasm" @@ -15292,13 +15293,13 @@ "level of tetratricopeptide repeat protein 9A in blood serum" "obsolete_4-hydroxybutyric aciduria" "obsolete_mesomelic dwarfism, Nievergelt type" - "sulfate transporter-related osteochondrodysplasia"@en "immunoglobulin lambda-like polypeptide 1 measurement" + "sulfate transporter-related osteochondrodysplasia"@en "infantile-onset mesial temporal lobe epilepsy with severe cognitive regression" "benign neoplasm of neck" "obsolete_pharyngeal arch cartilage" - "hemK methyltransferase family member 2 measurement" "cis-4-decenoate (10:1n6) measurement" + "hemK methyltransferase family member 2 measurement" "60S acidic ribosomal protein P2 measurement" "ubiquitin carboxyl-terminal hydrolase CYLD" "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency" @@ -15400,18 +15401,18 @@ "obsolete_dentin dysplasia" "level of bone morphogenetic protein 3 in blood serum" "E3 ISG15--protein ligase HERC5" + "obsolete_congenital amegakaryocytic thrombocytopenia" "level of Xaa-Pro aminopeptidase 3 in blood serum" "gRNA-seq" "L-urobilin measurement" "level of tetraspanin-15 in blood" "transitional cell neoplasm" "Charcot-Marie-Tooth disease, dominant intermediate G" - "obsolete_congenital amegakaryocytic thrombocytopenia" "ectodermal dysplasia and immune deficiency" "Genetic urogenital tract malformation" "obsolete_fin bud" - "X-12712 measurement" "planned process" + "X-12712 measurement" "perilipin-1" "dystonia 16" "obsolete_Nijmegen breakage syndrome" @@ -15430,12 +15431,12 @@ "lichen nitidus" "cerebral sarcoma" "creatine" - "Hypogonadotropic hypogonadism - retinitis pigmentosa" "flavin-containing monooxygenase 3" "X-24571 measurement" - "central hearing loss" "receptor-type tyrosine-protein phosphatase mu" + "central hearing loss" "ChIP-chip by array" + "Hypogonadotropic hypogonadism - retinitis pigmentosa" "distal 7q11.23 microdeletion syndrome" "obsolete_free sialic acid storage disease" "childhood endodermal sinus tumor" @@ -15458,8 +15459,8 @@ "obsolete_central congenital hypothyroidism" "stomatin-like protein 1" "GPN-loop GTPase 1" - "high throughput sequence alignment protocol" "pro-glucagon" + "high throughput sequence alignment protocol" "Anophthalmia/microphthalmia - esophageal atresia" "dumping syndrome" "Reduced tendon reflexes" @@ -15495,8 +15496,8 @@ "Anopheles gambiae" "Theiler stage 17" "pregnancy-specific beta-1-glycoprotein 4 measurement" - "Snijders Blok-Campeau syndrome"@en "azinphos methyl measurement"@en + "Snijders Blok-Campeau syndrome"@en "UL16-binding protein 1" "A2058" "paraneoplastic antigen Ma2" @@ -15528,8 +15529,8 @@ "obsolete_sex chromosome disorder of sex development" "QRS-T angle"@en "RNA polymerase II elongation factor ELL3" - "oleoylcarnitine measurement" "Haemophilus influenzae" + "oleoylcarnitine measurement" "mature CD8_alpha-positive CD11b-negative dendritic cell" "Lumbar hyperlordosis" "level of killer cell immunoglobulin-like receptor 2DL1 in blood serum" @@ -15606,6 +15607,7 @@ "level of C-X-C motif chemokine 3 in blood serum" "HCC1599" "idiopathic scoliosis" + "Craniostenosis associated with a strabismus" "distal arthrogryposis type 2B1" "level of N-acyl-aromatic-L-amino acid amidohydrolase, carboxylate-forming in blood serum" "HCC4006" @@ -15613,7 +15615,6 @@ "level of PWWP domain-containing DNA repair factor 3A in blood serum" "MFM-223" "sick sinus syndrome 1" - "Craniostenosis associated with a strabismus" "obsolete_anorexia nervosa" "inherited dystonia" "obsolete_frontal lobe" @@ -15659,8 +15660,8 @@ "UPF0696 protein C11orf68" "HeLa-S3" "level of tubulin polymerization-promoting protein family member 2 in blood serum" - "response to trastuzumab" "O-succinylcarnitine" + "response to trastuzumab" "trans-4-hydroxy-L-proline" "inositol measurement"@en "neutropenia, severe congenital, 9, autosomal dominant" @@ -15786,8 +15787,8 @@ "selenate" "Spirochaetales Infections" "level of leucine-rich repeat and transmembrane domain-containing protein 1 in blood serum" - "lower lobe of right lung" "level of stathmin in blood serum" + "lower lobe of right lung" "exosome complex component RRP40 measurement" "exposure temperature" "central nervous system tuberculosis" @@ -15937,10 +15938,10 @@ "ectonucleotide pyrophosphatase/phosphodiesterase family member 7 measurement" "level of melanoma-associated antigen 4 in blood serum" "N-methylnicotinate" - "obsolete_punctate palmoplantar keratoderma" "perichondritis of auricle" "methionine" "Botrytis cinerea" + "obsolete_punctate palmoplantar keratoderma" "LysM and putative peptidoglycan-binding domain-containing protein 3" "small nuclear ribonucleoprotein G" "obsolete_neonatal hemochromatosis" @@ -15963,10 +15964,10 @@ "level of 2-phosphoxylose phosphatase 1 in blood serum" "trait in response to sulfasalazine" "level of homeobox protein MOX-1 in blood serum" + "embryonic morphogenesis" "autosomal dominant nonsyndromic hearing loss 11" "diaphysis of femur" "level of myomesin-1 in blood" - "embryonic morphogenesis" "pathological myopia" "obsolete_arterial tortuosity syndrome" "myelophthisic anemia" @@ -15980,9 +15981,9 @@ "X-23787 measurement" "obsolete_SHOX-related short stature" "obsolete_adrenal cortex" - "Progéria - short stature - pigmented nevi" "myc target protein 1 measurement" "DCN1-like protein 2" + "Progéria - short stature - pigmented nevi" "obsolete_carnitine palmitoyl transferase II deficiency, neonatal form" "disorder of metabolite absorption and transport" "mastectomy"@en @@ -16006,8 +16007,8 @@ "Guanarito virus" "level of gap junction delta-2 protein in blood serum" "Abnormal cardiac atrium morphology" - "Estrogen resistance syndrome" "Epidermolysis bullosa simplex, Ogna type" + "Estrogen resistance syndrome" "SCP2 sterol-binding domain-containing protein 1 measurement" "Yersinia pestis" "gonadal agenesis" @@ -16045,8 +16046,8 @@ "Double inlet left ventricle" "1-arachidonoyl-GPE (20:4n6) measurement" "type II diabetes mellitus with acanthosis nigricans" - "gastric outlet obstruction" "level of secretory carrier-associated membrane protein 5 in blood serum" + "gastric outlet obstruction" "histone acetyltransferase kat6a measurement" "level of heat shock protein HSP 90-alpha in blood serum" "level of proteasome subunit beta type-3 in blood serum" @@ -16081,8 +16082,8 @@ "adhesion G protein-coupled receptor E2 measurement" "obsolete_autosomal dominant distal hereditary motor neuropathy" "72 kDa inositol polyphosphate 5-phosphatase measurement" - "embryo sac" "Micrococcal Nuclease digestion" + "embryo sac" "Pierre Robin syndrome-faciodigital anomaly syndrome" "INTACT" "benign neoplasm of glottis" @@ -16123,13 +16124,13 @@ "neurodegeneration with brain iron accumulation 8" "Autosomal dominant Charcot-Marie-Tooth disease type 2L" "obsolete_platyspondylic dysplasia, Torrance type" - "astaxanthin measurement" "tyrosine-protein phosphatase non-receptor type 6 measurement" + "obsolete_Prader-Willi-like syndrome" "2'-5'-oligoadenylate synthase 1 measurement" "spondyloepimetaphyseal dysplasia, matrilin-3 type" "level of tetraspanin-7 in blood" + "astaxanthin measurement" "linguistic error measurement" - "obsolete_Prader-Willi-like syndrome" "autosomal recessive severe congenital neutropenia due to CSF3R deficiency" "interleukin-2 receptor subunit beta" "level of frizzled-8 in blood" @@ -16186,8 +16187,8 @@ "antirheumatic drug" "Epididymitis" "liver disease biomarker" - "protein sidekick-2" "intestinal polyp" + "protein sidekick-2" "cation-dependent mannose-6-phosphate receptor measurement" "insect visual primordium" "obsolete_benign familial nocturnal alternating hemiplegia of childhood" @@ -16200,9 +16201,9 @@ "growth/differentiation factor 5 measurement" "white matter volume measurement" "mitral valve insufficiency" + "X-24574 measurement" "Cogan-Reese syndrome" "level of Leu-Phe in blood" - "X-24574 measurement" "methylation profiling by high throughput sequencing" "anterior compartment syndrome" "porencephaly-microcephaly-bilateral congenital cataract syndrome" @@ -16228,8 +16229,8 @@ "X inactivation, familial skewed, 1" "cadmium chloride measurement"@en "subacute bacterial endocarditis" - "A2780" "UL16-binding protein 2" + "A2780" "ATTRV122I amyloidosis" "chronic respiratory distress with surfactant metabolism deficiency" "Autosomal dominant cerebellar ataxia type 2" @@ -16304,10 +16305,10 @@ "obsolete_Camurati-Engelmann disease" "glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form" "Gait imbalance" - "obsolete_median nodule of the upper lip" "level of glycosaminoglycan xylosylkinase in blood serum" - "myristate 14:0-to-myristoleate 14:1n5 ratio" + "obsolete_median nodule of the upper lip" "differential expression analysis data" + "myristate 14:0-to-myristoleate 14:1n5 ratio" "Rab11 family-interacting protein 3" "GM11831" "B-cell lymphoma/leukemia 10 measurement" @@ -16401,8 +16402,8 @@ "childhood epilepsy with centrotemporal spikes" "immature NK T cell stage I" "level of 26S proteasome non-ATPase regulatory subunit 9 in blood serum" - "mitochondrial import inner membrane translocase subunit Tim23" "obsolete_megalencephalic leukoencephalopathy with subcortical cysts" + "mitochondrial import inner membrane translocase subunit Tim23" "GM23338" "calcium-binding protein 8" "3-oxoacyl-[acyl-carrier-protein] synthase, mitochondrial" @@ -16428,12 +16429,12 @@ "chronic dacryoadenitis" "brain sarcoma" "E3 ubiquitin-protein ligase parkin" + "UPCI-SCC-131" "skin sensitivity to sun" "GTP-binding protein RhoA" - "UPCI-SCC-131" "Hypoplasia of the fovea" - "N-acylneuraminate-9-phosphatase" "non-functioning pituitary gland neoplasm" + "N-acylneuraminate-9-phosphatase" "juvenile sialidosis type II" "smooth muscle tumor" "Rare genetic odontologic disease" @@ -16454,8 +16455,8 @@ "ALG8-congenital disorder of glycosylation" "level of CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 in blood serum" "Benign Salivary Gland Myoepithelioma" - "Attached earlobe" "Marburg hemorrhagic fever" + "Attached earlobe" "bradykinin measurement" "obsolete_partial deletion of chromosome 9" "galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 measurement" @@ -16467,9 +16468,9 @@ "CLASH" "3T3-F442A" "level of PRKC apoptosis WT1 regulator protein in blood serum" + "Epidermolysis bullosa simplex with circinate migratory erythema" "Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency" "3-4-hydroxyphenyl lactate-to-alpha-hydroxyisovalerate ratio"@en - "Epidermolysis bullosa simplex with circinate migratory erythema" "maxillary sinus inverted papilloma" "retinal edema" "5-azacytidine-induced protein 2" @@ -16491,13 +16492,13 @@ "obsolete_congenital myasthenic syndromes with glycosylation defect" "translin measurement" "fatal familial insomnia" - "Pavo cristatus" "Qualitative or quantitative defects of collagen 6" - "level of ubiquitin carboxyl-terminal hydrolase 8 in blood serum" + "Pavo cristatus" "glycylvaline measurement" + "level of ubiquitin carboxyl-terminal hydrolase 8 in blood serum" "interleukin-23 measurement" - "laurin-Sandrow syndrome" "GM17793" + "laurin-Sandrow syndrome" "tubulin-folding cofactor B" "N-acetyl-L-aspartic acid" "Zika virus infectious disease" @@ -16594,8 +16595,8 @@ "HCC1937" "DR20" "level of angiopoietin-related protein 7 in blood serum" - "nuclear protein NP60" "Isochrysis galbana" + "nuclear protein NP60" "chloride transmembrane transporter activity" "protein APCDD1" "acute myeloblastic leukemia without maturation" @@ -16621,18 +16622,18 @@ "cholesteryl ester 22:6 measurement"@en "Ras-related and estrogen-regulated growth inhibitor" "Conductive deafness - ptosis - skeletal anomalies" - "level of chemokine-like protein TAFA-3 in blood serum" "obsolete_isolated hereditary congenital facial paralysis" - "alcohol and nicotine codependence" + "level of chemokine-like protein TAFA-3 in blood serum" "cell division control protein 42 homolog measurement" + "alcohol and nicotine codependence" "scavenger receptor class A member 5 measurement" "AT-rich interactive domain-containing protein 3C" "obsolete_VACTERL with hydrocephalus" "virus seropositivity" "rostral middle frontal gyrus volume measurement"@en - "erucic acid measurement" "Joubert syndrome and related disorders" "gamma-Glu-Gln" + "erucic acid measurement" "serine/threonine-protein kinase N2" "acute salpingitis" "C-type lectin domain family 2 member A" @@ -16727,8 +16728,8 @@ "cyclin-dependent kinase inhibitor 3 measurement" "hemorheological measurement" "sulfhemoglobinemia" - "nonsyndromic congenital nail disorder 4" "molar-incisor hypomineralization" + "nonsyndromic congenital nail disorder 4" "inherited reflex epilepsy" "thymus lipoma" "cholesterol esters in medium VLDL measurement" @@ -16772,8 +16773,8 @@ "level of interferon-inducible protein AIM2 in blood serum" "benign neoplasm of pleura" "obsolete_hyperimmunoglobulinemia D with periodic fever" - "guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12" "a disintegrin and metalloproteinase with thrombospondin motifs 3 measurement" + "guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-12" "T3a tumor stage" "organelle envelope" "phyllid" @@ -16793,8 +16794,8 @@ "Reticulocyte Corpuscular Hemoglobin Distribution Width" "spinocerebellar ataxia type 13" "obsolete_selective IgM deficiency" - "level of glutathione-specific gamma-glutamylcyclotransferase 2 in blood serum" "gastroparesis" + "level of glutathione-specific gamma-glutamylcyclotransferase 2 in blood serum" "clarithromycin" "level of endoplasmin in blood serum" "obsolete_right ventricle" @@ -16823,9 +16824,9 @@ "Cervical Adenoid Cystic Carcinoma" "obsolete short rib-polydactyly syndrome, Saldino-Noonan type" "7alpha-hydroxy-3-oxo-4-cholestenoic acid" + "Spondylometaphyseal dysplasia - cone-rod dystrophy" "thyroid gland" "disappearing bone disease" - "Spondylometaphyseal dysplasia - cone-rod dystrophy" "reduced representation preparation" "TARP syndrome" "level of cartilage intermediate layer protein 1 in blood serum" @@ -16838,9 +16839,9 @@ "DCN1-like protein 5" "immune system organ benign neoplasm" "opercular lateral line neuromast" - "experimental stage" "level of serine/threonine-protein phosphatase 1 regulatory subunit 10 in blood serum" "level of Ceramide (d42:2) in blood serum" + "experimental stage" "level of zinc finger CCHC domain-containing protein 18 (human) in blood serum" "CS57569" "level of macoilin in blood serum" @@ -16859,9 +16860,9 @@ "episodic ataxia type 5" "obsolete_pseudohyperaldosteronism type 2" "hereditary geniospasm" - "obsolete_pancytopenia-developmental delay syndrome" "3-Indolepropionic acid to N,N-Dimethylglycine ratio" "level of phosphatidylcholine transfer protein in blood serum" + "obsolete_pancytopenia-developmental delay syndrome" "mature CD11c-low plasmacytoid dendritic cell" "m-hydroxyhippurate" "obsolete_46,XX disorder of gonadal development" @@ -16935,8 +16936,8 @@ "response to fluoroquinolones" "dissection" "Progressive sensorineural hearing loss - hypertrophic cardiomyopathy" - "infective arthritis" "level of SCAN domain-containing protein 1 in blood serum" + "infective arthritis" "Brodmann (1909) area 38" "histone acetyltransferase type b catalytic subunit measurement" "family size" @@ -16978,8 +16979,8 @@ "level of peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 in blood serum" "level of frizzled-2 in blood serum" "pituitary gland disease" - "Genetic motor neuron disease" "nerve root" + "Genetic motor neuron disease" "hereditary spastic paraplegia 4" "level of glutamate receptor ionotropic, delta-1 in blood serum" "lethal Larsen-like syndrome" @@ -16987,8 +16988,8 @@ "oleoyl-arachidonoyl-glycerol (18:1/20:4) [1] measurement" "Vang-like protein 1" "weight-to-muscle ratio"@en - "engulfment and cell motility protein 2" "phospholipids in very large VLDL measurement " + "engulfment and cell motility protein 2" "stearoylcarnitine measurement" "smad5" "interstitial dendritic cell" @@ -17005,10 +17006,10 @@ "HG03095" "DNase-hypersensitivity seq" "periosteal chondrosarcoma" - "Autosomal dominant Charcot-Marie-Tooth disease type 2A1" - "ubiquitin carboxyl-terminal hydrolase isozyme L1 measurement" "level of microtubule nucleation factor SSNA1 in blood serum" + "Autosomal dominant Charcot-Marie-Tooth disease type 2A1" "craniotelencephalic dysplasia" + "ubiquitin carboxyl-terminal hydrolase isozyme L1 measurement" "level of motor neuron and pancreas homeobox protein 1 in blood serum" "myc proto-oncogene protein measurement" "Charcot-Marie-Tooth disease axonal type 2T" @@ -17069,8 +17070,8 @@ "sarcomatoid transitional cell carcinoma" "obsolete_occipital lobe" "BRCA1-related cancer predisposition" - "Liddle syndrome" "Ethmoid Sinus Adenoid Cystic Carcinoma" + "Liddle syndrome" "(N(omega)-L-arginino)succinic acid" "folate intake measurement"@en "chromosome 16 disorder" @@ -17090,8 +17091,8 @@ "arylesterase enzyme measurement" "ocular motor apraxia, Cogan type" "vessel" - "pycnodysostosis" "gastric non-cardia carcinoma" + "pycnodysostosis" "periodic limb movement disorder" "brachydactylous dwarfism, Mseleni type" "level of B-cell linker protein in blood" @@ -17225,8 +17226,8 @@ "X-17438 measurement" "Bell-shaped thorax" "spondylodysplastic dysplasia" - "response to ondansetron"@en "WT47 cells" + "response to ondansetron"@en "obsolete_isolated oxycephaly" "level of homeobox protein HMX2 in blood serum" "oropharyngeal carcinoma" @@ -17338,14 +17339,14 @@ "free cholesterol in IDL measurement" "HCC1954" "ADAMTS-like protein 4" - "obsolete_pituitary stalk interruption syndrome" "obsolete_genetic nail anomaly" - "obsolete_pure or complex autosomal recessive spastic paraplegia" - "obsolete_Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia" + "obsolete_pituitary stalk interruption syndrome" "level of coiled-coil domain-containing protein 69 in blood serum" + "obsolete_pure or complex autosomal recessive spastic paraplegia" "in situ sequencing" "small integral membrane protein 9" "Anterior creases of earlobe" + "obsolete_Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia" "3-hydroxybutyrate change measurement" "Non-steroidal anti-inflammatory and antirheumatic product use measurement" "Streptococcus sanguinis" @@ -17358,8 +17359,8 @@ "uridine phosphorylase 1" "G141" "obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome" - "obsolete_COG5-CDG" "tumor necrosis factor receptor superfamily member 19 measurement" + "obsolete_COG5-CDG" "6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2" "hyperimmunoglobulinemia D with periodic fever" "Phakomatosis with eye involvement" @@ -17426,9 +17427,9 @@ "recessive dystrophic epidermolysis bullosa" "non-rhizomelic chondrodysplasia punctata" "level of phospholipase DDHD2 in blood serum" - "cholecystolithiasis" "Hennekam-Beemer syndrome" "anophthalmia/microphthalmia-esophageal atresia syndrome" + "cholecystolithiasis" "neuronal ceroid lipofuscinosis 5" "Charcot-Marie-Tooth disease type 1E" "periventricular nodular heterotopia" @@ -17472,9 +17473,9 @@ "childhood malignant melanoma" "tuftelin-interacting protein 11 measurement" "obsolete_immunoglobulin heavy chain deficiency" - "erythrocyte aggregation" "level of GDP-fucose protein O-fucosyltransferase 1 in blood serum" "neuron projection" + "erythrocyte aggregation" "callous-unemotional behaviour" "phospholipids in medium LDL measurement" "myoclonus-cerebellar ataxia-deafness syndrome" @@ -17503,9 +17504,9 @@ "Unspecified mitochondrial disorder" "HMC-1-8 cell" "alcohol withdrawal" + "mirror movements 3" "triacylglycerol 58:12" "mandibulofacial dysostosis-macroblepharon-macrostomia syndrome" - "mirror movements 3" "level of ubiquilin-3 in blood serum" "obsolete_multiple synostoses syndrome" "phage seropositivity" @@ -17576,8 +17577,8 @@ "cytochrome c oxidase subunit 5A, mitochondrial" "level of Rho GTPase-activating protein 25 in blood serum" "endoplasmic reticulum resident protein 29 measurement" - "vascular smooth muscle hypertrophy" "bone benign neoplasm" + "vascular smooth muscle hypertrophy" "nucleus of medial longitudinal fasciculus of medulla" "level of Ceramide (d42:1) in blood serum" "high content screening stage" @@ -17708,8 +17709,8 @@ "myocyte-specific enhancer factor 2C" "childhood leukemia" "growth retardation-mild developmental delay-chronic hepatitis syndrome" - "lysophosphatidylcholine 18:1 measurement"@en "androsterone sulfate" + "lysophosphatidylcholine 18:1 measurement"@en "oculodentodigital dysplasia" "level of sarcospan in blood serum" "histone acetyltransferase KAT2A" @@ -17770,8 +17771,8 @@ "obsolete hereditary thrombocytopenia with normal platelets" "forskolin" "Toll/interleukin-1 receptor domain-containing adapter protein" - "obsolete_isolated asymptomatic elevation of creatine phosphokinase" "microcephaly-polymicrogyria-corpus callosum agenesis syndrome" + "obsolete_isolated asymptomatic elevation of creatine phosphokinase" "animal disease" "carboxylic acid measurement"@en "idiopathic nephrotic syndrome" @@ -17784,9 +17785,9 @@ "intracranial germ cell tumor"@en "xanthomatosis" "hilar portion of hepatic duct" - "X-11845 measurement" "chromosome 19 disorder" "obsolete_pharyngeal pouch 5" + "X-11845 measurement" "congenital mitral malformation" "central nervous system calcification-deafness-tubular acidosis-anemia syndrome" "cholesteryl ester 22:4 measurement" @@ -17805,9 +17806,9 @@ "autoimmune polyendocrinopathy" "bark" "obsolete_spinocerebellar ataxia" - "CAL 27" "sodium channel subunit beta-3" "partial deletion of the long arm of chromosome 14" + "CAL 27" "Hyperglycinuria" "DNA-binding protein inhibitor ID-1" "peripheral plasma membrane protein CASK" @@ -17839,14 +17840,14 @@ "level of calmegin in blood" "obsolete_combined cervical dystonia" "White matter hypoplasia - corpus callosum agenesis - intellectual disability" - "lisinopril measurement" "oculogastrointestinal muscular dystrophy" - "genetic non-acquired premature ovarian failure"@en + "lisinopril measurement" "obsolete_head mesoderm anlage" "Theiler stage 24" - "hepatitis B virus induced hepatocellular carcinoma" + "genetic non-acquired premature ovarian failure"@en "peritonsillar abscess" "septum of telencephalon" + "hepatitis B virus induced hepatocellular carcinoma" "Schinzel-Giedion syndrome" "AB SOLiD System 3.0" "spondyloepimetaphyseal dysplasia, Handigodu type" @@ -17862,16 +17863,16 @@ "congenital mitral stenosis" "milligram per milliliter" "cell suspension culture" - "collagen alpha-2(XI) chain measurement" - "dihomo-linolenate 20:3n3 or n6 measurement" "central nervous system nongerminomatous germ cell tumor" - "Antiglaucoma preparations and miotics use measurement" + "collagen alpha-2(XI) chain measurement" "temporal lobe cancer" - "lung disease severity measurement" + "dihomo-linolenate 20:3n3 or n6 measurement" "renal pelvis inverted papilloma" "Aplasia/Hypoplasia of the cerebellum" "valine--tRNA ligase" + "Antiglaucoma preparations and miotics use measurement" "microcephaly, short stature, and limb abnormalities" + "lung disease severity measurement" "obsolete_Li-Fraumeni syndrome" "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1" "infectious otitis media" @@ -17896,13 +17897,13 @@ "level of MOB kinase activator 1B in blood serum" "obsolete_bone dysplasia, lethal Holmgren type" "obsolete_peripheral resistance to thyroid hormones" - "pediatric lymphoma" "Short stature - deafness - neutrophil dysfunction - dysmorphism" + "pediatric lymphoma" "Genetic dermis elastic tissue disorder" - "RNA assay" "Primary immunodeficiency due to a defect in innate immunity" - "protein Wnt-5a" + "RNA assay" "pancreatic adenosquamous carcinoma" + "protein Wnt-5a" "congenital disorder of glycosylation with defective fucosylation" "rare syndromic intellectual disability"@en "semaphorin-6C" @@ -17934,8 +17935,8 @@ "serine/threonine-protein kinase ULK3" "basic salivary proline-rich protein 4 measurement" "Teleopsis whitei" - "obsolete_PFAPA syndrome" "E3 ubiquitin-protein ligase RBBP6 measurement" + "obsolete_PFAPA syndrome" "level of protein-glutamine gamma-glutamyltransferase 2 in blood" "trichodysplasia-xeroderma syndrome" "3-Indolepropionic acid to Methylmalonic acid ratio" @@ -17973,11 +17974,11 @@ "Paranasal Sinus Schneiderian Papilloma" "protocadherin-12" "obsolete_thallus" + "magnetic affinity cell sorting" "acute kidney failure" "polypeptide N-acetylgalactosaminyltransferase 16" "GM17240" "level of sorting nexin-9 in blood" - "magnetic affinity cell sorting" "level of variable charge X-linked protein 1 in blood serum" "obsolete_spinocerebellar ataxia type 6" "inflammation of heart layer" @@ -17999,8 +18000,8 @@ "Abnormal mitral valve physiology" "HCC515" "ring chromosome 14" - "vitreoretinal degeneration" "(cis/trans)-aconitate measurement" + "vitreoretinal degeneration" "thiosulfate sulfurtransferase measurement" "level of Rap guanine nucleotide exchange factor 5 in blood serum" "lower digestive tract" @@ -18075,11 +18076,11 @@ "somatostatinoma" "ABCD syndrome" "obsolete_progeria-associated arthropathy" - "grade III meningioma" "Cronobacter dublinensis" + "grade III meningioma" + "biotin-responsive basal ganglia disease" "chondroblastoma" "anus cancer" - "biotin-responsive basal ganglia disease" "actin-related protein 2/3 complex subunit 5" "Perturb-Seq" "obsolete_coralliform cataract" @@ -18237,8 +18238,8 @@ "hyperuricemic nephropathy, familial juvenile type 3" "level of voltage-dependent L-type calcium channel subunit alpha-1C in blood" "GM03318 cell" - "uridine phosphorylase 2" "G142" + "uridine phosphorylase 2" "tumor necrosis factor receptor superfamily member 1Ameasurement" "familial generalized lentiginosis" "syntaxin-binding protein 6" @@ -18252,15 +18253,15 @@ "Hyperpituitarism" "mature T cell" "VMRC-RCW cell" - "4-methoxyphenol sulfate measurement" "obsolete_cardiospondylocarpofacial syndrome" + "4-methoxyphenol sulfate measurement" "lateral line ganglion" - "animal allergen seropositivity" "obsolete_congenital microcoria" - "obsolete_anterior lateral line system" - "establishment of localization in cell" + "animal allergen seropositivity" "X-11478 measurement" "red blood cell density measurement" + "obsolete_anterior lateral line system" + "establishment of localization in cell" "Charlevoix-Saguenay spastic ataxia" "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11" "POU domain class 2-associating factor 1" @@ -18309,9 +18310,9 @@ "obsolete_acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" "sensory perception of bitter taste" "impetigo herpetiformis" + "obsolete_severe early-onset axonal neuropathy due to NEFL deficiency" "Zea mays" "metaphysis of femur" - "obsolete_severe early-onset axonal neuropathy due to NEFL deficiency" "apolipoprotein E" "activin/inhibin beta B chain" "cysteine-rich motor neuron 1 protein measurement" @@ -18382,8 +18383,8 @@ "level of scavenger receptor class B member 1 in blood serum" "Castleman-Kojima disease" "level of stress-70 protein, mitochondrial in blood serum" - "GM17765" "protein EURL" + "GM17765" "obsolete_optic primordium" "level of insulin-like growth factor 2 mRNA-binding protein 3 in blood" "antineoplastic agent" @@ -18406,14 +18407,14 @@ "airway submucosal gland"@en "lacrimal apparatus disease" "Autosomal dominant nail dysplasia" - "subdural empyema" "level of zona pellucida sperm-binding protein 4 in blood serum" + "subdural empyema" "autosomal recessive limb-girdle muscular dystrophy type 2N" "obsolete_autosomal recessive polycystic kidney disease" "sialic acid-binding Ig-like lectin 9 measurement" "level of nucleolin in blood serum" - "equine infectious anemia" "tetradecadienoate (14:2) measurement" + "equine infectious anemia" "obsolete_percent oxygen" "C-type lectin domain family 12 member A" "metopic ridging-ptosis-facial dysmorphism syndrome" @@ -18455,15 +18456,15 @@ "dynein regulatory complex protein 10" "Recurrent aphthous stomatitis" "Cervical Clear Cell Adenocarcinoma" - "monostotic fibrous dysplasia" + "mothers against decapentaplegic homolog 2 measurement" "tinea" + "monostotic fibrous dysplasia" "phosphatidylcholine 42:6" "obsolete Goldenhar syndrome" "level of translocon-associated protein subunit alpha in blood serum" "beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase" "lethal congenital contracture syndrome 1" "vascular hemostatic disease" - "mothers against decapentaplegic homolog 2 measurement" "nose" "Neurofibromatosis type 1 due to NF1mutation or intragenic deletion" "uterine benign neoplasm" @@ -18511,9 +18512,9 @@ "Intellectual disability" "Abnormality of the urinary system physiology" "obsolete_tuber" + "obsolete_Pai syndrome" "carnitine measurement"@en "immature platelet measurement" - "obsolete_Pai syndrome" "nasopharynx" "malignant germ cell tumor of ovary" "Laryngeal cleft" @@ -18536,8 +18537,8 @@ "Late-onset distal myopathy, Markesbery-Griggs type" "Acanthamoeba keratitis" "cranial division of the internal carotid artery" - "partial sensory epilepsy" "5-amino-1-(5-phospho-D-ribosyl)imidazole" + "partial sensory epilepsy" "ChIP-chip by SNP array" "protocadherin beta-10 measurement" "serpin A9" @@ -18549,8 +18550,8 @@ "imipramine" "eicosadienoic acid measurement" "total glycated albumin" - "albumin:globulin ratio measurement" "level of replication factor C subunit 4 in blood" + "albumin:globulin ratio measurement" "Absent muscle fiber dysferlin" "epilepsy, progressive myoclonic, 11" "CCD-18Co cell" @@ -18699,9 +18700,9 @@ "microcephaly-complex motor and sensory axonal neuropathy syndrome" "upper digestive tract" "lipoma of colon" + "Obesity due to congenital leptin resistance" "high bone mass osteogenesis imperfecta" "Brassica juncea" - "Obesity due to congenital leptin resistance" "Extrahepatic Bile Duct Squamous Cell Carcinoma" "CUB and sushi domain-containing protein 2" "infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly" @@ -18735,9 +18736,9 @@ "obsolete COACH syndrome 1" "obsolete_Isolated succinate-CoQ reductase deficiency" "malonic acid measurement" + "obsolete_Amish infantile epilepsy syndrome" "schizencephaly" "level of biogenesis of lysosome-related organelles complex 1 subunit 3 in blood" - "obsolete_Amish infantile epilepsy syndrome" "Campylobacter jejuni subsp. jejuni NCTC 11168" "Sphingofungin B" "MPDU1-congenital disorder of glycosylation" @@ -18763,8 +18764,8 @@ "Leber congenital amaurosis 16" "Leishmaniasis" "obsolete_beta-thalassemia major" - "space motion sickness" "Aspergillus chevalieri" + "space motion sickness" "Monocytoid Cells to Leukocytes Ratio Measurement" "level of kynurenine--oxoglutarate transaminase 3 in blood serum" "isolated ectopia lentis" @@ -18786,10 +18787,10 @@ "LRP5-related primary osteoporosis" "Trichoderma reesei QM6a" "CS57850" - "obsolete_short stature, Brussels type" "level of small RNA 2'-O-methyltransferase in blood serum" - "obsolete_complement component 3 deficiency" + "obsolete_short stature, Brussels type" "bilateral microtia-deafness-cleft palate syndrome" + "obsolete_complement component 3 deficiency" "phakomatosis pigmentovascularis" "Lilium regale" "Alar cartilages hypoplasia - coloboma - telecanthus" @@ -18817,9 +18818,9 @@ "chondromyxoid fibroma" "central brain primordium" "GRN-related frontotemporal lobar degeneration with Tdp43 inclusions" - "obsolete_Nuclear cataract" "Genetic bone tumor" "histone-lysine N-methyltransferase ASH1L measurement" + "obsolete_Nuclear cataract" "Usher syndrome type 3" "obsolete DNA methylation" "ras-related protein Rab-27A measurement" @@ -18857,8 +18858,8 @@ "methyltransferase-like protein 11A" "congenital Horner syndrome" "Non-hereditary late-onset primary lymphedema" - "invasive lobular carcinoma" "C14:0 sphingomyelin measurement" + "invasive lobular carcinoma" "GRO-CAP" "anti-merkel cell virus antibody measurement"@en "stricture" @@ -18949,12 +18950,12 @@ "Deafness - vitiligo - achalasia" "fungus seropositivity" "familial hyperthyroidism due to mutations in TSH receptor" - "congenital disorder of glycosylation type I" "maxillary sensory complex primordium" "level of C-Maf-inducing protein in blood" "C-type lectin domain family 4 member A" "POU domain, class 2, transcription factor 1" "RPMI8226" + "congenital disorder of glycosylation type I" "level of glutamate decarboxylase 1 in blood serum" "obsolete_blood plasma" "renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss" @@ -18975,8 +18976,8 @@ "parietal foramina 2" "immature CD8_alpha-low Langerhans cell" "octadecanedioate measurement" - "obsolete_adrenogenital syndrome" "uncharacterized protein KIAA0040 measurement" + "obsolete_adrenogenital syndrome" "spermatogenic failure 26" "Streptococcus suis" "Waardenburg syndrome type 2E" @@ -19031,9 +19032,9 @@ "level of NACHT, LRR and PYD domains-containing protein 1 in blood serum" "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" "pulmonary non-tuberculous mycobacterial infection" + "DET1- and DDB1-associated protein 1" "decanoate" "level of 3'-5' exoribonuclease 1 in blood" - "DET1- and DDB1-associated protein 1" "embryonic blood" "endothelial monocyte-activating polypeptide 2 measurement" "AG04450" @@ -19078,8 +19079,8 @@ "Spermophilus tridecemlineatus" "synaptotagmin-1" "ribosomal protein S6 kinase beta-1" - "ubiquitin-like domain-containing CTD phosphatase 1" "Alpha-thalassemia - X-linked intellectual disability syndrome" + "ubiquitin-like domain-containing CTD phosphatase 1" "brevican core protein measurement" "primary cutaneous lymphoma" "presumptive rhombomere 7" @@ -19274,10 +19275,10 @@ "Postsynaptic congenital myasthenic syndromes" "obsolete genetic hypertension" "inborn disorder of purine or pyrimidine metabolism" - "proteomic profiling by array" "Pasteurella hemorrhagic septicemia" - "level of eukaryotic translation initiation factor 4 gamma 1 in blood serum" "protocadherin beta-2 measurement" + "proteomic profiling by array" + "level of eukaryotic translation initiation factor 4 gamma 1 in blood serum" "cholinergic antagonist" "cortical surface area change measurement"@en "adult central nervous system germ cell tumor" @@ -19306,11 +19307,11 @@ "2-hydroxysebacate measurement" "obsolete Knobloch syndrome" "very long chain acyl-CoA dehydrogenase deficiency" - "obsolete_periodic paralysis with transient compartment-like syndrome" "carbohydrate sulfotransferase 9" "level of phosphatidylinositol 5-phosphate 4-kinase type-2 alpha in blood serum" "level of frizzled-8 in blood serum" "Methylobacterium extorquens AM1" + "obsolete_periodic paralysis with transient compartment-like syndrome" "Ehlers-Danlos syndrome, spondylodysplastic type" "macula of utricle of membranous labyrinth" "silicon atom" @@ -19403,9 +19404,9 @@ "malignant sex cord stromal tumor of ovary" "homeobox protein DLX-2" "adenosine deaminase 2" + "osteoradionecrosis" "chromosomal aberration frequency" "fingerprint body myopathy" - "osteoradionecrosis" "EH domain-binding protein 1 measurement" "obsolete_syndromic hair shaft abnormality" "obsolete_male infertility with teratozoospermia due to single gene mutation" @@ -19479,8 +19480,8 @@ "neuron-specific vesicular protein calcyon" "level of scaffold attachment factor B2 in blood" "level of syntaxin-binding protein 4 in blood" - "metformin measurement" "methylmalonic aciduria and homocystinuria type cblF" + "metformin measurement" "obsolete_sensory nervous system primordium" "level of triggering receptor expressed on myeloid cells 2 in blood serum" "X-10395 measurement" @@ -19591,8 +19592,8 @@ "woolly hair-skin fragility syndrome" "3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol hydrochloride" "Meige disease" - "irradiate" "obsolete_peeling skin syndrome type A" + "irradiate" "obsolete_X-linked cerebral adrenoleukodystrophy" "common carotid intimal medial thickness" "pigmented nodular adrenocortical disease, primary, 3" @@ -19632,9 +19633,9 @@ "5,6-dihydrouracil" "nerve plexus" "obsolete_acrocallosal syndrome" - "obsolete_Gaucher disease" "cinnamic acid measurement" "organism status" + "obsolete_Gaucher disease" "Young syndrome" "2'-O-methyluridine measurement" "maleate measurement"@en @@ -19652,8 +19653,8 @@ "primary pigmented nodular adrenocortical disease" "Penicillium expansum" "desmosome" - "voltage-dependent T-type calcium channel subunit alpha-1H" "netrin-4 measurement" + "voltage-dependent T-type calcium channel subunit alpha-1H" "ceramide phosphoethanolamine" "level of growth arrest and DNA damage-inducible proteins-interacting protein 1 in blood serum" "mycotoxicosis" @@ -19716,8 +19717,8 @@ "intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome" "renal dialysis" "congenital bowing of long bones" - "transmembrane protein 132D" "insulin-like growth factor 2 mRNA-binding protein 3" + "transmembrane protein 132D" "SHAPE-Seq" "tumor predisposition syndrome 2" "level of desumoylating isopeptidase 1 in blood serum" @@ -19764,8 +19765,8 @@ "autopod" "transient neonatal multiple acyl-CoA dehydrogenase deficiency" "response to bevacizumab" - "inverted follicular keratosis" "obsolete_familial papillary thyroid carcinoma with renal papillary neoplasia" + "inverted follicular keratosis" "DNA repair protein RAD51 homolog 4 measurement" "Generalized myoclonic-atonic seizure" "Zea mays subsp. mexicana" @@ -19823,12 +19824,12 @@ "GM17736" "level of DNA damage-inducible transcript 4 protein in blood serum" "sweat gland neoplasm" + "obsolete_obesity due to melanocortin 4 receptor deficiency" + "response to angiotensin-converting enzyme inhibitor" "A204" "level of leukocyte immunoglobulin-like receptor subfamily B member 5 in blood serum" - "response to angiotensin-converting enzyme inhibitor" "rectum malignant melanoma" "cholesterol esters in medium LDL measurement" - "obsolete_obesity due to melanocortin 4 receptor deficiency" "central nervous system hemangioma" "7,12-dimethyltetraphene" "obsolete_Brachyolmia type 1, Hobaek type" @@ -19863,8 +19864,8 @@ "catecholamine secretion" "obsolete_vitamin B12-responsive methylmalonic acidemia" "level of aldo-keto reductase family 1 member B1 in blood serum" - "phosphatidylcholine acyl-alkyl C42:3 measurement" "oocyte/zygote/embryo maturation arrest 17" + "phosphatidylcholine acyl-alkyl C42:3 measurement" "autosomal dominant myoglobinuria" "Geobacillus sp. E263" "childhood testicular mixed germ cell cancer" @@ -19912,8 +19913,8 @@ "obsolete_hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome" "cell barcode" "CWR-22 cell" - "RERF-GC-1B" "ATPase WRNIP1" + "RERF-GC-1B" "operator variation design" "metastasis measurement" "DENN domain-containing protein 10" @@ -20151,9 +20152,9 @@ "penile neoplasm" "free cholesterol measurement" "lattice corneal dystrophy type I" - "kwashiorkor" "cAMP-dependent protein kinase type II-alpha regulatory subunit" "ovarian primitive germ cell tumor" + "kwashiorkor" "parietal cortex measurement" "distal monosomy 1q" "tigloylglycine measurement" @@ -20164,10 +20165,10 @@ "obsolete_MOMO syndrome" "extrahepatic bile duct neoplasm" "Alternaria alternata" - "obsolete_hypochondrogenesis" "obsolete_Familial partial lipodystrophy associated with PLIN1 mutations" "whole plant flowering stage" "Chinese" + "obsolete_hypochondrogenesis" "intraocular pressure change measurement" "plexin domain-containing protein 1" "hemifacial hypertrophy" @@ -20204,8 +20205,8 @@ "neonatal diabetes mellitus" "level of Ral guanine nucleotide dissociation stimulator-like 2 in blood" "metastatic colorectal cancer" - "leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome" "serine/threonine-protein kinase MRCK beta measurement" + "leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome" "oculodentodigital dysplasia, autosomal recessive" "level of U4/U6.U5 tri-snRNP-associated protein 1 in blood" "level of formylglycine-generating enzyme in blood" @@ -20238,9 +20239,9 @@ "X-14473 measurement" "CaR-1" "Atypical behavior" + "cutaneous Leishmaniasis" "autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency" "craniosynostosis and dental anomalies" - "cutaneous Leishmaniasis" "level of interferon alpha-5 in blood serum" "patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome" "nucleoside diphosphate kinase A measurement" @@ -20454,12 +20455,12 @@ "Chondroid Chordoma" "alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B measurement" "obsolete_central polydactyly of fingers, unilateral" - "potassium deficiency" "vulvar leiomyoma" "renal hypoplasia, bilateral" "triacylglycerol 48:0" - "Malignant Bone Neoplasm" + "potassium deficiency" "C3H10T1/2" + "Malignant Bone Neoplasm" "level of ERO1-like protein beta in blood serum" "immunodeficiency 25" "elongin-A" @@ -20586,9 +20587,9 @@ "Cucumber mosaic virus (strain FNY)" "level of protein canopy homolog 3 in blood" "obsolete_progressive bifocal chorioretinal atrophy" + "DNA-3-methyladenine glycosylase measurement" "Raji" "dengue disease" - "DNA-3-methyladenine glycosylase measurement" "dorsal skin" "retroperitoneal infection" "Coarse facial features" @@ -20631,8 +20632,8 @@ "embryonic anal pad" "spina bifida cystica" "Constitutional deficiency anemia" - "optimization design" "obsolete_response to zileuton" + "optimization design" "multiple intestinal atresia" "Thrombophlebitis" "head injury" @@ -20665,9 +20666,9 @@ "phosphatidylcholine 40:6" "primordial germ cell" "Microcystic Meningioma" + "obsolete_hemoglobin E disease" "MA-104" "level of tropomodulin-3 in blood serum" - "obsolete_hemoglobin E disease" "eye foreign body" "family history" "thymidylate kinase" @@ -20716,8 +20717,8 @@ "Stargardt disease 4" "EGF-like repeat and discoidin I-like domain-containing protein 3" "genomic DNA" - "tonsillar macrophage" "Rare genetic refraction anomaly" + "tonsillar macrophage" "C57BL/10J"@en "pontocerebellar hypoplasia type 13" "eosinophil-derived neurotoxin measurement"@en @@ -20763,8 +20764,8 @@ "11beta-hydroxyandrosterone glucuronide measurement" "level of alpha-internexin in blood serum" "sodium channelopathy-related small fiber neuropathy" - "level of cyclic AMP-dependent transcription factor ATF-3 in blood serum" "glycosyl compound metabolic process" + "level of cyclic AMP-dependent transcription factor ATF-3 in blood serum" "level of peroxisomal sarcosine oxidase in blood serum" "level of neuroendocrine protein 7B2 in blood serum" "level of chemokine-like protein TAFA-5 in blood serum" @@ -20818,10 +20819,10 @@ "obsolete_cingulate cortex" "obsolete_Leber plus disease" "Camptosynpolydactyly, complex" - "obsolete_Ehlers-Danlos syndrome due to tenascin-X deficiency" "cysteine-rich secretory protein LCCL domain-containing 2" - "renal afferent arteriole" + "obsolete_Ehlers-Danlos syndrome due to tenascin-X deficiency" "CD4-negative, CD8-negative type I NK T cell secreting interleukin-4" + "renal afferent arteriole" "signal-regulatory protein beta-1" "alkaline ceramidase 3 deficiency" "level of SHC-transforming protein 4 in blood serum" @@ -20926,9 +20927,9 @@ "obsolete_lissencephaly with cerebellar hypoplasia type F" "neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities" "Francisella tularensis subsp. tularensis SCHU S4" - "tumor necrosis factor receptor superfamily member 16 measurement" "cadmium sulfate" "spastic ataxia 4" + "tumor necrosis factor receptor superfamily member 16 measurement" "6alpha-methylprednisolone" "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1-related measurement" "level of hydroxysteroid dehydrogenase-like protein 2 in blood" @@ -21015,9 +21016,9 @@ "TERV-AntiSenseB56" "fructose-bisphosphate aldolase measurement" "familial bicuspid aortic valve" - "obsolete_mucolipidosis type IV" "PK-59" "agammaglobulinemia 7, autosomal recessive" + "obsolete_mucolipidosis type IV" "cardiac ventricle" "Picea mariana" "level of ribonuclease-like protein 10 in blood serum" @@ -21102,8 +21103,8 @@ "GM14414" "obsolete_Acrokeratoelastoidosis of Costa" "24-dimethyl-5-vinylthiazole measurement" - "Kaya-Barakat-Masson syndrome" "alpha-hydroxycaproate measurement" + "Kaya-Barakat-Masson syndrome" "uridylate-specific endoribonuclease" "myosin regulatory light chain MRLC3" "cucurbitacin I 2-glucoside measurement" @@ -21199,10 +21200,10 @@ "Induced vaginal delivery" "cysts and fistulae of the face and oral cavity" "Liang-Wang syndrome" + "prediabetes syndrome" "unilateral multicystic dysplastic kidney" "obesity" "Caco-2/TC7" - "prediabetes syndrome" "spondyloepiphyseal dysplasia with congenital joint dislocations" "level of beclin-1 in blood serum" "GTI-Seq" @@ -21329,8 +21330,8 @@ "obsolete_classic pantothenate kinase-associated neurodegeneration" "frontal lobe ependymal tumor" "phenol glucuronide measurement" - "level of vesicle-associated membrane protein-associated protein B/C in blood serum" "RKN" + "level of vesicle-associated membrane protein-associated protein B/C in blood serum" "Generalized pseudohypoaldosteronism type 1" "obsolete_bradyopsia" "probable ATP-dependent RNA helicase DDX4" @@ -21389,9 +21390,9 @@ "response to anthracycline-based chemotherapy" "hexanoylcarnitine-to-octanoylcarnitine ratio" "familial pterygium of the conjunctiva" + "1-palmitoyl-2-palmitoleoyl-GPC(16:0/16:1) measurement" "thrombospondin type-1 domain-containing protein 1" "receptor-type tyrosine-protein phosphatase delta" - "1-palmitoyl-2-palmitoleoyl-GPC(16:0/16:1) measurement" "protein shisa-3 homolog measurement" "Aplasia/Hypoplasia of the phalanges of the 4th toe" "Carassius auratus" @@ -21405,10 +21406,10 @@ "CGR8" "cholate" "paroxysmal dystonia" - "obsolete_trisomy 17p" "LXF-289" "Micropapillary Serous Carcinoma" "endothelin-1" + "obsolete_trisomy 17p" "presumptive pronephric mesoderm" "level of peroxisome proliferator-activated receptor gamma coactivator 1-alpha in blood serum" "1-methyladenosine" @@ -21419,8 +21420,8 @@ "sh2 domain-containing protein 1a measurement" "OVCAR8" "protein shisa-5" - "Cortical dysplasia - focal epilepsy syndrome" "wooly hair, autosomal recessive 3" + "Cortical dysplasia - focal epilepsy syndrome" "ribokinase" "splenic manifestation of hairy cell leukemia" "inositol polyphosphate 4-phosphatase type II" @@ -21456,8 +21457,8 @@ "myeloid zinc finger 1" "Disorder of lysine and hydroxylysine metabolism" "level of tuftelin in blood serum" - "pure or complex autosomal recessive spastic paraplegia" "Madras motor neuron disease" + "pure or complex autosomal recessive spastic paraplegia" "Hordeum vulgare subsp. vulgare" "Rocker bottom foot" "level of cyclic AMP-dependent transcription factor ATF-5 in blood serum" @@ -21509,8 +21510,8 @@ "obsolete_autosomal recessive cutis laxa type 2, classic type" "phosphatidylcholine 33:1 measurement" "obsolete_osteogenesis imperfecta type 4" - "hTERT-HPNE cell" "obsolete_peroneal nerve" + "hTERT-HPNE cell" "LysoPC 20:2 measurement" "infectious myxomatosis" "pheochromocytoma" @@ -21582,9 +21583,9 @@ "ATR-X-related syndrome" "ameloblastin measurement" "anthranilate measurement" - "Von Willebrand disease type 2" "leaf sheath" "Cowden syndrome 7" + "Von Willebrand disease type 2" "nephrolithiasis, calcium oxalate" "level of beta-hexosaminidase subunit alpha in blood serum" "level of AP-1 complex subunit sigma-2 in blood serum" @@ -21603,8 +21604,8 @@ "tocopherol measurement" "level of BTB/POZ domain-containing protein KCTD7 in blood serum" "protein Z deficiency" - "cannabis dependence" "obsolete_radicle" + "cannabis dependence" "obsolete_strain" "liver endoderm" "combined deficiency of factor V and factor VIII" @@ -21625,16 +21626,16 @@ "CD27-high, CD11b-high natural killer cell, mouse" "1HAEo"@en "CS57701" - "Osteoporosis - oculocutaneous hypopigmentation syndrome" "obsolete_distal hereditary motor neuropathy type 7" "ankyrin repeat domain-containing protein 2" "dixin" "level of zinc finger protein SNAI2 in blood serum" "Hypodipsia" - "chiro-inositol measurement" + "Osteoporosis - oculocutaneous hypopigmentation syndrome" "Escherichia coli O157:H7 str. Sakai" - "obsolete_Hermansky-Pudlak syndrome without pulmonary fibrosis" + "chiro-inositol measurement" "1-palmitoyl-2-oleoyl-GPE (16:0/18:1) measurement" + "obsolete_Hermansky-Pudlak syndrome without pulmonary fibrosis" "3-aminoisobutyric acid" "E3 ubiquitin-protein ligase RNF149 measurement" "obsolete_infantile neuronal ceroid lipofuscinosis" @@ -21667,8 +21668,8 @@ "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis" "Proximal tubulopathy - diabetes mellitus - cerebellar ataxia" "level of guanylate-binding protein 4 in blood" - "obsolete_retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies" "canonical inflammasome complex" + "obsolete_retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies" "primary cell line" "wild-derived inbred strain" "Dysmyelinating leukodystrophy" @@ -21687,8 +21688,8 @@ "Ehlers-Danlos syndrome, kyphoscoliotic type 1" "2-hydroxyglutarate measurement"@en "congenital genu recurvatum" - "obsolete_hyperphalangy, bilateral" "autosomal recessive disease" + "obsolete_hyperphalangy, bilateral" "obsolete_qualitative or quantitative defects of desmin" "level of testis-specific serine/threonine-protein kinase 1 in blood serum" "trypsin-1 measurement" @@ -21729,8 +21730,8 @@ "Acrofacial dysostosis, Rodríguez type" "Hypospadias - intellectual disability, Goldblatt type" "ovarian squamous cell neoplasm" - "hypersensitivity pneumonitis" "rectum cancer" + "hypersensitivity pneumonitis" "Caldicellulosiruptor bescii" "malignant cutaneous granular cell skin tumor" "early rosette growth stage" @@ -21762,8 +21763,8 @@ "antioxidant" "mating type F" "Abnormal radial ray morphology" - "level of protocadherin alpha-4 in blood serum" "obsolete_femoral agenesis/hypoplasia, bilateral" + "level of protocadherin alpha-4 in blood serum" "protein MENT" "level of ribonuclease-like protein 13 in blood serum" "insulin secreting cell" @@ -21855,13 +21856,13 @@ "lymphocyte antigen 96" "obsolete_Gitelman syndrome" "vitamin B12- and folate-independent constitutional megaloblastic anemia" + "obsolete_2q24 microdeletion syndrome" "leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 measurement" "prolyl hydroxylase EGLN3" "protein S100-A10" "brain oligodendroglioma" "HKB-11"@en "chronic hepatic porphyria" - "obsolete_2q24 microdeletion syndrome" "jaw disease" "level of pre-mRNA-splicing regulator WTAP in blood serum" "level of sorting nexin-27 in blood serum" @@ -21992,8 +21993,8 @@ "Secreted frizzled-related protein 3 measurement" "CD3 gamma" "calf circumference measurement" - "Dyschromatosis universalis" "obsolete_Böök syndrome" + "Dyschromatosis universalis" "vitamin A" "gremlin-1 measurement" "mastocytoma" @@ -22027,8 +22028,8 @@ "embryonic central brain neuron" "obsolete_Atlas experiment type" "level of E3 ubiquitin-protein ligase SMURF1 in blood serum" - "thyroid peroxidase antibody measurement" "gnathomiasis" + "thyroid peroxidase antibody measurement" "Polysyndactyly" "level of Ras-related protein M-Ras in blood serum" "GTPase HRas" @@ -22062,9 +22063,9 @@ "histone-lysine N-methyltransferase, H3 lysine-79 specific" "obsolete_infantile Bartter syndrome with sensorineural deafness" "pyrraline measurement" + "prognostic subgroup" "pre-pro-epidermal growth factor" "diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency" - "prognostic subgroup" "Aortic root aneurysm" "muscular atrophy" "spastic ataxia" @@ -22162,8 +22163,8 @@ "Clostridium baratii" "endothelin-2" "laminopathy type Decaudain-Vigouroux" - "homeobox protein TGIF2LX" "plexin-A1 measurement" + "homeobox protein TGIF2LX" "obsolete congenital absence/hypoplasia of fingers excluding thumb, bilateral" "shc-transforming protein 1 measurement" "PEO1" @@ -22272,10 +22273,10 @@ "obsolete_episodic ataxia type 6" "growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant" "anaerobic balanitis" + "obsolete_COG7-CDG" "androgen" "level of fatty acid-binding protein 9 in blood serum" "protein C1orf43" - "obsolete_COG7-CDG" "level of thioredoxin domain-containing protein 15 in blood" "knee injury" "dihydrofolate reductase" @@ -22459,8 +22460,8 @@ "acyl-CoA dehydrogenase 9 deficiency" "progressive familial heart block" "(10E,12Z)-octadecadienoic acid" - "oculocerebrodental syndrome" "glycolipid transfer protein measurement" + "oculocerebrodental syndrome" "Escherichia fergusonii" "obsolete_pontocerebellar hypoplasia type 9" "DNA-seq" @@ -22489,8 +22490,8 @@ "obsolete_strain factor" "level of protocadherin alpha-7 in blood serum" "Caplan's syndrome" - "multiple epidermal growth factor-like domains protein 10 measurement" "type B pancreatic cell" + "multiple epidermal growth factor-like domains protein 10 measurement" "Peripheral neuropathy" "lethal Kniest-like dysplasia" "level of flap endonuclease 1 in blood serum" @@ -22500,15 +22501,15 @@ "type 1 diabetes mellitus 2" "pleurisy" "anti-Haemophilus influenzae type b polyribosylribitol phosphate IgG measurement" - "Gaucher disease type 3" "material property" "establishment of localization" "dynein light chain Tctex-type 3" "medial" + "Gaucher disease type 3" "synaptotagmin-2 measurement" - "olfactomedin-like protein 3 measurement" "age of onset of migraine disorder" "GM17166" + "olfactomedin-like protein 3 measurement" "WASH complex subunit 3" "beta-myrcene" "autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency" @@ -22525,8 +22526,8 @@ "chromosome 5p13 duplication syndrome" "obsolete_SLC35A2-CDG" "non-obstructive coronary artery disease" - "double-stranded RNA-binding protein Staufen homolog 2" "obsolete_dystrophic epidermolysis bullosa pruriginosa" + "double-stranded RNA-binding protein Staufen homolog 2" "hypomyelination with brain stem and spinal cord involvement and leg spasticity" "NOME-Seq" "laryngeal neoplasm" @@ -22541,8 +22542,8 @@ "GM14408" "obsolete_isolated encephalocele" "MARVEL domain-containing protein 2" - "Split hand-split foot malformation" "cytoplasmic vesicle membrane" + "Split hand-split foot malformation" "protein CIAO1" "obsolete multicellular organism aging" "MV4II" @@ -22702,12 +22703,12 @@ "obsolete_rhizomelic chondrodysplasia punctata type 2" "obsolete_congenital short bowel syndrome" "collagen alpha-1(I) chain" + "obsolete_seborrhea-like dermatitis with psoriasiform elements" "D04 cell" "Enchytraeus albidus" - "obsolete_seborrhea-like dermatitis with psoriasiform elements" + "MHH-NB-11" "central nervous system fibrosarcoma" "fallopian tube papillary adenocarcinoma" - "MHH-NB-11" "level of protein S100-A5 in blood serum" "Ichthyosis-hypotrichosis syndrome" "TP53-regulated inhibitor of apoptosis 1" @@ -22826,10 +22827,10 @@ "obsolete_mosaic trisomy 8" "openness measurement" "partial duplication of chromosome 8" + "obsolete_Tessier number 5 facial cleft" "C-X-C motif chemokine 11 measurement" "obsolete_endothelium" "SLC35A1-congenital disorder of glycosylation" - "obsolete_Tessier number 5 facial cleft" "Escherichia coli K-12" "margarate" "synaptonemal complex central element protein 1-like" @@ -22900,10 +22901,10 @@ "phosphatidylinositol 3-kinase catalytic subunit type 3" "autosomal recessive spinocerebellar ataxia 15" "syntaxin-1B measurement" - "DN1 thymic pro-T cell" "right atrial fractional area change measurement"@en - "derlin-1" + "DN1 thymic pro-T cell" "neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures" + "derlin-1" "postaxial polydactyly type A, unilateral" "obsolete_polydactyly of a biphalangeal thumb" "level of twinfilin-1 in blood serum" @@ -22961,9 +22962,9 @@ "level of WW domain-binding protein 2 in blood serum" "RMUG-S" "melanocortin-2 receptor accessory protein measurement" + "obsolete_WAGR syndrome" "RERF-LC-AI" "U-178MG" - "obsolete_WAGR syndrome" "level of E3 ubiquitin-protein ligase RNF146 in blood serum" "Familial drusen" "autosomal dominant nonsyndromic hearing loss 1" @@ -23011,13 +23012,13 @@ "level of nodal modulator 2 in blood serum" "GM12146" "neuronal acetylcholine receptor subunit alpha-5" - "leg injury" "cutaneous adenocystic carcinoma" "level of FAS-associated factor 2 in blood serum" "level of myosin light chain 1/3, skeletal muscle isoform in blood" "colorectal cancer, susceptibility to, 1" "embryonic proventriculus outer layer" "level of spindlin-3 in blood serum" + "leg injury" "opioid dependence" "obsolete autosomal recessive axonal hereditary motor and sensory neuropathy" "hyperpigmentation with or without hypopigmentation, familial progressive" @@ -23038,9 +23039,9 @@ "t-box transcription factor TBX22 measurement" "small intestine serosal dendritic cell" "mercury dichloride" + "stabilin-1 measurement" "dasatinib (anhydrous)" "cataract 46 juvenile-onset" - "stabilin-1 measurement" "obsolete_Charlie M syndrome" "neuronal ceroid lipofuscinosis 7" "obsolete_oblique facial cleft" @@ -23098,8 +23099,8 @@ "carbonic anhydrase 12" "autoimmune pancreatitis" "benign neoplasm of pericardium" - "cell death" "junction plakoglobin" + "cell death" "obsolete congenital myotonia" "Central scotoma" "hyperdibasic aminoaciduria type 1" @@ -23116,8 +23117,8 @@ "level of tyrosine-protein phosphatase non-receptor type 7 in blood serum" "extracellular tyrosine-protein kinase PKDCC" "level of endothelin-3 in blood serum" - "3T6-Swiss albino cell" "5-HEPE measurement" + "3T6-Swiss albino cell" "Ile-Gly" "obsolete_palpebral lentiginosis" "Gr1-low non-classical monocyte" @@ -23131,10 +23132,10 @@ "obsolete_mitochondrial DNA depletion syndrome, myopathic form" "ulnar/fibula ray defect-brachydactyly syndrome" "level of deleted in malignant brain tumors 1 protein in blood serum" - "aortic malformation" "organic heterocyclic compound" "level of collagen alpha-1(XVIII) chain in blood" "Absent pubic hair" + "aortic malformation" "autonomic neuropathy" "Gossypium arboreum" "blue rubber bleb nevus" @@ -23270,8 +23271,8 @@ "gamma-Glu-Val" "WAP, Kazal, immunoglobulin, Kunitz and NTR domain-containing protein 2 measurement" "level of syntaxin-16 in blood" - "obsolete_RFT1-CDG" "Hypoglossia - hypodactyly" + "obsolete_RFT1-CDG" "autosomal dominant titinopathy" "CS57705" "Low alkaline phosphatase" @@ -23283,11 +23284,11 @@ "obsolete_fine-Lubinsky syndrome" "pain agnosia" "X-03088 measurement" + "NS-seq" "interferon-inducible protein AIM2" "vegetative shoot apex" - "Duane-radial ray syndrome" - "NS-seq" "galanin-like peptide" + "Duane-radial ray syndrome" "beta-1,4-galactosyltransferase 6" "nucleobindin-1" "CE(22:6)" @@ -23444,18 +23445,18 @@ "Biliary atresia" "Rare pervasive developmental disorder" "obsolete_hereditary angioedema type 1" + "obsolete_otomandibular dysplasia" "GM00144" "Austrofundulus limnaeus" - "obsolete_otomandibular dysplasia" "Abnormal occipital bone morphology" "congenital muscular dystrophy with cerebellar involvement" "neurexin-3-beta measurement" "mammalian vulva" "Rare male infertility due to adrenal disorder of genetic origin" - "isoursodeoxycholate sulfate (2) measurement" - "transforming growth factor-alpha measurement" "hypopigmentation of the skin" + "isoursodeoxycholate sulfate (2) measurement" "CAL62" + "transforming growth factor-alpha measurement" "apolipoprotein E measurement" "obsolete_ventral hyoid arch" "anhedonia measurement" @@ -23478,9 +23479,9 @@ "malignant tumor of parathyroid gland" "stromal cell-derived factor 2" "dissociation measurement" + "frozen shoulder" "monosomy 7 myelodysplasia and leukemia syndrome 1" "carboxypeptidase A2 measurement" - "frozen shoulder" "leucine-rich repeat LGI family member 3 measurement" "tropanyl 3,5-dimethylbenzoate" "macrocephaly-spastic paraplegia-dysmorphism syndrome" @@ -23585,11 +23586,11 @@ "obsolete_vagus nerve" "Escherichia coli O157:H7" "centrin-2" - "trypsinogen deficiency" "mucin‐16 measurement"@en + "trypsinogen deficiency" "formin-like protein 1" - "ETS translocation variant 2" "autosomal dominant spastic paraplegia type 9" + "ETS translocation variant 2" "Endosteal sclerosis - cerebellar hypoplasia" "idiopathic anaphylaxis" "brucellosis" @@ -23618,8 +23619,8 @@ "Pallister-W syndrome" "visuospatial impairment" "fibrosarcoma" - "obsolete_short stature-heart defect-craniofacial anomalies syndrome" "obsolete genetic transient congenital hypothyroidism" + "obsolete_short stature-heart defect-craniofacial anomalies syndrome" "nanogram per liter" "level of myomesin-3 in blood serum" "U8 snoRNA-decapping enzyme" @@ -23650,8 +23651,8 @@ "Aedes albopictus" "syntaxin-6 measurement" "urgency urinary incontinence" - "insect dorsal imaginal precursor" "naive thymus-derived CD4-positive, alpha-beta T cell" + "insect dorsal imaginal precursor" "454 GS sequencer" "postaxial polydactyly type A, bilateral" "immunodeficiency 72 with autoinflammation" @@ -23675,8 +23676,8 @@ "neurofibromatosis type 2" "level of forkhead box protein O3 in blood serum" "exercise" - "Dysostosis with limb and face anomalies as a major feature" "acquired factor X deficiency" + "Dysostosis with limb and face anomalies as a major feature" "neuroinflammatory disorder"@en "olfactory epithelium" "RTS3b" @@ -23723,8 +23724,8 @@ "obsolete_Gollop-Wolfgang complex" "4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT5" "Streptococcus pseudopneumoniae" - "benign recurrent intrahepatic cholestasis type 1" "90C" + "benign recurrent intrahepatic cholestasis type 1" "Pinus radiata" "level of fumarylacetoacetase in blood serum" "level of E3 ubiquitin-protein ligase RNF149 in blood serum" @@ -23754,11 +23755,11 @@ "lymph node tuberculosis" "trait in response to Triptolide" "spinocerebellar ataxia type 6" + "Flavivirus Infections" "gallstones" "response to cold" "AKR-2B" "level of phosphopantothenate--cysteine ligase in blood serum" - "Flavivirus Infections" "immature CD14-positive dermal dendritic cell" "level of serine/arginine-rich splicing factor 7 in blood serum" "phosphatidylcholine 40:1" @@ -23844,8 +23845,8 @@ "minocycline" "translin" "obsolete_primary bone dysplasia with increased bone density" - "obsolete_Hernández-Aguirre Negrete syndrome" "obsolete_lung" + "obsolete_Hernández-Aguirre Negrete syndrome" "LIM domain-containing protein 1" "Vibrio harveyi ATCC BAA-1116" "cellular tumor antigen p53" @@ -23987,8 +23988,8 @@ "obsolete_Amelia" "level of glucose-fructose oxidoreductase domain-containing protein 2 in blood" "lymphocyte antigen 6 complex locus protein G6d" - "Anaplastic Large Cell Lymphoma, ALK-Negative" "herpes simplex encephalitis, susceptibility to, 4" + "Anaplastic Large Cell Lymphoma, ALK-Negative" "response to methotrexate" "superficial mycosis" "childhood malignant kidney neoplasm" @@ -24055,8 +24056,8 @@ "skin hydration measurement" "obsolete_distal trisomy 3p" "vulva fibroepithelial polyp" - "homocysteine metabolic process" "Ruvalcaba syndrome" + "homocysteine metabolic process" "obsolete_DOORS syndrome" "citrate(3-)" "Langerhans cell" @@ -24128,8 +24129,8 @@ "obsolete_mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency" "Theiler stage 27" "sphingomyelin (d18:1/20:2, d18:2/20:1, d16:1/22:2) measurement" - "esophageal small cell neuroendocrine carcinoma" "nonsyndromic congenital nail disorder 1" + "esophageal small cell neuroendocrine carcinoma" "level of Rab GTPase-binding effector protein 1 in blood" "NSCR" "beta-1,4-galactosyltransferase 7" @@ -24144,9 +24145,9 @@ "liver CD103-positive dendritic cell" "severe hypophosphatasia" "obsolete_polymorphonuclear leukocyte" - "X-linked lymphoproliferative disease" "erythrocyte" "collagen alpha-1(XXIII) chain measurement" + "X-linked lymphoproliferative disease" "NALM1" "Silverman-Handmaker type dyssegmental dysplasia" "artesunate" @@ -24272,9 +24273,9 @@ "GM12717" "thymic neuroendocrine carcinoma" "level of eukaryotic-type phenylalanine--tRNA ligase alpha subunit in blood" + "obsolete_hypotrichosis simplex" "X-linked intellectual disability-cubitus valgus-dysmorphism syndrome" "p53 and DNA damage-regulated protein 1" - "obsolete_hypotrichosis simplex" "phosphatidylcholine acyl-alkyl C40:4 measurement" "t-tau:beta-amyloid 1-42 ratio measurement" "ataxia-pancytopenia syndrome" @@ -24341,9 +24342,9 @@ "nucleophosmin" "group IIe secretory phospholipase A2 measurement" "Hepatic fibrosis - renal cysts - intellectual disability" + "alcoholic neuropathy" "biliary liver cirrhosis" "aganglionosis, total intestinal" - "alcoholic neuropathy" "X-22775 measurement" "Rho GDP-dissociation inhibitor 2" "stavudine" @@ -24412,9 +24413,9 @@ "endometrial endometrioid adenocarcinoma, variant with squamous differentiation" "129P3/J"@en "RN33B" + "level of surfactant-associated protein 2 in blood serum" "pancreatic mucinous cystadenoma" "mature CD14-positive dermal dendritic cell" - "level of surfactant-associated protein 2 in blood serum" "segmentation 5-9 somites" "odontotrichomelic syndrome" "Autosomal dominant deafness-onychodystrophy syndrome" @@ -24462,8 +24463,8 @@ "level of arginase-2, mitochondrial in blood serum" "CS57727" "lymphangitis" - "Hypertriglyceridemia" "brachial artery" + "Hypertriglyceridemia" "early-onset parkinsonism-intellectual disability syndrome" "level of liprin-alpha-1 in blood serum" "loxoprofen" @@ -24485,8 +24486,8 @@ "docosahexaenoic acid measurement" "GM14432" "lipoteichoic acid" - "Genetic syndromic esophageal malformation" "endoplasmic reticulum" + "Genetic syndromic esophageal malformation" "Insulinogenic index measurement" "Ixodes scapularis" "level of butyrophilin subfamily 1 member A1 in blood serum" @@ -24512,8 +24513,8 @@ "level of teneurin-3 in blood serum" "Neisseria" "augurin" - "complexin-3" "squamous epithelial cell" + "complexin-3" "obsolete_Infantile hypophosphatasia" "level of receptor-type tyrosine-protein phosphatase delta in blood serum" "hypoxanthine measurement"@en @@ -24532,14 +24533,14 @@ "obsolete_familial sick sinus syndrome" "obsolete_Trichophyton megninii" "Xeroderma pigmentosum complementation group F" - "pneumocystosis" + "staphylococcus seropositivity" "social domain measurement" + "pneumocystosis" + "level of phytanoyl-CoA dioxygenase, peroxisomal in blood serum" "GPR143-related foveal hypoplasia" "epidermal nevus syndrome" "ezrin" - "level of phytanoyl-CoA dioxygenase, peroxisomal in blood serum" "twisted gastrulation protein homolog 1" - "staphylococcus seropositivity" "alpha-crystallinopathy" "SD" "hypertensive heart disease" @@ -24600,11 +24601,11 @@ "Autosomal recessive spastic paraplegia type 25" "Ara-C-resistant murine leukemia" "phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform measurement" - "progesterone-receptor positive breast cancer" "hydranencephaly" + "progesterone-receptor positive breast cancer" "level of period circadian protein homolog 3 in blood" - "level of bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in blood serum" "DNA-directed RNA polymerases I, II, and III subunit RPABC1" + "level of bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase in blood serum" "serpinopathy" "Clostridium beijerinckii" "level of protein-glutamine gamma-glutamyltransferase K in blood serum" @@ -24623,11 +24624,11 @@ "level of collagen type II alpha chain in blood serum" "intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly" "GM17235" - "Otitis media" "obsolete_pancreas primordium" "obsolete visceral malformation of the liver, biliary tract, pancreas or spleen" "inflammatory diarrhea" "level of kelch-like protein 7 in blood serum" + "Otitis media" "aortic malignant tumor" "MOMO syndrome" "obsolete_avascular necrosis of genetic origin" @@ -24672,6 +24673,7 @@ "otodental syndrome" "Angioleiomyoma" "Familial renal amyloidosis due to fibrinogen A alpha-chain variant" + "obsolete_brain dopamine-serotonin vesicular transport disease" "obsolete_congenital achiasma" "level of collagen alpha-2(XI) chain in blood serum" "3-ketoacyl-CoA thiolase, peroxisomal" @@ -24680,7 +24682,6 @@ "obstructive hydrocephalus" "Birt-Hogg-Dube syndrome" "cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism" - "obsolete_brain dopamine-serotonin vesicular transport disease" "energy intake measurement" "prostate carcinoma" "obsolete_hyper-IgM syndrome type 5" @@ -24694,8 +24695,8 @@ "Metabolic disease due to other fatty acid oxidation disorder" "peroxisome biogenesis disorder, complementation group 7"@en "obsolete_bone of lower extremity" - "insulin-resistance syndrome type A" "Familial cold urticaria" + "insulin-resistance syndrome type A" "primary biliary cirrhosis" "prolylproline measurement" "Smith-McCort dysplasia 1" @@ -24798,8 +24799,8 @@ "carbohydrate derivative biosynthetic process" "oculodental syndrome, Rutherfurd type" "qualitative or quantitative defects of alphaB-cristallin" - "NKG2-A/NKG2-B type II integral membrane protein" "obsolete_punctate palmoplantar keratoderma type 1" + "NKG2-A/NKG2-B type II integral membrane protein" "obsolete_bulbus arteriosus" "21q22.11q22.12 microdeletion syndrome" "plastid" @@ -24836,8 +24837,8 @@ "obsolete_Popov-Chang syndrome" "brain meninx" "maple syrup urine disease" - "mediastinal lymph node" "5-hydroxylysine" + "mediastinal lymph node" "congenital neutropenia-myelofibrosis-nephromegaly syndrome" "nail-patella syndrome" "phenylacetylcarnitine measurement" @@ -24847,8 +24848,8 @@ "adenosquamous lung carcinoma" "uroporphyrinogen-III synthase" "ran-binding protein 3 measurement" - "level of cholesterol ester 16:0 in blood" "46,XY sex reversal 1" + "level of cholesterol ester 16:0 in blood" "obsolete_periventricular nodular heterotopia" "obsolete_maternally-inherited progressive external ophthalmoplegia" "obsolete_ichthyosis-cheek-eyebrow syndrome" @@ -24860,9 +24861,9 @@ "Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies" "thioredoxin reductase 1, cytoplasmic measurement" "microfibrillar-associated protein 2" - "Col-3" "obsolete_otic lateral line neuromast" "NALM6" + "Col-3" "level of fibroblast growth factor 3 in blood serum" "ADP-ribosylation factor-binding protein GGA1" "lissencephaly with cerebellar hypoplasia type E" @@ -25028,8 +25029,8 @@ "T1 tumor stage" "transforming acidic coiled-coil-containing protein 3" "SLIT and NTRK-like protein 2" - "AG07307" "draxin" + "AG07307" "uterine ligament" "meningeal neoplasm" "level of Sterol ester (27:1/20:2) in blood serum" @@ -25061,9 +25062,9 @@ "level of golgin subfamily A member 3 in blood" "Abnormal calvaria morphology" "regulation of digestive system process" - "obsolete_spondylocamptodactyly syndrome" "response to paracetamol" "D-dopachrome decarboxylase" + "obsolete_spondylocamptodactyly syndrome" "multiple benign circumferential skin creases on limbs 1" "material sample" "level of pikachurin in blood serum" @@ -25134,9 +25135,9 @@ "level of membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 in blood serum" "obsolete_mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency" "translation machinery-associated protein 16" - "Salivary Gland Acinic Cell Carcinoma" "level of RING finger protein 24 in blood serum" "aldehyde dehydrogenase, dimeric NADP-preferring" + "Salivary Gland Acinic Cell Carcinoma" "X-11452 measurement" "obsolete_infantile-onset autosomal recessive nonprogressive cerebellar ataxia" "gamma-crystallin C" @@ -25163,9 +25164,9 @@ "spinocerebellar ataxia type 35" "obsolete_Hypermethioninemia encephalopathy due to adenosine kinase deficiency" "oculocutaneous albinism type 5" - "Autosomal recessive spastic paraplegia type 62" "benign neoplasm of peripheral nervous system" "hyperprolinemia type 2" + "Autosomal recessive spastic paraplegia type 62" "protein phosphatase 1L measurement" "obsolete_response to tetracyclic antidepressant" "obsolete_Graham Little-Piccardi-Lassueur syndrome" @@ -25216,8 +25217,8 @@ "urinary system neoplasm" "color vision disorder" "caffeic acid sulfate measurement" - "ventral imaginal tissue" "ADP-ribosylhydrolase ARH3" + "ventral imaginal tissue" "nephronectin" "OSS" "outer mitochondrial transmembrane helix translocase" @@ -25240,10 +25241,10 @@ "obsolete_esophageal malformation" "perception of facial expression" "transmembrane protein 225B (human)" - "Au-Kline syndrome" "Syndrome with disorder of sex development of gynecological interest" - "level of thioredoxin in blood serum" + "Au-Kline syndrome" "transcription factor AP-1 measurement" + "level of thioredoxin in blood serum" "level of teneurin-4 in blood serum" "Neisseria cinerea" "Glomerulonephritis" @@ -25388,15 +25389,15 @@ "feeling miserable measurement" "response to placebo" "autosomal dominant cataract" - "Rare constitutional hemolytic anemia" "level of receptor-type tyrosine-protein phosphatase H in blood serum" + "Rare constitutional hemolytic anemia" "Angiolipoma" "indole-3-propionate measurement"@en - "negative regulation of saliva secretion" "hair shaft" + "negative regulation of saliva secretion" "probable global transcription activator SNF2L2" - "level of collagen alpha-1(XIII) chain in blood serum" "malignant hypertension" + "level of collagen alpha-1(XIII) chain in blood serum" "level of elongation factor 1-alpha 1 in blood serum" "autosomal recessive Emery-Dreifuss muscular dystrophy" "184-hTERT" @@ -25415,21 +25416,21 @@ "cell population proliferation" "minute" "Genetic obesity" + "streptococcus seropositivity" + "presynaptic congenital myasthenic syndrome" "COV644" "Lactic acidosis" - "presynaptic congenital myasthenic syndrome" "SD minus nitrogen" "testis sarcoma" - "streptococcus seropositivity" "syntaxin-12" "transmembrane protein PVRIG" "LP.10 ten leaves visible stage" + "Primary bone dysplasia with decreased bone density" "remission" "N-cinnamoylglycine" "chickenpox" "level of ubiquitin thioesterase otulin in blood serum" "ulnar hypoplasia-split foot syndrome" - "Primary bone dysplasia with decreased bone density" "obsolete_spiracle" "obsolete congenital intestinal transport defect" "level of carboxypeptidase Q in blood serum" @@ -25552,11 +25553,11 @@ "Treponema pallidum" "obsolete_syndromic aniridia" "Theiler stage 1" - "secondary biliary cirrhosis" "glottis verrucous carcinoma" "Gephyrocapsa oceanica" "Marden-Walker syndrome" "acquired ichthyosis" + "secondary biliary cirrhosis" "intellectual disability-strabismus syndrome" "megakaryocyte-associated tyrosine-protein kinase measurement" "skeletal muscle tissue" @@ -25567,14 +25568,14 @@ "umbilical artery" "Combined hyperlipidemia" "obsolete_Prata-Liberal-Goncalves syndrome" - "Bloom syndrome" "neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities" + "Bloom syndrome" "tetratricopeptide repeat protein 33" "obsolete_carnitine palmitoyl transferase II deficiency, severe infantile form" "rap guanine nucleotide exchange factor 5 measurement" "obsolete_mitochondrial DNA deletion syndrome with progressive myopathy" - "obsolete_Ornithine transcarbamylase deficiency"@en "Delayed gross motor development" + "obsolete_Ornithine transcarbamylase deficiency"@en "ICF syndrome" "iminodiacetate (IDA) measurement" "pregnenolone sulfate" @@ -25624,9 +25625,9 @@ "(2-hydroxyphenyl)acetate" "SERKAL syndrome" "rhombomere 1" - "gait apraxia" "carboxypeptidase M measurement" "level of choriogonadotropin subunit beta in blood serum" + "gait apraxia" "obsolete_distal 7q11.23 microdeletion syndrome" "level of hydroxysteroid dehydrogenase-like protein 2 in blood serum" "X-linked intellectual disability - cubitus valgus - dysmorphism" @@ -25642,9 +25643,9 @@ "level of selenoprotein W in blood serum" "P5CS deficiency" "obsolete_Marshall syndrome" + "A/J" "obsolete_neck" "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2" - "A/J" "Saccharomyces pastorianus Weihenstephan 34/70" "Atelis syndrome 2" "thrombocytopenia-absent radius syndrome" @@ -25664,8 +25665,8 @@ "pancreatic neuroendocrine tumor G1" "upstream stimulatory factor 2" "distal 22q11.2 microduplication syndrome" - "proplastid" "1-(1-enyl-palmitoyl)-2-palmitoyl-GPC (P-16:0/16:0) measurement" + "proplastid" "complement factor H-related protein 2 measurement" "sulfotransferase 6B1" "bringing up phlegm, sputum or mucus on most days, self-reported" @@ -25676,8 +25677,8 @@ "protein DEPP measurement" "level of tomoregulin-1 in blood serum" "level of histone RNA hairpin-binding protein in blood serum" - "health-related quality of life measurement"@en "Landsberg ecotype" + "health-related quality of life measurement"@en "encephalopathy, progressive, early-onset, with episodic rhabdomyolysis" "X-12730 measurement" "hematopoietic and lymphoid cell neoplasm" @@ -25841,8 +25842,8 @@ "CD4-positive T-lymphocyte count" "Granulocytopenia" "Deafness - encephaloneuropathy - obesity - valvulopathy" - "progonadoliberin-1" "alpha-crystallin A chain measurement" + "progonadoliberin-1" "putative adhesion G protein-coupled receptor F2P" "GM17806" "glycerophosphocholine phosphodiesterase GPCPD1" @@ -25888,8 +25889,8 @@ "2,3,7,8-tetrachlorodibenzodioxine" "C-glycosyltryptophan-to-succinylcarnitine ratio" "arthrogryposis-renal dysfunction-cholestasis syndrome" - "obsolete_keratoconjunctivitis sicca" "level of clathrin interactor 1 in blood serum" + "obsolete_keratoconjunctivitis sicca" "carotid body" "obsolete_somatic nervous system" "Disorder of cobalamin metabolism and transport" @@ -25920,8 +25921,8 @@ "level of BTB/POZ domain-containing protein KCTD2 in blood serum" "future internal carotid artery" "LysoPA 16:0 measurement" - "bipolar I disorder" "Amniotic bands" + "bipolar I disorder" "Talipes cavus equinovarus" "permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome" "level of Golgi-associated PDZ and coiled-coil motif-containing protein in blood" @@ -26079,8 +26080,8 @@ "Warsaw breakage syndrome" "obsolete_ductal adenocarcinoma" "1-(1-enyl-stearoyl)-2-oleoyl-GPC (P-18:0/18:1) measurement" - "congenital bilateral aplasia of vas deferens from CFTR mutation" "polyphosphoinositide phosphatase" + "congenital bilateral aplasia of vas deferens from CFTR mutation" "vasa recta" "obsolete_regenerating fin" "level of peptidyl-prolyl cis-trans isomerase G in blood serum" @@ -26101,9 +26102,9 @@ "inborn errors of metabolism" "X-12261 measurement" "biotin metabolic disease" + "inosine-5'-monophosphate dehydrogenase 1 measurement" "PDZ domain-containing protein GIPC3" "NCI-H1563" - "inosine-5'-monophosphate dehydrogenase 1 measurement" "pineal body neoplasm" "hyperuricemia" "diabetes mellitus, transient neonatal, 3" @@ -26216,14 +26217,14 @@ "BHP5-16" "benign colon neoplasm" "pneumonic plague" - "level of kallikrein-15 in blood serum" "lumbar disc degeneration" + "level of kallikrein-15 in blood serum" "Intellectual disability-developmental delay-contractures syndrome" "isobutyryl-CoA dehydrogenase, mitochondrial" "otic placode" "familial mesial temporal lobe epilepsy with febrile seizures" - "level of chromodomain Y-like protein 2 in blood serum" "tumor necrosis factor receptor superfamily member 1A measurement" + "level of chromodomain Y-like protein 2 in blood serum" "duplication of the pituitary gland" "response to tafenoquine"@en "hyperphenylalaninemia due to DNAJC12 deficiency" @@ -26244,8 +26245,8 @@ "Isonicotinamide measurement" "4-hydroxyphenylacetylglutamine measurement" "apoptotic protease-activating factor 1" - "hemorrhagic cystitis" "glutaredoxin-like protein C5orf63 measurement" + "hemorrhagic cystitis" "level of carboxypeptidase B in blood serum" "bronchiolitis" "obsolete_mucolipidosis" @@ -26262,14 +26263,14 @@ "nmrA-like family domain-containing protein 1 measurement" "Col-5" "azinomycin B" - "Angiomatous Meningioma" "otofaciocervical syndrome" + "Angiomatous Meningioma" "ADP-ribosylation factor-binding protein GGA3" "serine/threonine-protein kinase Chk1 measurement" "optic choroid disorder" "1-dihomo-linoleoylglycerol (20:2) measurement" - "Set1/Ash2 histone methyltransferase complex subunit ASH2" "glyburide" + "Set1/Ash2 histone methyltransferase complex subunit ASH2" "level of Ras/Rap GTPase-activating protein SynGAP in blood" "level of serine/threonine-protein kinase Nek7 in blood serum" "familial cold autoinflammatory syndrome 4" @@ -26296,8 +26297,8 @@ "post-operative fentanyl consumption measurement" "blue diaper syndrome" "interferon gamma" - "hypomyelinating leukodystrophy 9" "Posterior column ataxia - retinitis pigmentosa" + "hypomyelinating leukodystrophy 9" "Ureaplasma parvum" "thrombus formation measurement" "miniARS-seq" @@ -26363,14 +26364,14 @@ "spondyloepimetaphyseal dysplasia-hypotrichosis syndrome" "cell" "Subcutaneous hemorrhage" + "obsolete_Marshall-Smith syndrome" + "hidradenitis suppurativa" "CHO-IR" "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" "squamous cell carcinoma of liver and intrahepatic biliary tract" - "obsolete_Marshall-Smith syndrome" - "hidradenitis suppurativa" + "linolenoylcarnitine (C18:3) measurement" "B6.Cg-Tg(SOD1-G93A)1Gur/J" "congenital thrombotic thrombocytopenic purpura" - "linolenoylcarnitine (C18:3) measurement" "apolipoprotein C-I" "cAMP-dependent protein kinase type I-alpha regulatory subunit" "Chiari malformation" @@ -26391,9 +26392,9 @@ "obsolete_atrial septal defect, ostium secundum type" "Cucurbita maxima" "formylglycine-generating enzyme" - "obsolete_mosaic trisomy 20" "level of alpha-N-acetylglucosaminidase in blood serum" "sign or symptom concerning food and fluid intake" + "obsolete_mosaic trisomy 20" "spontaneous mutation" "calcium uptake protein 2, mitochondrial" "Ritscher-Schinzel syndrome 1" @@ -26439,8 +26440,8 @@ "obsolete_adipose tissue MMHCC" "biliary, renal, neurologic, and skeletal syndrome" "level of laminin subunit alpha-4 in blood serum" - "Ichthyosis - alopecia - eclabion - ectropion - intellectual disability" "Genetic gynecological tumor" + "Ichthyosis - alopecia - eclabion - ectropion - intellectual disability" "level of complement C1q-like protein 2 in blood serum" "vitelliform macular dystrophy 4" "nasal cavity carcinoma" @@ -26485,8 +26486,8 @@ "RKOE6" "X-linked chondrodysplasia punctata" "dipeptidase 2 measurement" - "obsolete_familial multiple trichoepithelioma" "Progressive myoclonic epilepsy" + "obsolete_familial multiple trichoepithelioma" "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" "spastic paraparesis-deafness syndrome" "Myokymia" @@ -26520,8 +26521,8 @@ "lithium chloride" "level of 5-hydroxy-6,8,11,14-eicosatetraenoic acid in blood plasma" "dislocation" - "ND01173" "autosomal recessive hyperinsulinism due to Kir6.2 deficiency" + "ND01173" "GM12871" "experimental cell" "obsolete_Loeys-Dietz syndrome" @@ -26559,13 +26560,13 @@ "Staphylococcus aureus subsp. aureus Mu50" "obsolete_Irish" "SH2 domain-containing adapter protein D" - "potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1" "obsolete_camptodactyly syndrome, Guadalajara type 2" + "potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1" "Salivary Gland Basal Cell Adenocarcinoma" "CD3-positive T-lymphocyte count" "Arthrogryposis - renal dysfunction - cholestasis" - "Xanthomonas oryzae pv. oryzicola BLS256" "obsolete_distal arthrogryposis type 10" + "Xanthomonas oryzae pv. oryzicola BLS256" "Youcai mosaic virus" "progonadoliberin-2" "alpha-internexin measurement" @@ -26602,8 +26603,8 @@ "obsolete_response to diclofenac" "homocystinuria" "metastatic prostate cancer" - "Neurospora tetrasperma" "aprataxin" + "Neurospora tetrasperma" "level of protein FAM177A1 in blood serum" "dihydropyrimidinase-related protein 3 measurement" "stromal corneal dystrophy" @@ -26651,8 +26652,8 @@ "Aegilops tauschii subsp. strangulata" "disks large-associated protein 5" "obsolete_scapula" - "autoimmune type 1 diabetes" "respiratory system neoplasm" + "autoimmune type 1 diabetes" "benign soft tissue neoplasm" "obsolete_Korean" "level of EEF1A lysine methyltransferase 1 in blood serum" @@ -26678,8 +26679,8 @@ "CINCA syndrome" "zyxin" "sarcosine dehydrogenase activity" - "geranylgeranyl pyrophosphate synthase" "NCI-N87" + "geranylgeranyl pyrophosphate synthase" "response to candesartan" "Pleural Mesothelioma" "level of egl nine homolog 1 in blood serum" @@ -26706,8 +26707,8 @@ "Kury-Isidor syndrome" "level of complement receptor type 2 in blood" "transmembrane protease serine 6" - "osteoarthritis, hand" "congenital radioulnar synostosis" + "osteoarthritis, hand" "Recurrent hand flapping" "mucolipidosis type III, alpha/beta" "response to antibiotic" @@ -26760,8 +26761,8 @@ "N-acetylisoleucine measurement" "protein FAM3C" "cytotoxic t-lymphocyte protein 4 measurement" - "Atherosclerosis - deafness - diabetes - epilepsy - nephropathy" "cysteine-rich with EGF-like domain protein 1 measurement" + "Atherosclerosis - deafness - diabetes - epilepsy - nephropathy" "urea cycle disorder" "level of CD320 molecule in blood serum" "GTPase IMAP family member 6" @@ -26835,10 +26836,10 @@ "Familial amyloidosis, Finnish type" "level of cholinesterase in blood" "obsolete_oculootodental syndrome" - "1-(1-enyl-stearoyl)-2-arachidonoyl-GPC (P-18:0/20:4) measurement" "Macular degeneration" - "alpha-hydroxyisovalerate measurement" + "1-(1-enyl-stearoyl)-2-arachidonoyl-GPC (P-18:0/20:4) measurement" "RING-type E3 ubiquitin-protein ligase PPIL2" + "alpha-hydroxyisovalerate measurement" "level of pituitary adenylate cyclase-activating polypeptide in blood serum" "obsolete_blastema" "cardiovascular age measurement"@en @@ -27051,9 +27052,9 @@ "Localized epidermolysis bullosa simplex" "obsolete_Proximal spinal muscular atrophy type 1" "3-methylglutaconic aciduria type 3" + "Intellectual disability - alacrima - achalasia" "cytoplasmic dynein 1 light intermediate chain 2" "cervical squamous intraepithelial neoplasia" - "Intellectual disability - alacrima - achalasia" "level of glucosamine-6-phosphate isomerase 1 in blood serum" "Ulbright-Hodes syndrome" "obsolete_embryonic foregut sensory structure" @@ -27179,8 +27180,8 @@ "GM1 gangliosidosis type 2" "trichilemmal cyst" "fundus albipunctatus" - "level of sulfotransferase 1B1 in blood serum" "transcriptional repressor CTCF" + "level of sulfotransferase 1B1 in blood serum" "Charcot-Marie-Tooth disease type 4C" "RL" "level of RNA-binding protein with multiple splicing 2 in blood" @@ -27203,8 +27204,8 @@ "triacylglycerol 54:0 measurement" "NCI-H1048" "casein kinase I isoform gamma-2 measurement" - "obsolete_Braddock syndrome" "Phenylacetyl-L-glutamine measurement" + "obsolete_Braddock syndrome" "polyunsaturated fatty acids to total fatty acids percentage " "obsolete_head visceral muscle primordium" "atrioventricular septal defect 5" @@ -27298,21 +27299,21 @@ "level of protein unc-45 homolog A in blood serum" "Ralstonia solanacearum" "level of 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 in blood" - "Increased intracranial pressure" "Malignancy in Giant Cell Tumor of Bone" + "Increased intracranial pressure" "X-11818 measurement" "corneal-cerebellar syndrome" "qualitative platelet defect" "transcobalamin II deficiency" "Endolymphatic Sac Tumor" - "obsolete_gynoecium" "secretoglobin family 1D member 2 measurement" + "obsolete_gynoecium" "ALys amyloidosis" "posterior corneal dystrophy" "resting heart rate" "obsolete_response to erlotinib" - "plant cell" "ariboflavinosis" + "plant cell" "level of cytokine-dependent hematopoietic cell linker in blood serum" "level of proteoglycan 3 in blood serum" "whole plant fruit ripening stage" @@ -27337,12 +27338,12 @@ "ankyloblepharon-ectodermal defects-cleft lip/palate syndrome" "Cryptorchidism - arachnodactyly - intellectual disability" "plant callus" - "diabetic encephalopathy" "dihydropyrimidinase-related protein 5 measurement" + "diabetic encephalopathy" + "LysoPC 16:0 measurement" "level of SH3 domain-binding glutamic acid-rich-like protein 2 in blood serum" "autosomal recessive dyskeratosis congenita 4" "sensory perception of sound" - "LysoPC 16:0 measurement" "Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly" "Nthy-ori 3-1" "Missing ribs" @@ -27375,14 +27376,14 @@ "Palmoplantar hyperhidrosis" "DnaJ homolog subfamily C member 11" "Townsend deprivation index" - "time unit" "obsolete_myotonia permanens" + "time unit" "cribriform carcinoma of breast" "interleukin-13 measurement" "3-hydroxydecanoylcarnitine measurement" + "leptomeninx" "transcription factor NF-E2 45 kDa subunit" "Deinococcus" - "leptomeninx" "fallopian tube transitional cell carcinoma" "obsolete_tonsil" "hyperinsulinism due to INSR deficiency" @@ -27496,11 +27497,11 @@ "lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial" "glycoprotein endo-alpha-1,2-mannosidase measurement" "cataract 34 multiple types" + "Leprechaunism" "Periorbital hyperpigmentation" "obsolete_Atkin-Flaitz syndrome" "maternal riboflavin deficiency" "syndromic X-linked intellectual disability 34" - "Leprechaunism" "mucinous carcinoma" "Standard Flowgram Format (SFF)" "obsolete_mammary gland" @@ -27517,15 +27518,15 @@ "eye color" "benign connective and soft tissue neoplasm" "level of transmembrane emp24 domain-containing protein 9 in blood serum" - "obsolete_Charcot-Marie-Tooth disease" "simian immunodeficiency virus infection" "blood copper measurement" "Brainstem dysplasia" "Lymphangiosarcoma" + "obsolete_Charcot-Marie-Tooth disease" "E3 ubiquitin-protein ligase HECW1 measurement" + "obsolete_atresia of small intestine" "level of target of Myb1 membrane trafficking protein in blood serum" "glucose-6-phosphatase activity" - "obsolete_atresia of small intestine" "actin filament-associated protein 1-like 1" "indoleamine 2,3-dioxygenase 1" "inherited mitral valve disease" @@ -27545,8 +27546,8 @@ "C-type natriuretic peptide" "cytochrome c oxidase subunit 6B1" "microspherophakia-metaphyseal dysplasia syndrome" - "nuclear nucleic acid-binding protein C1D measurement" "Dementia" + "nuclear nucleic acid-binding protein C1D measurement" "steroid biosynthetic process" "congenital limb malformation" "methionine catabolic process" @@ -27562,9 +27563,9 @@ "ribonucleoside-diphosphate reductase subunit M2 B measurement" "Salmonella enterica subsp. enterica serovar Agona" "distal symphalangism" + "Pleural Sarcomatoid Mesothelioma" "heat shock 70 kDa protein 1A measurement" "semaphorin-6A measurement" - "Pleural Sarcomatoid Mesothelioma" "nystagmus, congenital, autosomal recessive" "Stormorken-Sjaastad-Langslet syndrome" "obsolete_symbrachydactyly of hand and foot, unilateral" @@ -27575,8 +27576,8 @@ "level of bridging integrator 2 in blood" "AB SOLiD 5500xl" "cystatin-8" - "peptidyl-prolyl cis-trans isomerase-like 3" "isovalerylcarnitine (C5) measurement" + "peptidyl-prolyl cis-trans isomerase-like 3" "level of pituitary adenylate cyclase-activating polypeptide type I receptor in blood serum" "level of UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase 110 kDa subunit in blood serum" "Neisseria lactamica" @@ -27596,10 +27597,10 @@ "combined immunodeficiency due to partial RAG1 deficiency" "obsolete_bullous skin disease" "S3" - "cerebellum growth measurement" "cerebral artery stenosis" "protein FAM118A" "obsolete_presumptive neural plate" + "cerebellum growth measurement" "obsolete_genetic hyperparathyroidism" "muscular dystrophy-white matter spongiosis syndrome" "obstructive jaundice" @@ -27644,8 +27645,8 @@ "acetaldehyde" "ureter cancer" "obsolete_Teebi-Shaltout syndrome" - "obsolete_Walker-Warburg syndrome" "response to ribavirin" + "obsolete_Walker-Warburg syndrome" "lysophosphatidylcholine acyltransferase 2" "phosphatidylcholine 36:5 measurement"@en "cytoplasmic dynein 1 light intermediate chain 1" @@ -27671,11 +27672,11 @@ "cholesteatoma" "joint laxity, short stature, and myopia" "autoinflammatory disease, systemic, with vasculitis" + "obsolete_Wildervanck syndrome" "antimetabolite" - "Mycobacterium bovis BCG" "level of kallikrein-9 in blood serum" + "Mycobacterium bovis BCG" "level of ELKS/Rab6-interacting/CAST family member 1 in blood serum" - "obsolete_Wildervanck syndrome" "obsolete_autosomal dominant complex spastic paraplegia" "tumor susceptibility gene 101 protein measurement" "choroidal neovascularization" @@ -27709,8 +27710,8 @@ "rhombomere 6 floor plate" "genito-palato-cardiac syndrome" "obsolete_oculocutaneous albinism" - "Mayer-Rokitansky-Küster-Hauser syndrome type 2" "normal mucosa of esophagus-specific gene 1 protein measurement" + "Mayer-Rokitansky-Küster-Hauser syndrome type 2" "Penaeus monodon" "anserine measurement" "obsolete_Goldenhar syndrome" @@ -27779,8 +27780,8 @@ "pyroglutamine measurement" "rho guanine nucleotide exchange factor 2 measurement" "level of protein LYRIC in blood" - "cardiac valvular dysplasia, X-linked" "10q22.3q23.3 microduplication syndrome" + "cardiac valvular dysplasia, X-linked" "Bradycardia" "CD14-low, CD16-positive monocyte" "very-long-chain fatty acyl-CoA dehydrogenase activity" @@ -27869,8 +27870,8 @@ "distal trisomy 9q" "Tilarginine" "obsolete_Tietz syndrome" - "gamma-aminobutyric acid receptor subunit alpha-4" "extrahepatic bile duct leiomyosarcoma" + "gamma-aminobutyric acid receptor subunit alpha-4" "level of L-xylulose reductase in blood serum" "acquired Creutzfeldt-Jakob disease" "Marinesco-Sjogren syndrome" @@ -27892,8 +27893,8 @@ "high-grade astrocytoma with piloid features" "cataract - microcornea syndrome" "presumptive rhombomere 3" - "inflammatory macrophage" "p phenotype"@en + "inflammatory macrophage" "level of interferon regulatory factor 8 in blood serum" "microfibrillar-associated protein 5" "congenital absence of both lower leg and foot, unilateral" @@ -27978,8 +27979,8 @@ "spastic ataxia-corneal dystrophy syndrome" "acquired thrombocytopenia" "level of growth arrest-specific protein 2 in blood serum" - "developmental and epileptic encephalopathy 99" "Radius absent - anogenital anomalies" + "developmental and epileptic encephalopathy 99" "obsolete_head capsule" "Endometrial Clear Cell Adenocarcinoma" "AFib amyloidosis" @@ -28007,8 +28008,8 @@ "level of double-stranded RNA-binding protein Staufen homolog 2 in blood serum" "obsolete_zygodactyly type 3" "Dandy-Walker malformation-postaxial polydactyly syndrome" - "right ventricular stroke volume measurement"@en "level of trimeric intracellular cation channel type B in blood serum" + "right ventricular stroke volume measurement"@en "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4" "Autosomal recessive hyper-IgE syndrome" "cholestasis, progressive familial intrahepatic, 8" @@ -28044,26 +28045,26 @@ "PR segment" "lactase-like protein" "partial deletion of the long arm of chromosome 11" - "obsolete_hemolytic anemia due to pyrimidine 5' nucleotidase deficiency" "X-12465 measurement" "HEK-293H" - "interleukin-17C measurement" + "obsolete_hemolytic anemia due to pyrimidine 5' nucleotidase deficiency" "X-linked intellectual disability-cerebellar hypoplasia syndrome" "electric current unit" - "intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies" + "interleukin-17C measurement" "apocrine adenocarcinoma" "GM17111" "endoplasmic reticulum membrane sensor NFE2L1" "obsolete_root hair" - "tobacco smoke exposure measurement" + "intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies" "membrane protein FAM174A" "embryonic day 18.5" "juvenile vascular leaf" "proteasome subunit beta type-1" "lysosomal transport" "primary prostate urothelial carcinoma" - "level of Cer(m18:1(4E)/24:1(15Z)) in blood serum" + "tobacco smoke exposure measurement" "obsolete_trigeminal nerve" + "level of Cer(m18:1(4E)/24:1(15Z)) in blood serum" "zinc finger protein 41" "ubiquinone measurement" "myosin-binding protein C, slow-type" @@ -28081,18 +28082,18 @@ "synaptogyrin-3" "intellectual disability-epilepsy-extrapyramidal syndrome" "obsolete_preaxial polydactyly of fingers" - "obsolete_scalp-ear-nipple syndrome" "LN-308" - "Ureaplasma urealyticum urethritis" + "obsolete_scalp-ear-nipple syndrome" "level of defensin beta 118 in blood serum" + "Ureaplasma urealyticum urethritis" "inborn disorder of biogenic amine metabolism and transport" "microeinstein per square meter per second" "arthrogryposis-severe scoliosis syndrome" "level of phosphatidate phosphatase LPIN1 in blood serum" "level of eukaryotic translation initiation factor 4E in blood serum" "orofacial cleft 1" - "dihomo-gamma-linoleic acid measurement" "malonyl-CoA decarboxylase, mitochondrial measurement" + "dihomo-gamma-linoleic acid measurement" "hypolipoproteinemia" "Aggregatibacter actinomycetemcomitans" "sulfite oxidase activity" @@ -28121,9 +28122,9 @@ "neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies" "Acute tubulointerstitial nephritis" "obsolete_hereditary North American Indian childhood cirrhosis" + "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency" "level of TRAF family member-associated NF-kappa-B activator in blood serum" "erythritol" - "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency" "extra-adrenal sympathetic paraganglioma" "BICR 78" "Saccharomyces mikatae" @@ -28133,8 +28134,8 @@ "GM13977" "cholesterol:total lipids ratio"@en "krueppel-like factor 9" - "GM17814" "obsolete_DPM3-CDG" + "GM17814" "tetrasaccharide (glycogen, stachyose) measurement" "arylamine N-acetyltransferase 1 measurement" "focal segmental glomerulosclerosis 9" @@ -28196,8 +28197,8 @@ "ubiquinol-cytochrome-c reductase complex assembly factor 3 measurement" "level of DNA primase small subunit in blood serum" "alpha-N-acetylneuraminide alpha-2,8-sialyltransferase" - "e3 ubiquitin-protein ligase parkin measurement" "ototoxicity" + "e3 ubiquitin-protein ligase parkin measurement" "pleckstrin homology domain-containing family O member 2" "level of vacuolar protein sorting-associated protein 26A in blood serum" "Hyperplasia of the endometrium" @@ -28243,8 +28244,8 @@ "erucate (22:1n9) measurement" "vasomotor rhinitis" "level of cathepsin H in blood" - "interleukin-17D measurement" "infratentorial neoplasm" + "interleukin-17D measurement" "seprase measurement" "endonuclease 8-like 2" "blood chromium measurement" @@ -28302,16 +28303,16 @@ "economic and social preference" "methylmalonyl-CoA mutase, mitochondrial" "potential tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRMT61B" + "Disorder of tryptophan metabolism" "skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome" "vacuolar protein sorting-associated protein 26A" - "Disorder of tryptophan metabolism" "cotinine measurement" "splicing factor YJU2" "level of oncoprotein-induced transcript 3 protein in blood serum" "Neisseria meningitidis" "neurodevelopmental disorder with central hypotonia and dysmorphic facies" - "thymosin beta-10" "alverine measurement" + "thymosin beta-10" "syringomyelia" "Mazabraud syndrome" "integrin alpha-V" @@ -28371,8 +28372,8 @@ "X-17371 measurement" "obsolete_Tel Hashomer camptodactyly syndrome" "vesicular integral-membrane protein VIP36 measurement" - "obsolete_combined immunodeficiency due to MALT1 deficiency" "intestine" + "obsolete_combined immunodeficiency due to MALT1 deficiency" "Tomato spotted wilt virus" "Alnus glutinosa" "phosphatidylcholine 38:2 measurement"@en @@ -28383,9 +28384,9 @@ "level of phospholipase B-like 1 in blood serum" "Limb hypertonia" "pineal region germinoma" - "obsolete_larynx atresia" "brachyolmia" "level of phosphomannomutase 2 in blood serum" + "obsolete_larynx atresia" "serum VEGFR2 concentration measurement" "L-Proline to 3-Indolepropionic acid ratio" "congenital pseudoarthrosis of the tibia" @@ -28461,12 +28462,12 @@ "level of neudesin in blood serum" "intestinal epithelium" "photokeratitis" + "ocular hypertension" "interleukin-9 measurement" "WM-35"@en "X-12407 measurement" "melorheostosis with osteopoikilosis" "neurodevelopmental, jaw, eye, and digital syndrome" - "ocular hypertension" "obsolete uniparental disomy of chromosome X" "fundus of stomach" "uveal coloboma-cleft lip and palate-intellectual disability" @@ -28560,8 +28561,8 @@ "oligodendrocyte-myelin glycoprotein" "angiopoietin-1 receptor measurement"@en "GTP cyclohydrolase I deficiency with hyperphenylalaninemia" - "hypopigmentation of eyelid" "level of transcription regulator protein BACH2 in blood serum" + "hypopigmentation of eyelid" "sleep depth" "obsolete_focal, segmental or multifocal dystonia" "Hypertelorism, Teebi type" @@ -28666,18 +28667,18 @@ "metastatic carcinoma in the adrenal medulla" "lymphopenia" "ER membrane protein complex subunit 1" - "CD14-positive, CD16-positive monocyte" "obsolete_Alexander disease" + "CD14-positive, CD16-positive monocyte" "level of phosphoethanolamine/phosphocholine phosphatase in blood" "level of zinc finger protein 774 in blood serum" "uterine ligament cancer" "serine-type endopeptidase activity" - "obsolete_autosomal recessive cutis laxa type 1" "Nephrosis - deafness - urinary tract - digital malformations" "Elevated urinary delta-aminolevulinic acid" "HEK293" - "obsolete_Gorlin syndrome" + "obsolete_autosomal recessive cutis laxa type 1" "HUES53" + "obsolete_Gorlin syndrome" "Bloody diarrhea" "temporal lobe" "glutamine conjugate of C6H10O2 (2) measurement" @@ -28703,11 +28704,11 @@ "level of multifunctional methyltransferase subunit TRM112-like protein in blood serum" "small intestine neuroendocrine tumor" "N-acetyl-L-serine" - "level of sprouty-related, EVH1 domain-containing protein 1 in blood serum" "female genital tract fistula" + "level of sprouty-related, EVH1 domain-containing protein 1 in blood serum" "developmental and epileptic encephalopathy 103" - "obsolete_Meckel syndrome" "dihydroxy docosatrienoic acid measurement" + "obsolete_Meckel syndrome" "oculocutaneous albinism type 4" "Postaxial polydactyly of toes" "Hypervolemia" @@ -28755,20 +28756,20 @@ "3-methyl-2-oxovalerate" "Solanum lycopersicum" "polymorphic light eruption" - "obsolete_Oculopharyngodistal myopathy" "cytokine" "hereditary pulmonary alveolar proteinosis" - "rheumatic disease" + "obsolete_Oculopharyngodistal myopathy" "protein FAM221A" + "rheumatic disease" "macroglossia" "lipoprotein measurement" "apocrine sweat gland cancer" "BTB/POZ domain-containing protein KCTD5 measurement" "obsolete_root nodule" "medical procedure" - "right ventricular diastolic volume to left ventricular diastolic volume ratio"@en "Charcot-Marie-Tooth disease, demyelinating, IIA 1I" "presumptive rhombomere 4" + "right ventricular diastolic volume to left ventricular diastolic volume ratio"@en "vitamin supplement exposure measurement" "neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies" "zinc finger protein 410" @@ -28821,11 +28822,11 @@ "level of protein FAM151A in blood serum" "procathepsin L" "acute myeloid leukemia, monoallelic CEBPA gene mutation" + "obsolete_digestive duplication" "Dynein arm defect of respiratory motile cilia" "cerebral malformation" "neisseria meningitidis seropositivity" "Blepharoptosis - myopia - ectopia lentis" - "obsolete_digestive duplication" "X-21742 measurement" "Tae-Eum" "obsolete_alcohol consumption" @@ -28878,9 +28879,9 @@ "inherited obesity" "arylsulfatase K measurement" "rapid eye movement sleep disorder" - "1-docosahexaenoylglycerophosphocholine measurement" "level of inhibitor of nuclear factor kappa-B kinase subunit beta in blood serum" "lung meningioma" + "1-docosahexaenoylglycerophosphocholine measurement" "Droplet-CirSeq" "level of MHC class I histocompatibility antigen, alpha chain G in blood serum" "level of espin in blood serum" @@ -28894,15 +28895,15 @@ "level of vacuolar protein sorting-associated protein 26B in blood serum" "acid sphingomyelinase-like phosphodiesterase 3b" "hepatic fibrosis-renal cysts-intellectual disability syndrome" - "collection of basal ganglia" "polyarteritis nodosa, childhoood-onset" + "collection of basal ganglia" "obsolete_intellectual disability-obesity-prognathism-eye and skin anomalies syndrome" "T-cell differentiation antigen CD6 (human)" "level of protein disulfide isomerase CRELD1 in blood" "obsolete_humeral agenesis/hypoplasia, unilateral" + "obsolete_Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion" "parietal cell" "hilar cholangiocarcinoma" - "obsolete_Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion" "partial deletion of chromosome 19" "EB3" "Actinobacillus pleuropneumoniae serovar 7" @@ -28924,8 +28925,8 @@ "obsolete inherited soft tissue tumor" "level of calsyntenin-1 in blood serum" "extragonadal germ cell tumor" - "ectodermal placode development" "leucine-rich repeat-containing protein 15 measurement" + "ectodermal placode development" "peritoneal solitary fibrous tumor" "level of cAMP-dependent protein kinase type I-alpha regulatory subunit in blood serum" "alpha-2,8-sialyltransferase 8B" @@ -28970,9 +28971,9 @@ "MAM domain-containing protein 2 measurement" "level of protein CWC15 in blood" "Achalasia" - "Polar Spongioblastoma" "alcohol dehydrogenase [NADP(+)] measurement" "serine protease HTRA2, mitochondrial measurement" + "Polar Spongioblastoma" "obsolete_Stüve-Wiedemann syndrome" "latitude coordinate measurement datum"@en "seedhead" @@ -28981,9 +28982,9 @@ "thalamic disorder" "obsolete_Crigler-Najjar syndrome type 2" "bradyopsia" - "methoxychlor measurement"@en "level of protein delta homolog 2 in blood serum" "AB SOLiD 4 System" + "methoxychlor measurement"@en "number of siblings" "obsolete_transient bullous dermolysis of the newborn" "level of Phosphatidylcholine (16:0_18:2) in blood serum" @@ -29055,8 +29056,8 @@ "lung carcinoid tumor" "Eucalyptus globulus" "level of interleukin-7 in blood serum" - "obsolete_response to temozolomide" "Telecanthus - hypertelorism - strabismus - pes cavus" + "obsolete_response to temozolomide" "level of cytokine-like protein 1 in blood" "maturity-onset diabetes of the young type 3" "Hematochezia" @@ -29103,21 +29104,21 @@ "Venezuelan equine encephalitis" "Birt-Hogg-Dubé syndrome" "level of IST1 homolog in blood serum" - "obsolete_autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures" "childhood brain germinoma" "obsolete_loose anagen syndrome" "Elevated circulating 7-dehydrocholesterol concentration" "Bombyx mori" - "obsolete_duodenal atresia" + "obsolete_autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures" "protein 4.1" "level of mitochondrial-processing peptidase subunit alpha in blood serum" - "cortisone measurement" + "obsolete_duodenal atresia" "very long-chain saturated fatty acid measurement" + "cortisone measurement" "posterior lateral line nerve" "Macrotia" "GRACILE syndrome" - "permanent congenital hypothyroidism" "N-acetylcitrulline measurement" + "permanent congenital hypothyroidism" "partial duplication of chromosome 12" "periplakin" "SW954" @@ -29155,9 +29156,9 @@ "NCI-H1623" "whole plant fruit ripening complete stage" "charged multivesicular body protein 3 measurement" - "PC-3M cell" "callous character" "fetal thymocyte" + "PC-3M cell" "Tauroursodeoxycholic acid measurement" "infantile liver failure" "obsolete_GMS syndrome" @@ -29199,9 +29200,9 @@ "obsolete_X-linked intellectual disability, Stevenson type" "Abnormality of taste sensation" "left cardiac atrium" - "porphobilinogen deaminase measurement" "isolated microphthalmia 4" "insect head capsule" + "porphobilinogen deaminase measurement" "tricuspid atresia" "level of sorting nexin-1 in blood serum" "L-lactate dehydrogenase C chain" @@ -29321,17 +29322,17 @@ "benign neoplasm of large intestine" "obsolete_Otopalatodigital syndrome" "serpin B4" - "digestive system melanoma" "frailty measurement" + "digestive system melanoma" "GM17846" "carcinoembryonic antigen-related cell adhesion molecule 8" "nuclear factor erythroid 2-related factor 1 measurement" "protein jagged-1 measurement" "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8" - "Holoprosencephaly - craniosynostosis" "low affinity immunoglobulin gamma Fc region receptor II-a measurement" "skin barrier function measurement" "obsolete marginal papular palmoplantar keratoderma" + "Holoprosencephaly - craniosynostosis" "Melon necrotic spot virus" "low density lipoprotein receptor adapter protein 1" "Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy" @@ -29426,8 +29427,8 @@ "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14" "obsolete_neurofibromatosis type 1" "Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia" - "Piriformospora indica" "nausea and vomiting of pregnancy severity measurement" + "Piriformospora indica" "obsolete_isolated focal cortical dysplasia type IIb" "embryonic antennal sense organ" "calcium-dependent secretion activator 1" @@ -29562,9 +29563,9 @@ "hypermanganesemia with dystonia" "X-linked chondrodysplasia punctata 2" "all-cis-5,8,11,14,17-icosapentaenoic acid" - "Epstein-Barr virus early antigen seropositivity" "coagulation factor VII" "level of collagen alpha-1(V) chain in blood" + "Epstein-Barr virus early antigen seropositivity" "acute panmyelosis with myelofibrosis" "HUES6" "obsolete_rectal duplication" @@ -29663,8 +29664,8 @@ "hyper-IgE syndrome" "level of death domain-containing protein CRADD in blood serum" "qualitative or quantitative defects of calpain" - "early-onset generalized dystonia" "Malformation of the neurenteric canal, spinal cord and column" + "early-onset generalized dystonia" "level of discoidin, CUB and LCCL domain-containing protein 1 in blood serum" "Beck-Fahrner syndrome" "clomipramine" @@ -29675,8 +29676,8 @@ "behenoyl dihydrosphingomyelin (d18:0/22:0) measurement" "Primary bone dysplasia" "obsolete_congenital analbuminemia" - "osteoarthritis, knee" "valerate (5:0) measurement" + "osteoarthritis, knee" "G1/S-specific cyclin-D2" "ML-DmD20-c2" "MHC class II histocompatibility antigen gamma chain" @@ -29724,15 +29725,15 @@ "WRL-68" "myopericytoma" "neurexophilin-2" - "autosomal recessive spastic paraplegia type 71" "ureterocele" + "autosomal recessive spastic paraplegia type 71" "idiopathic aplastic anemia" "cortical thickness change measurement"@en "1-hexadecanoyl-2-[(7Z,10Z,13Z,16Z)-docosatetraenoyl]-sn-glycero-3-phosphocholine" "Developmental stagnation at onset of seizures" "obsolete eculizumab, poor response to" - "GMP reductase 2" "level of protein FAM241B in blood serum" + "GMP reductase 2" "propionic acid" "drug role" "mannosyl-oligosaccharide 1,2-alpha-mannosidase IA measurement" @@ -29792,8 +29793,8 @@ "reticulocyte count" "obsolete_monosomy 21" "partial segmental duplication" - "Rosa lucieae" "Polysomy of X chromosome" + "Rosa lucieae" "tripartite motif-containing protein 26" "curettage"@en "androsterone sulfate measurement" @@ -29916,10 +29917,10 @@ "obsolete_hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency" "Multinodular goiter - cystic kidney - polydactyly" "casein kinase I isoform delta measurement" - "obsolete_primary qualitative or quantitative defects of alpha-dystroglycan" "Jacobsen syndrome" "pericarp" "GM17213" + "obsolete_primary qualitative or quantitative defects of alpha-dystroglycan" "ear infection" "level of pleckstrin homology domain-containing family A member 7 in blood serum" "germ cell" @@ -29949,8 +29950,8 @@ "potassium voltage-gated channel subfamily A member 10 measurement" "level of sorting nexin-11 in blood serum" "blood arsenic measurement"@en - "seminal fluid" "level of glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial in blood" + "seminal fluid" "Self-injurious behavior" "Episodic abdominal pain" "obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy" @@ -29976,9 +29977,9 @@ "level of protein AMBP in blood serum" "obsolete Abnormal aggressive, impulsive or violent behavior" "kallikrein, decreased urinary activity of" - "X-23644 measurement" "Brassica carinata x Brassica rapa" "Arm dystonia" + "X-23644 measurement" "magnesium transporter NIPA4" "obsolete_adaxial cells" "X-11440-to-4-androsten-3beta,17beta-diol disulfate 2 ratio" @@ -30044,8 +30045,8 @@ "proteasome subunit beta type-4" "partial duplication of chromosome 1" "femoral neuropathy" - "level of centrosomal protein of 76 kDa in blood serum" "hepcidin measurement" + "level of centrosomal protein of 76 kDa in blood serum" "leukoencephalopathy with mild cerebellar ataxia and white matter edema" "endocrine-cerebro-osteodysplasia syndrome" "junctophilin-1 measurement" @@ -30177,13 +30178,13 @@ "vitamin k-dependent protein S measurement" "deafness-epiphyseal dysplasia-short stature syndrome" "hippocampus" + "obsolete_acrofacial dysostosis, Weyers type" "1-stearoyl-2-linoleoyl-GPE (18:0/18:2) measurement" "disturbed flow regions" "level of signal peptide, CUB and EGF-like domain-containing protein 3 in blood serum" "level of gastrokine-1 in blood" "ARS-Seq" "horse disease" - "obsolete_acrofacial dysostosis, Weyers type" "15-oxo-ETE" "epilepsy of infancy with migrating focal seizures" "level of negative elongation factor E in blood serum" @@ -30291,8 +30292,8 @@ "renal branch of vagus nerve" "level of neuronal pentraxin-1 in blood serum" "Lung agenesis - heart defect - thumb anomalies" - "obsolete organic substance metabolic process" "disintegrin and metalloproteinase domain-containing protein 30" + "obsolete organic substance metabolic process" "level of SPRY domain-containing SOCS box protein 1 in blood serum" "foreign body in gastrointestinal tract" "Musa sp." @@ -30329,13 +30330,13 @@ "TYK-nu.CP-r" "Finnish type amyloidosis" "prostate cancer cell line" - "Endometrial Hyperplasia without Atypia" "Galloway-Mowat syndrome 10" + "Endometrial Hyperplasia without Atypia" "GM17262" "demyelinating polyneuropathy" - "protein phosphatase 1L" "dense deposit disease" "Glycine max" + "protein phosphatase 1L" "GM12043" "familial mucolipidosis" "spermatogenic failure 47" @@ -30368,10 +30369,10 @@ "small adipocyte" "Abnormal circulating lactate dehydrogenase concentration" "delayed reward discounting measurement" + "obsolete_Coats plus syndrome" "female reproductive endometrioid cancer" "Siddiqi syndrome" "zinc finger protein 415" - "obsolete_Coats plus syndrome" "partial duplication of the short arm of chromosome 16" "CD209 antigen measurement" "commensal Clostridium infectious disease" @@ -30425,9 +30426,9 @@ "PDZK1-interacting protein 1 measurement" "serologically defined colon cancer antigen 8" "level of acyl-protein thioesterase 2 in blood" - "Oligodontia - cancer predisposition syndrome" "inherited Fanconi renotubular syndrome" "listeriosis" + "Oligodontia - cancer predisposition syndrome" "Short long bone" "basal-like breast carcinoma" "tubulin--tyrosine ligase measurement" @@ -30459,15 +30460,15 @@ "peripheral neuropathy" "diphosphomevalonate decarboxylase" "polydactyly" - "KMS-28BM" "obsolete_lens size anomaly" + "KMS-28BM" "level of tryptase delta in blood" "obsolete_basal plate midbrain region" "obsolete_Familial symmetric lipomatosis" "Gastrointestinal hemorrhage" "level of oocyte-secreted protein 2 in blood serum" - "Acro-fronto-facio-nasal dysostosis" "S-6-hydroxywarfarin to S-warfarin ratio measurement" + "Acro-fronto-facio-nasal dysostosis" "glycosylphosphatidylinositol biosynthesis defect 21" "nicotinamide riboside kinase 2" "level of bone marrow stromal antigen 2 in blood serum" @@ -30641,9 +30642,9 @@ "activated protein C measurement" "level of nuclear receptor 2C2-associated protein in blood serum" "kidney disease" - "obsolete_Muckle-Wells syndrome" "cochlin" "Branchio-otic syndrome" + "obsolete_Muckle-Wells syndrome" "geographic tongue" "BALB/cAnN" "osteosclerotic metaphyseal dysplasia" @@ -30661,8 +30662,8 @@ "squamous cell lung carcinoma" "pseudohypoaldosteronism, type IB2, autosomal recessive" "ubiquitin-like protein ISG15 measurement" - "shoulder and thorax deformity-congenital heart disease syndrome" "blood barium measurement"@en + "shoulder and thorax deformity-congenital heart disease syndrome" "Amelia" "pituitary adenocarcinoma" "sympathetic nervous system" @@ -30697,8 +30698,8 @@ "level of endoribonuclease LACTB2 in blood" "microcytic anemia with liver iron overload" "total cholesterol in small VLDL" - "spine bone mineral density" "phenylketonuria" + "spine bone mineral density" "ACTH-independent adrenal Cushing syndrome, somatic" "10x 3' v1" "chromosome 6q24-q25 deletion syndrome" @@ -30724,8 +30725,8 @@ "level of protein ZNRD2 in blood" "grange syndrome" "intellectual disability, X-linked 106" - "RNA polymerase II elongation factor ELL measurement" "Combined oxidative phosphorylation defect type 21" + "RNA polymerase II elongation factor ELL measurement" "familial thrombomodulin anomalies" "retinol-binding protein 2" "European bat lyssavirus 1" @@ -30740,8 +30741,8 @@ "intrathoracic organ injury" "ETS domain-containing protein Elk-3 measurement" "4-acetamidobutanoate measurement" - "malignant melanoma of the mucosa" "carbonic anhydrase-related protein 10 measurement" + "malignant melanoma of the mucosa" "M1 distant metastasis stage" "Buchnera sp." "level of zinc finger protein 41 in blood serum" @@ -30845,10 +30846,10 @@ "venom" "obsolete critical COVID-19 infection" "delirium" + "pregnancy-specific beta-1-glycoprotein 5 measurement" "4E-BP1 measurement" "EDICT syndrome" "obsolete_testis" - "pregnancy-specific beta-1-glycoprotein 5 measurement" "obsolete cerebrofaciothoracic dysplasia" "obsolete_monosomy X" "Candidatus Kuenenia stuttgartiensis" @@ -30903,9 +30904,9 @@ "fumarate measurement"@en "congenital plasminogen activator inhibitor type 1 deficiency" "level of ADP-ribosylation factor 4 in blood serum" + "obsolete_hyperprolinemia type 2" "obsolete paralytic facial malformation" "ectopic hormone secretion syndrome associated with neoplasia" - "obsolete_hyperprolinemia type 2" "platelet alpha granule" "Juvenile onset" "orofaciodigital syndrome I" @@ -30985,9 +30986,9 @@ "level of V-type proton ATPase subunit D in blood" "nasopharyngeal teratoma" "hypochromic microcytic anemia" - "postweaning multisystemic wasting syndrome" "transgelin-2 measurement" "peroxiredoxin-5, mitochondrial measurement" + "postweaning multisystemic wasting syndrome" "level of mRNA turnover protein 4 in blood serum" "childhood testicular choriocarcinoma" "Hartnup disease" @@ -31036,10 +31037,10 @@ "metabolic rate measurement" "rectal carcinoma" "growth protocol" - "Pierpont syndrome" - "serum alanine aminotransferase measurement" "obsolete_synpolydactyly type 1" "West Nile encephalitis" + "Pierpont syndrome" + "serum alanine aminotransferase measurement" "intracranial meningioma" "DOORS syndrome" "trans-acting T-cell-specific transcription factor GATA-3" @@ -31120,9 +31121,9 @@ "obsolete_retinal macular dystrophy type 2" "collagen alpha-2(VI) chain" "palmdelphin" - "Chitayat syndrome" "Connective tissue disorder due to lysyl hydroxylase-3 deficiency" "maculopapular cutaneous mastocytosis" + "Chitayat syndrome" "TCam-2" "Transitional Cell Carcinoma" "Huntington disease-like syndrome due to C9ORF72 expansions" @@ -31138,8 +31139,8 @@ "vascular toxicity" "hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency" "obsolete_Nestor-Guillermo progeria syndrome" - "obsolete_lipoyl transferase 1 deficiency" "N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase" + "obsolete_lipoyl transferase 1 deficiency" "thioredoxin domain-containing protein 9" "lip carcinoma in situ" "corolla development stage" @@ -31173,8 +31174,8 @@ "alopecia universalis congenita" "AT-rich interactive domain-containing protein 1A" "myopathy with abnormal lipid metabolism" - "X-21803 measurement" "CAL-12T" + "X-21803 measurement" "CD22-positive, CD38-low small pre-B cell" "intellectual disability, autosomal dominant 58" "Radial deficiency - tibial hypoplasia" @@ -31195,11 +31196,11 @@ "cortical opacity measurement" "hyperparathyroidism 2 with jaw tumors" "level of heterogeneous nuclear ribonucleoprotein F in blood serum" - "level of ubiquitin-like modifier-activating enzyme 6 in blood serum" + "level of integrin alpha-V in blood serum" "Acropora millepora" + "level of ubiquitin-like modifier-activating enzyme 6 in blood serum" "Leber congenital amaurosis with early-onset deafness" "obsolete heterocycle biosynthetic process" - "level of integrin alpha-V in blood serum" "level of ataxin-10 in blood serum" "Joubert syndrome 1" "melanoma antigen preferentially expressed in tumors" @@ -31217,9 +31218,9 @@ "D-Sorbitol measurement" "U-698-M" "matrilin-4" + "polyp of ethmoidal sinus" "X-linked central congenital hypothyroidism with late-onset testicular enlargement" "Streptococcus thermophilus CNRZ1066" - "polyp of ethmoidal sinus" "Equus caballus" "obsolete_epidermodysplasia verruciformis" "orbit of skull" @@ -31238,17 +31239,17 @@ "intracranial hypertension" "cardiac rhythm disease" "20q11.2 microduplication syndrome" - "pineal complex" "leukocyte immunoglobulin-like receptor subfamily A member 5 measurement" "butyrylglycine measurement" + "pineal complex" "tonsillitis" "trichotillomania" "level of R-spondin-1 in blood serum" "notochordal tumor" "duodenal benign neoplasm" + "obsolete_Zellweger-like syndrome without peroxisomal anomalies" "Swiss2" "autosomal dominant osteopetrosis 1" - "obsolete_Zellweger-like syndrome without peroxisomal anomalies" "level of cAMP-dependent protein kinase type II-beta regulatory subunit in blood serum" "praziquantel" "Achondrogenesis type 2" @@ -31305,12 +31306,12 @@ "dysmorphism-short stature-deafness-disorder of sex development syndrome" "Podoviridae" "obsolete_galactose epimerase deficiency" + "X-linked intellectual disability, Raynaud type" "endometrial neoplasm" "mannosyl-oligosaccharide 1,2-alpha-mannosidase IC" "mitochondrial trifunctional protein deficiency 2" "hexadecanoic acid" "Lactobacillus delbrueckii subsp. bulgaricus" - "X-linked intellectual disability, Raynaud type" "inactive serine protease 35" "age at first facial hair" "dual specificity protein phosphatase 23" @@ -31395,15 +31396,15 @@ "obsolete_atrial myocardium" "visceral heterotaxy" "IRIDA syndrome" - "obsolete_Mucolipidosis type II" "dihydropteridine reductase deficiency" - "reticulum cell sarcoma" + "obsolete_Mucolipidosis type II" "probable aminopeptidase NPEPL1" - "experiment accession" + "reticulum cell sarcoma" "severe combined immunodeficiency due to CARD11 deficiency" - "trait in response to apixaban" + "experiment accession" "prostaglandin F2 receptor negative regulator measurement" "X-23657 measurement" + "trait in response to apixaban" "postmenopausal" "Staphylococcus aureus subsp. aureus COL" "semaphorin-3G" @@ -31588,9 +31589,9 @@ "Nephronophthisis" "obsolete_floor plate rhombomere 4" "adenocarcinoma" - "creatine kinase measurement" "pharyngula high-pec" "isobutyryl-CoA dehydrogenase deficiency" + "creatine kinase measurement" "DSGEGDFXAEGGGVR-to-ADpSGEGDFXAEGGGVR ratio" "global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome" "organelle membrane" @@ -31664,8 +31665,8 @@ "malignant breast melanoma" "IgG plasma cell" "obsolete_umbilical cord" - "UL-16 binding protein 5" "ILSXISS7/TejJ" + "UL-16 binding protein 5" "Stridor" "level of ciliogenesis-associated TTC17-interacting protein in blood serum" "open-angle glaucoma" @@ -31739,10 +31740,10 @@ "level of lysosomal acid glucosylceramidase in blood serum" "gene" "hydroxyacylglutathione hydrolase-like protein" - "mature Vgamma2-negative thymocyte" "nontoxic goiter" - "3-(1H-indol-3-yl)propanoic acid" + "mature Vgamma2-negative thymocyte" "level of outer dynein arm-docking complex subunit 4 in blood serum" + "3-(1H-indol-3-yl)propanoic acid" "pericytic neoplasm" "SOSP-9607" "mucinous adenocarcinoma of the appendix" @@ -31848,10 +31849,10 @@ "dietary vitamin E intake measurement" "LP/J" "flavin reductase" - "Familial short QT syndrome" "N-acetylglutamate synthase, mitochondrial" "response to cranial radiation therapy"@en "thioredoxin-interacting protein" + "Familial short QT syndrome" "scaffold attachment factor B2" "collagen alpha-5(VI) chain" "Swiss19" @@ -31886,9 +31887,9 @@ "fraction E immature B cell" "language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia" "obsolete_partial deletion of chromosome 12" - "obsolete_Turner syndrome due to structural X chromosome anomalies" "obsolete_spinocerebellar ataxia type 18" "epithelioid type angiomyolipoma" + "obsolete_Turner syndrome due to structural X chromosome anomalies" "CS57677" "obsolete_maternal uniparental disomy of chromosome 21" "cytokine receptor-like factor 1:cardiotrophin-like cytokine factor 1 complex measurement" @@ -31900,8 +31901,8 @@ "level of prostaglandin reductase 3 in blood serum" "level of ubiquitin-like modifier-activating enzyme 7 in blood serum" "Aedes aegypti" - "FYVE, RhoGEF and PH domain-containing protein 3" "obsolete deafness-enamel hypoplasia-nail defects syndrome" + "FYVE, RhoGEF and PH domain-containing protein 3" "Disorder of urea cycle metabolism and ammonia detoxification" "Absent septum pellucidum" "ventral mesoderm" @@ -31922,15 +31923,15 @@ "mitochondrial DNA depletion syndrome 4a" "X-24831 measurement" "carnitine palmitoyl transferase II deficiency, myopathic form" - "triacylglycerol 58:11" "level of calcyphosin in blood serum" + "triacylglycerol 58:11" "smoking initiation" "Ulnar hypoplasia - split foot" "disintegrin and metalloproteinase domain-containing protein 7" "Lethal encephalopathy due to mitochondrial and peroxisomal fission defect" "mitogen-activated protein kinase kinase kinase 5" - "angiotensin-converting enzyme 2 measurement" "NGFI-A-binding protein 2 measurement" + "angiotensin-converting enzyme 2 measurement" "obsolete HTRA1-related cerebral small vessel disease" "augurin measurement" "Lowry-Wood syndrome" @@ -31962,8 +31963,8 @@ "familial visceral amyloidosis" "FUN14 domain-containing protein 1" "neurodegeneration with brain iron accumulation 5" - "level of disintegrin and metalloproteinase domain-containing protein 7 in blood serum" "Dystrophic epidermolysis bullosa" + "level of disintegrin and metalloproteinase domain-containing protein 7 in blood serum" "obsolete_urocanic aciduria" "branchial arch disease" "blood island" @@ -32042,8 +32043,8 @@ "SRSF protein kinase 2" "level of uncharacterized protein C4orf36 in blood serum" "thioredoxin-interacting protein measurement" - "Chorioretinitis" "obsolete_renal-genital-middle ear anomalies" + "Chorioretinitis" "Familial chondromalacia patellae" "obsolete_glycine encephalopathy" "disorder of glycolysis" @@ -32126,9 +32127,9 @@ "shigella phage virus seropositivity" "neurogenic locus notch homolog protein 1 measurement" "ig Kappa chain V-I region HK102- like measurement" - "Coronaviridae infectious disease" "segmentation 20-25 somites" "LY294002" + "Coronaviridae infectious disease" "triacylglycerol 48:0 measurement"@en "obsolete_locus coeruleus" "paragraph delayed recall measurement" @@ -32147,9 +32148,9 @@ "concentration of large VLDL particles measurement" "Primary basilar impression" "Mitochondrial myopathy" + "ANGPTL8 measurement"@en "female infertility due to oocyte meiotic arrest" "myopathy, centronuclear, 5" - "ANGPTL8 measurement"@en "level of protocadherin-8 in blood serum" "blood 13,16,19-Docosatrienoic acid amount" "posterior amorphous corneal dystrophy" @@ -32273,8 +32274,8 @@ "level of nuclear receptor subfamily 5 group A member 2 in blood serum" "obsolete_X-linked mandibulofacial dysostosis" "prostaglandin reductase 1 measurement" - "X-23662 measurement" "level of anosmin-1 in blood serum" + "X-23662 measurement" "familial prostate carcinoma" "isocitrate dehydrogenase [NADP] cytoplasmic" "level of transcriptional repressor protein YY1 in blood serum" @@ -32306,11 +32307,11 @@ "methyl indole-3-acetate measurement" "Aspiration" "spondyloperipheral dysplasia" + "delphinine measurement" "electrocardiography" "Beckwith-Wiedemann syndrome due to 11p15 microduplication" "coloboma of eyelid" "obsolete_left atrium" - "delphinine measurement" "anti-CD28" "obsolete_trisomy 20p" "GM12236" @@ -32330,9 +32331,9 @@ "level of bifunctional peptidase and arginyl-hydroxylase JMJD5 in blood serum" "Hh-0" "MHC-II-negative non-classical monocyte" - "obsolete_Patterson-Stevenson-Fontaine syndrome" "modified STRT-seq"@en "cofilin-1 measurement" + "obsolete_Patterson-Stevenson-Fontaine syndrome" "personality trait measurement" "ampicillin" "isolated thyrotropin-releasing hormone deficiency" @@ -32348,10 +32349,10 @@ "breast papillary carcinoma" "ethanolamine kinase 2" "root mean square of the successive differences of inter beat intervals" + "obsolete_8p inverted duplication/deletion syndrome" "developmental and epileptic encephalopathy, 4" "transcription factor SOX-9" "obsolete_PARC syndrome" - "obsolete_8p inverted duplication/deletion syndrome" "level of huntingtin-interacting protein 1 in blood" "mosaic trisomy 1" "DnaJ homolog subfamily A member 4" @@ -32384,9 +32385,9 @@ "obsolete_pili bifurcati" "S-formylglutathione hydrolase measurement" "obsolete_isolated lissencephaly type 1 without known genetic defects" + "endodermal sinus tumor" "level of retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta in blood serum" "protein kinase C-binding protein NELL1" - "endodermal sinus tumor" "NCI-H2135" "protein kish-A measurement" "Spinacia oleracea" @@ -32408,8 +32409,8 @@ "pyruvate dehydrogenase E3-binding protein deficiency" "norepinephrine secretion, neurotransmission" "cervical adenocarcinoma" - "ILSXISS13/TejJ" "UL16-binding protein 6" + "ILSXISS13/TejJ" "level of protein S100-P in blood" "level of neurosecretory protein VGF in blood" "EMG: myopathic abnormalities" @@ -32478,10 +32479,10 @@ "trigonelline (N'-methylnicotinate) measurement" "obsolete_floor plate rhombomere 7" "obsolete_ethylmalonic encephalopathy" - "lysosomal acid phosphatase measurement" "pharyngula prim-15" - "2-hydroxybehenate measurement" + "lysosomal acid phosphatase measurement" "serum albumin measurement" + "2-hydroxybehenate measurement" "caspase recruitment domain-containing protein 9" "Leber congenital amaurosis 17" "level of homeobox protein Hox-A5 in blood serum" @@ -32549,10 +32550,10 @@ "SSB-Seq" "long-chain fatty acid transport protein 4" "obsolete_benign recurrent intrahepatic cholestasis type 2" + "obsolete_congenital ectropion" "wnt inhibitory factor 1 measurement" "vesicle-associated membrane protein 1" "ptosis-syndactyly-learning difficulties syndrome" - "obsolete_congenital ectropion" "short-rib thoracic dysplasia 6 with or without polydactyly" "Congenital intestinal disease due to an enzymatic defect" "level of glutaredoxin-related protein 5 in blood" @@ -32594,16 +32595,16 @@ "intellectual disability and myopathy syndrome" "protein POF1B" "Takayasu arteritis" - "Unclassified Renal Cell Carcinoma" "ezrin measurement" + "Unclassified Renal Cell Carcinoma" "obsolete_dorsal histoblast nest abdominal" "sphingomyelin d18:1/16:0" "glutathione peroxidase 7" "recessive spherocytosis"@en "Huntington disease-like syndrome" + "obsolete_torsade-de-pointes syndrome with short coupling interval" "input DNA" "nuclear apoptosis-inducing factor 1" - "obsolete_torsade-de-pointes syndrome with short coupling interval" "thioredoxin-like protein 1" "Hyperostosis" "sudden sensorineural hearing loss" @@ -32613,14 +32614,14 @@ "Clark level II" "level of DDB1- and CUL4-associated factor 11 in blood serum" "hypoplastic left heart syndrome 2" - "obsolete_ureter" "Disorder of bile acid synthesis" + "obsolete_ureter" "novobiocin" "neuropathy, congenital hypomelinating" "tongue neoplasm" "HG02970" - "sensory system cancer" "neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2" + "sensory system cancer" "obsolete_auxin" "high affinity cAMP-specific 3',5'-cyclic phosphodiesterase 7a measurement" "autosomal dominant disease" @@ -32631,9 +32632,9 @@ "dyssegmental dysplasia, Rolland-Desbuquois type" "cribriform variant testicular seminoma" "severe congenital nemaline myopathy" - "asphyxia neonatorum" "pyruvate dehydrogenase E3 deficiency" "oxoglutaricaciduria" + "asphyxia neonatorum" "benign prostatic hyperplasia" "azathioprine" "carnitine palmitoyl transferase 1A deficiency" @@ -32646,12 +32647,12 @@ "Retractile testis" "obsolete_Ankylosing vertebral hyperostosis with tylosis" "level of sequestosome-1 in blood serum" + "obsolete_tuberous sclerosis" "obsolete_acral dystrophic epidermolysis bullosa" "Corneal dystrophy - perceptive deafness" - "obsolete_tuberous sclerosis" - "Secretory diarrhea" "thioredoxin measurement" "sodium nitroprusside" + "Secretory diarrhea" "hereditary cerebellar ataxia" "obsolete_hyperphosphatasia-intellectual disability syndrome" "AR-C124910XX measurement" @@ -32685,8 +32686,8 @@ "MC-Hi-C" "GRIP and coiled-coil domain-containing protein 1" "Charcot-Marie-Tooth disease type 4" - "cardiovascular cancer" "X-24870 measurement" + "cardiovascular cancer" "autosomal dominant progressive external ophthalmoplegia" "peritrophic membrane" "troglitazone" @@ -32714,13 +32715,13 @@ "granule cell layer dentate gyrus volume" "5-hydroxytryptophol measurement" "obsolete_partial duplication of the long arm of chromosome X" - "CACH syndrome" "osteocraniostenosis" "level of serine protease inhibitor Kazal-type 5 in blood" "carotenoid measurement" + "CACH syndrome" + "hepatitis B virus X-interacting protein" "cold-induced vasodilation"@en "campylobacteriosis" - "hepatitis B virus X-interacting protein" "Helicobacter pylori J99" "level of ataxin-3 in blood" "Bradyrhizobium japonicum USDA 110" @@ -32756,9 +32757,9 @@ "S-arrestin" "46,xx sex reversal 5" "Benign Kidney Neoplasm" - "X-linked intellectual disability, Snyder type" "eosinophilic esophagitis" "Lactobacillus helveticus" + "X-linked intellectual disability, Snyder type" "S-[2,3-bis(palmitoyloxy)propyl]-Cys-Ser-Lys-Lys-Lys-Lys" "X-12644 measurement" "[Pyruvate dehydrogenase acetyl-transferring] kinase isozyme 1, mitochondrial measurement" @@ -32797,13 +32798,13 @@ "level of caspase recruitment domain-containing protein 19 in blood serum" "hypoaldosteronism disease" "obsolete_adult neuronal ceroid lipofuscinosis" - "obsolete_isolated glycerol kinase deficiency" - "Benign familial chorea" "level of ubiquitin carboxyl-terminal hydrolase 21 in blood serum" "frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome" + "Benign familial chorea" "level of ribokinase in blood" "angiokeratoma corporis diffusum with arteriovenous fistulas" "T-box brain protein 1" + "obsolete_isolated glycerol kinase deficiency" "X-02973 measurement" "loricrin keratoderma" "pestivirus infectious disease, non-human animal" @@ -32811,10 +32812,10 @@ "59M" "pyridoxine-5'-phosphate oxidase" "skeletal system disease" - "L-Glutamic acid to 3-Indolepropionic acid ratio" "stathmin" "interferon-induced GTP-binding protein Mx1" "urinary tract infection" + "L-Glutamic acid to 3-Indolepropionic acid ratio" "hyperandrogenism" "obsolete_response to flurouracil" "phosphocreatine measurement"@en @@ -32827,23 +32828,23 @@ "obsolete_familial isolated restrictive cardiomyopathy" "Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA" "benzbromarone" - "obsolete_acrofacial dysostosis, Palagonia type" "sphingomyelin 34:1 measurement" + "obsolete_acrofacial dysostosis, Palagonia type" "interleukin 19 measurement" "androstenediol (3beta,17beta) monosulfate (2) measurement" + "obsolete developmental defect of the eye" "concentration unit" "level of calcyphosin-like protein in blood serum" - "obsolete developmental defect of the eye" - "ETS domain-containing protein Elk-4" "intellectual disability, X-linked 21" + "ETS domain-containing protein Elk-4" "staphylococcus phage virus seropositivity" "hephaestin-like protein 1 measurement" - "clonal hematopoiesis mutation measurement"@en "vaginal adenosarcoma" + "clonal hematopoiesis mutation measurement"@en "triacylglycerol 48:1 measurement"@en "neutral ceramidase measurement" - "coronavirus infectious disease" "LP.06 six leaves visible stage" + "coronavirus infectious disease" "level of Phosphatidylcholine (O-16:1_20:4) in blood serum" "segmentation 26+ somites" "level of xyloside xylosyltransferase 1 in blood serum" @@ -32875,8 +32876,8 @@ "obsolete_dimethylglycine dehydrogenase deficiency" "semaphorin-4B" "urethra squamous cell carcinoma" - "stomatitis" "PA-1" + "stomatitis" "ovarian mixed germ cell neoplasm" "1-oleoyl-GPG (18:1) measurement" "BS-Seq" @@ -32941,8 +32942,8 @@ "F9 mouse embryonal carcinoma cell line" "phosphatidylcholine acyl-alkyl C34:1 measurement" "viral hemorrhagic septicemia" - "obsolete_Borjeson-Forssman-Lehmann syndrome" "level of gephyrin in blood serum" + "obsolete_Borjeson-Forssman-Lehmann syndrome" "level of TIMELESS-interacting protein in blood serum" "megaconial type congenital muscular dystrophy" "large ribosomal subunit protein P2" @@ -32979,13 +32980,13 @@ "Papillary Craniopharyngioma" "Brachytelephalangy - dysmorphism - Kallmann syndrome" "obsolete_Bernard-Soulier syndrome" - "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2N" "response to xenobiotic stimulus trait" "autosomal recessive centronuclear myopathy" + "obsolete_autosomal recessive limb-girdle muscular dystrophy type 2N" "obsolete_pacman dysplasia" "aflatoxin B1" - "obsolete_familial primary hypomagnesemia with hypocalcuria" "brain dopamine-serotonin vesicular transport disease" + "obsolete_familial primary hypomagnesemia with hypocalcuria" "obsolete_maternal uniparental disomy of chromosome 1" "Vici syndrome" "obsolete_pseudoleprechaunism syndrome, Patterson type" @@ -33045,9 +33046,9 @@ "lipoprotein-associated phospholipase A(2) measurement" "SH3 and multiple ankyrin repeat domains protein 1" "sclerostin measurement"@en - "Swiss8" "palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome" "tumor necrosis factor receptor superfamily member 10C" + "Swiss8" "level of catenin alpha-2 in blood serum" "ADHD symptom measurement" "obsolete_hemochromatosis type 4" @@ -33057,12 +33058,12 @@ "obsolete_cephalocele" "monensin A" "obsolete coloboma of optic disk" - "Orofaciodigital syndrome type 8" "demethylphosphinothricin measurement" - "nectin-2 measurement" + "Orofaciodigital syndrome type 8" "acromesomelic dysplasia 2B" "central nervous system vasculitis" "protein PALS2" + "nectin-2 measurement" "GM12239" "maple syrup urine disease type 1A" "obsolete_X-linked intellectual disability, Cilliers type" @@ -33125,12 +33126,12 @@ "olfactory region" "sarcocystosis" "obsolete organic cyclic compound metabolic process" - "obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis" "GM17124" "level of disintegrin and metalloproteinase domain-containing protein 8 in blood" "level of zinc finger protein 526 in blood serum" "signal recognition particle 14 kDa protein" "flower development stage" + "obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis" "susceptibility to HIV infection" "obsolete_gray platelet syndrome" "carbon monoxide" @@ -33159,8 +33160,8 @@ "autosomal recessive spinocerebellar ataxia 18" "GM17229" "level of septin-11 in blood serum" - "HG03439" "level of lactase/phlorizin hydrolase in blood serum" + "HG03439" "kynurenate" "benomyl" "obsolete_bladder mucosa" @@ -33171,9 +33172,9 @@ "familial hypocalciuric hypercalcemia 3" "Tay-Sachs disease, B1 variant" "obsolete_Usher syndrome type 2" + "total brassicasterol measurement"@en "sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis" "Ellis-van Creveld syndrome" - "total brassicasterol measurement"@en "triglycerides in medium HDL measurement " "level of doublecortin domain-containing protein 2C in blood" "obsolete_Richieri Costa-Pereira syndrome" @@ -33228,10 +33229,10 @@ "Eisenmenger syndrome" "obsolete_Tay-Sachs disease, b variant, juvenile form" "CD2 molecule" - "pharyngula prim-25" "lysosomal Pro-X carboxypeptidase measurement" - "trait in response to erlotinib" + "pharyngula prim-25" "2-hydroxynervonate measurement" + "trait in response to erlotinib" "calcium-regulated heat-stable protein 1" "HUES28" "obsolete_attenuated familial adenomatous polyposis" @@ -33248,8 +33249,8 @@ "obsolete_penis" "CLN13 disease" "cerebellar hemangioblastoma" - "obsolete_LEOPARD syndrome" "presumptive hypochord" + "obsolete_LEOPARD syndrome" "zinc finger CCCH domain-containing protein 8" "deoxycholate" "AB1" @@ -33346,9 +33347,9 @@ "obsolete_interopercle" "zygodactyly type 1" "anonychia-microcephaly syndrome" - "ML-DmD32" "univentricular cardiopathy" "GDP-fucose protein O-fucosyltransferase 1" + "ML-DmD32" "kallikrein-15" "hyaline cartilage tissue" "Qualitative or quantitative defects of sarcoglycan" @@ -33448,9 +33449,9 @@ "obsolete_Ehlers-Danlos syndrome type 11" "indoleacetate measurement" "obsolete autosomal trisomy" - "obsolete_McDonough syndrome" "Broad-based gait" "esophagogastric junction" + "obsolete_McDonough syndrome" "transmembrane protein 2 measurement" "esophageal lipoma" "Mungan syndrome" @@ -33465,20 +33466,20 @@ "Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation" "level of MAM domain-containing glycosylphosphatidylinositol anchor protein 1 in blood" "cornea" - "level of serine protease inhibitor Kazal-type 6 in blood" "5-methylthioribose measurement" + "level of serine protease inhibitor Kazal-type 6 in blood" "VACTERL with hydrocephalus" "multiple myeloma" "hemoglobin subunit zeta" "undecenoylcarnitine (C11:1) measurement" "blood galactosylceramidase activity measurement"@en + "obsolete_Liddle syndrome" "CADASIL" "obsolete_gonad primordium" "X-06350 measurement" "Spastic paraplegia - glaucoma - intellectual disability" "ectodermal dysplasia-blindness syndrome" "coronary atherosclerosis measurement" - "obsolete_Liddle syndrome" "microcephalic primordial dwarfism, Alazami type" "fully-elongated embryo Ce" "Abnormality of the gastrointestinal tract" @@ -33486,16 +33487,16 @@ "1-linolenoyl-GPE (18:3) measurement" "chromosome 10 disorder" "neural proliferation differentiation and control protein 1 measurement" - "Orientia tsutsugamushi" "spinal cord lymphoma" + "Orientia tsutsugamushi" "neurodevelopmental disorder with or without variable movement or behavioral abnormalities" "EEG with generalized epileptiform discharges" "cholesteryl ester 17:0 measurement" "glycerophosphoserine" - "Hypotrichosis - lymphedema - telangiectasia" "Burkholderia lata" "level of adaptin ear-binding coat-associated protein 2 in blood serum" "distal convoluted tubule" + "Hypotrichosis - lymphedema - telangiectasia" "Tarlov Cysts" "9q31.1q31.3 microdeletion syndrome" "Undifferentiated Gallbladder Carcinoma" @@ -33504,11 +33505,11 @@ "glycogen storage disease due to liver phosphorylase kinase deficiency" "cochlin measurement" "pregnancy-specific beta-1-glycoprotein 4" - "obsolete_hyperkeratosis lenticularis perstans" + "Anonychia - microcephaly" "anti-CTCF" "chromosome 14q11-q22 deletion syndrome" - "Anonychia - microcephaly" "thioredoxin-like protein 4A" + "obsolete_hyperkeratosis lenticularis perstans" "2q37 microdeletion syndrome" "Drechslera sp." "obsolete_kidney (Bos taurus)" @@ -33655,8 +33656,8 @@ "Hexanoyl glycine measurement" "Unilateral deafness" "Benign Ovarian Brenner Tumor" - "oculoauriculofrontonasal syndrome" "X-linked intellectual disability, Wittner type" + "oculoauriculofrontonasal syndrome" "level of neurexin-3-alpha in blood serum" "Lactobacillus hilgardii" "centrifuge" @@ -33689,8 +33690,8 @@ "glycocholic acid measurement"@en "Non-syndromic genetic deafness" "familial thoracic aortic aneurysm and aortic dissection" - "obsolete_diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency" "dermatologic drug" + "obsolete_diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency" "obsolete congenital abnormality" "age of onset of asthma" "gametocyte-specific factor 1" @@ -33815,10 +33816,10 @@ "arecaidine measurement" "NOD mouse" "DNA-binding protein SATB1 measurement" - "tumor necrosis factor, receptor superfamily, member 5 measurement"@en "protein measurement" - "Swiss9" + "tumor necrosis factor, receptor superfamily, member 5 measurement"@en "skin carcinoma" + "Swiss9" "body ratio measurement" "obsolete_distal trisomy 2q" "phosphatidylcholine acyl-alkyl C34:2 measurement" @@ -34013,10 +34014,10 @@ "chronic pain syndrome" "catalepsy" "obsolete_generalized resistance to thyroid hormone" + "Short stature - pituitary and cerebellar defects - small sella turcica" "glucose-1-phosphate measurement"@en "Desulfotomaculum reducens MI-1" "polypeptide N-acetylgalactosaminyltransferase 2" - "Short stature - pituitary and cerebellar defects - small sella turcica" "level of poly [ADP-ribose] polymerase tankyrase-1 in blood serum" "white sponge nevus 1" "level of ADP-ribosylation factor GTPase-activating protein 2 in blood serum" @@ -34031,8 +34032,8 @@ "familial anetoderma" "Kallmann syndrome - heart disease" "cold urticaria" - "level of platelet-derived growth factor subunit A in blood serum" "atrial septal defect 3" + "level of platelet-derived growth factor subunit A in blood serum" "neudesin" "Elevated carcinoma antigen 125 level" "NCI-H2196" @@ -34067,8 +34068,8 @@ "Hip pain" "free brassicasterol measurement"@en "triglycerides in medium LDL measurement " - "obsolete_benign partial infantile seizures" "CCAAT/enhancer-binding protein beta measurement" + "obsolete_benign partial infantile seizures" "level of inositol polyphosphate 5-phosphatase OCRL in blood serum" "Synechococcus phage S-IO17" "level of butyrophilin subfamily 2 member A1 in blood" @@ -34146,12 +34147,12 @@ "level of alpha-N-acetylneuraminide alpha-2,8-sialyltransferase in blood serum" "regulator of G-protein signaling 14" "NKG2D ligand 2 measurement" + "PD20" "paronychia" "phenylephrine" "level of nuclear envelope phosphatase-regulatory subunit 1 in blood serum" "ubiquitin-like modifier-activating enzyme 1" "level of melanocyte protein Pmel 17 in blood serum" - "PD20" "retina lymphoma" "level of ETS translocation variant 2 in blood serum" "Rare genetic gastroenterological disease" @@ -34161,15 +34162,15 @@ "splicing factor 1 measurement" "antioxidant measurement" "5-oxo-ETE measurement" + "obsolete_hereditary sclerosing poikiloderma with tendon and pulmonary involvement" "desmosterolosis" "level of serine protease inhibitor Kazal-type 8 in blood" "cysteine sulfinic acid measurement" + "obsolete_congenital disorder of glycosylation" + "multiple sclerosis symptom measurement"@en "PC(19:3(10Z,13Z,16Z)/0:0)" - "obsolete_hereditary sclerosing poikiloderma with tendon and pulmonary involvement" "Zollinger-Ellison Syndrome" - "multiple sclerosis symptom measurement"@en "level of GRB2-related adapter protein in blood serum" - "obsolete_congenital disorder of glycosylation" "complement C1q tumor necrosis factor-related protein 4" "level of BAG family molecular chaperone regulator 3 in blood" "Rothmund-Thomson syndrome" @@ -34236,18 +34237,18 @@ "AT-rich interactive domain-containing protein 4B" "Tibial pseudarthrosis" "myeloid leukemia cell line" - "level of NEDD8 protein in blood serum" "obsolete_autosomal recessive spastic paraplegia type 67" "testicular hydrocele" + "level of NEDD8 protein in blood serum" "14q24.1q24.3 microdeletion syndrome" "Undifferentiated Ovarian Carcinoma" "level of dihydroorotate dehydrogenase (quinone), mitochondrial in blood" "pharyngeal arch artery 5" "neurogenic bowel" "cytoplasmic tyrosine-protein kinase BMX measurement" - "Muscle fiber actin filament accumulation" "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" "wet beriberi" + "Muscle fiber actin filament accumulation" "obsolete major hypertriglyceridemia" "chromosome 16p13.3 duplication syndrome" "riddelliine" @@ -34287,10 +34288,10 @@ "level of Phosphatidylcholine (O-18:0_14:0) in blood serum" "anti-muellerian hormone type-2 receptor measurement" "KMC-1" - "cellular tumor antigen p53 measurement" "cot filtration" "glutamine" "tyrosine-protein kinase Mer" + "cellular tumor antigen p53 measurement" "response to high sodium diet" "Roifman syndrome" "level of ubiquitin-associated and SH3 domain-containing protein B in blood serum" @@ -34394,8 +34395,8 @@ "consortium member" "tartarate measurement" "level of actin-binding protein WASF3 in blood" - "neurodevelopmental disorder with absent speech and movement and behavioral abnormalities" "obsolete_olfactory pit" + "neurodevelopmental disorder with absent speech and movement and behavioral abnormalities" "level of leukocyte cell-derived chemotaxin-2 in blood serum" "CS57828" "incomplete abortion" @@ -34458,8 +34459,8 @@ "DnaJ homolog subfamily A member 2" "vitamin K-dependent clotting factors, combined deficiency of, type 2" "glycosyl-N-(2-hydroxynervonoyl)-sphingosine (d18:1/24:1(2OH)) measurement" - "coxsackievirus infectious disease" "obsolete_fetus" + "coxsackievirus infectious disease" "level of coiled-coil domain-containing protein 140 in blood serum" "prolactin-releasing peptide" "positive regulation of inflammatory response" @@ -34473,13 +34474,13 @@ "X-08402 measurement" "Glaucoma - sleep apnea" "Bone Anteversion" - "response to smoking cessation agent" - "Microcystic Renal Disease" - "xylosyl- and glucuronyltransferase LARGE1" "HCC0630" - "dendritic cell" + "xylosyl- and glucuronyltransferase LARGE1" "paternal 20q13.2q13.3 microdeletion syndrome" + "dendritic cell" "protein dpy-30" + "response to smoking cessation agent" + "Microcystic Renal Disease" "Geobacter sulfurreducens" "sulfotransferase 1C2" "phosphoenolpyruvate carboxykinase deficiency, cytosolic" @@ -34502,8 +34503,8 @@ "stromal membrane-associated protein 1 measurement" "Genetic cranial malformation" "RalBP1-associated Eps domain-containing protein 1" - "X-linked creatine transporter deficiency" "obsolete_entorhinal cortex" + "X-linked creatine transporter deficiency" "RUN and FYVE domain-containing protein 1 measurement" "SH3 and multiple ankyrin repeat domains protein 3" "Retinal pigment epithelial atrophy" @@ -34547,8 +34548,8 @@ "aspartic acid measurement" "level of alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase in blood serum" "oculogyric crisis" - "keratosis follicularis spinulosa decalvans" "tyrosine-protein kinase receptor UFO" + "keratosis follicularis spinulosa decalvans" "DNA-binding protein SATB2 measurement" "sodium-coupled monocarboxylate transporter 1" "obsolete inflammatory and toxic neuropathy" @@ -34673,8 +34674,8 @@ "Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature" "root structure" "premature ovarian failure 20" - "atorvastatin measurement" "obsolete lethal restrictive dermopathy" + "atorvastatin measurement" "formiminoglutamate measurement" "thyroid stimulating hormone measurement" "obsolete autosomal recessive optic atrophy" @@ -34737,9 +34738,9 @@ "lysosome-associated membrane glycoprotein 3 measurement" "alpha-N-acetylglucosaminidase activity" "Placental Hemangioma" - "Borderline Exocrine Pancreatic Neoplasm" "autosomal dominant sensory ataxia 1" "BV173" + "Borderline Exocrine Pancreatic Neoplasm" "erythrocyte differentiation" "fallopian tube leiomyosarcoma" "viral infection of central nervous system" @@ -34778,8 +34779,8 @@ "salicylurate measurement"@en "neurodevelopmental disorder with poor growth and behavioral abnormalities" "obsolete_Lhermitte-Duclos disease" - "deaf blind hypopigmentation syndrome, Yemenite type" "level of thialysine N-epsilon-acetyltransferase in blood" + "deaf blind hypopigmentation syndrome, Yemenite type" "hepatocyte growth factor activator measurement" "obsolete_isolated congenital alacrima" "level of pantetheinase in blood" @@ -34793,8 +34794,8 @@ "rheumatoid arthritis" "phosphoribosylpyrophosphate synthetase superactivity" "molar" - "flatfoot" "IFIH1-related type 1 interferonopathy" + "flatfoot" "acquired von willebrand syndrome" "obsolete_COG1-CDG" "sex ratio" @@ -34803,8 +34804,8 @@ "triglycerides in small LDL measurement " "obsolete_partial trisomy/tetrasomy of the short arm of chromosome 12" "artemin measurement" - "level of 60S acidic ribosomal protein P2 in blood serum" "Corpuscular Hemoglobin Concentration Distribution Width" + "level of 60S acidic ribosomal protein P2 in blood serum" "Rhamphochromis sp. 'chilingali'" "decadienylcarnitine measurement" "high affinity nerve growth factor receptor measurement" @@ -34834,8 +34835,8 @@ "salivary gland disease" "diffuse large B-cell lymphoma of the central nervous system" "Oguchi disease" - "merkel cell" "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4" + "merkel cell" "level of MAP/microtubule affinity-regulating kinase 3 in blood serum" "mucoepidermoid carcinoma" "protein disulfide-isomerase measurement" @@ -34851,9 +34852,9 @@ "Headache" "level of synaptotagmin-2 in blood serum" "protein p13 MTCP-1 measurement" + "serum immunoglobulin measurement" "Wide mouth" "level of Isoleucyl-Threonine in blood" - "serum immunoglobulin measurement" "myofibrillar myopathy 6" "thermal cycler" "Heterochromia iridis" @@ -34909,11 +34910,11 @@ "level of plakophilin-2 in blood serum" "branched-chain amino acid metabolic process" "acute orbital inflammation" + "EP300-interacting inhibitor of differentiation 3 measurement" + "coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial measurement" "NCI-H1355" "size" - "coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial measurement" "BFTC-909" - "EP300-interacting inhibitor of differentiation 3 measurement" "gamma-glutamylcysteine synthetase deficiency" "Congenital intestinal motility disorder" "platelet measurement" @@ -34960,8 +34961,8 @@ "hyperalphalipoproteinemia" "reduce cholesterol levels" "level of regulator of chromosome condensation in blood" - "response to low sodium diet" "YEPD" + "response to low sodium diet" "theca cell layer" "Summitt syndrome" "phosphatidylcholine 36:1 measurement"@en @@ -35204,8 +35205,8 @@ "lethal congenital glycogen storage disease of heart" "cyclic AMP-dependent transcription factor ATF-5" "invasive tubular breast carcinoma" - "obsolete_neuronal intranuclear inclusion disease" "level of steroidogenic acute regulatory protein, mitochondrial in blood serum" + "obsolete_neuronal intranuclear inclusion disease" "classic organic aciduria" "aortic measurement"@en "central bilateral macrogyria" @@ -35312,8 +35313,8 @@ "level of probable RNA-binding protein 18 in blood serum" "symphytine oxide" "Microcephaly - brain defect - spasticity - hypernatremia" - "obsolete_macrocephaly-developmental delay syndrome" "carcinoma of pharynx" + "obsolete_macrocephaly-developmental delay syndrome" "obsolete_blepharonasofacial malformation syndrome" "adenosylhomocysteinase" "adverse effect" @@ -35415,8 +35416,8 @@ "leukoencephalopathy, megalencephalic" "level of cotranscriptional regulator FAM172A in blood serum" "DNA-directed DNA/RNA polymerase mu measurement" - "Abnormal optic chiasm morphology" "hydantoin-5-propionate measurement" + "Abnormal optic chiasm morphology" "CCL2 measurement" "intra-abdominal hemangioma" "obsolete_distal trisomy 4q" @@ -35432,11 +35433,11 @@ "dizziness" "hearing loss, autosomal recessive" "3-hydroxy-3-methylglutaric acid" - "obsolete_fatal familial insomnia" "polypeptide N-acetylgalactosaminyltransferase 4" - "obsolete_utering smooth muscle cell" + "obsolete_fatal familial insomnia" "level of troponin T, cardiac muscle in blood serum" "Williams syndrome" + "obsolete_utering smooth muscle cell" "pyridoxamine measurement"@en "familial primary hypomagnesemia" "severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion" @@ -35471,8 +35472,8 @@ "level of secernin-3 in blood" "childhood acute lymphoblastic leukemia" "mitogen-activated protein kinase 10" - "level of pantetheine hydrolase VNN2 in blood" "lipemic index" + "level of pantetheine hydrolase VNN2 in blood" "nicotine metabolite ratio" "intellectual disability-cardiac anomalies-short stature-joint laxity syndrome" "Erythema" @@ -35481,8 +35482,8 @@ "fC-Seal" "obsolete_disorder of glyoxylate metabolism" "Plantar Fibromatosis" - "level of voltage-dependent calcium channel subunit alpha-2/delta-3 in blood serum" "polycystic kidney disease 6 with or without polycystic liver disease" + "level of voltage-dependent calcium channel subunit alpha-2/delta-3 in blood serum" "obsolete_blood" "optic nerve astrocytoma" "2-oxindole-3-acetate measurement" @@ -35582,11 +35583,11 @@ "obsolete_dentin dysplasia type I" "root meristem" "transmembrane protein 87B measurement" + "obsolete_syndromic epicanthus" "uncharacterized protein KIAA1467 measurement" "NCI-H1395" "mid whole plant fruit ripening stage" "epidermolysis bullosa simplex 6, generalized, with scarring and hair loss" - "obsolete_syndromic epicanthus" "BHY" "progressive supranuclear palsy-progressive non-fluent aphasia syndrome" "level of vacuolar protein sorting-associated protein 37A in blood" @@ -35700,8 +35701,8 @@ "level of frataxin, mitochondrial in blood serum" "killer cell immunoglobulin-like receptor 2DL5A" "dihydrobiopterin measurement"@en - "obsolete_FRAXF syndrome" "radial nerve" + "obsolete_FRAXF syndrome" "LCAT deficiency" "Mus musculus castaneus" "concentration of small VLDL particles" @@ -35782,8 +35783,8 @@ "Rare genetic tumor" "syringoma" "familial multiple nevi flammei" - "heat shock 70 kDa protein 1-like measurement" "curator" + "heat shock 70 kDa protein 1-like measurement" "hypomandibular faciocranial dysostosis" "level of tumor necrosis factor receptor superfamily member 3 in blood serum" "Rhagoletis pomonella" @@ -35824,8 +35825,8 @@ "HCC1195" "obsolete_inferior colliculus" "obsolete_cockayne syndrome" - "obsolete_spinal muscular atrophy with respiratory distress" "propionic acid measurement"@en + "obsolete_spinal muscular atrophy with respiratory distress" "obsolete_response to montelukast" "biomolecular annotation design" "smoking behavior" @@ -35858,8 +35859,8 @@ "palmoplantar keratoderma-esophageal carcinoma syndrome" "alphapapillomavirus 9 virus seropositivity" "cryptococcal meningitis" - "JHH-2" "Canton-S" + "JHH-2" "tryptase delta" "level of tRNA 2'-phosphotransferase 1 in blood serum" "spinocerebellar ataxia type 10" @@ -35876,9 +35877,9 @@ "activator of apoptosis harakiri" "X-08988 measurement" "adrenogenital syndrome" + "Glomerulonephritis - sparse hair - telangiectasis" "RK-13" "obsolete_forelimb" - "Glomerulonephritis - sparse hair - telangiectasis" "Brain Stem Hemorrhage, Traumatic" "level of 28 kDa heat- and acid-stable phosphoprotein in blood" "Sarcomatoid Carcinoma" @@ -35908,10 +35909,10 @@ "Rh isoimmunization" "Karsch-Neugebauer syndrome" "carcinoma of liver and intrahepatic biliary tract" - "susceptibility to hepatitis A infection measurement" "blastocyst" "phosphoethanolamine/phosphocholine phosphatase" "dilated cardiomyopathy 1A" + "susceptibility to hepatitis A infection measurement" "GA-binding protein subunit beta-1" "level of runt-related transcription factor 3 in blood serum" "level of transmembrane protein 190 in blood serum" @@ -35999,10 +36000,10 @@ "caudate nucleus volume" "guanylyl cyclase-activating protein 2" "3-Indolepropionic acid to Taurocholic acid sodium salt hydrate ratio" - "level of beta-defensin 110 in blood serum" "level of retinoblastoma-like protein 1 in blood serum" "juvenile absence epilepsy" "chorionic villus" + "level of beta-defensin 110 in blood serum" "obsolete_EAST syndrome" "neutral lipid storage myopathy" "level of disintegrin and metalloproteinase domain-containing protein 15 in blood" @@ -36014,8 +36015,8 @@ "astrocyte" "GM17136" "10x Xenium"@en - "benign neoplasm of parathyroid gland" "beriberi" + "benign neoplasm of parathyroid gland" "ectodysplasin-a, secreted form measurement" "Rare odontal or periodontal disorder" "prolactin producing pituitary tumor" @@ -36068,12 +36069,12 @@ "obsolete_IMAGe syndrome" "piwi-like protein 1 measurement" "hereditary spastic paraplegia 73" - "lysophosphatidylcholine 18:0" - "complement factor H-related proteins measurement" "LDL peak particle diameter measurement" + "lysophosphatidylcholine 18:0" "HCC1162" "Vissers-Bodmer syndrome" "dihydropyrimidinase" + "complement factor H-related proteins measurement" "dysthymic disorder" "level of gamma-glutamylcyclotransferase in blood" "sulfotransferase 2B1" @@ -36116,12 +36117,12 @@ "alive (follow-up status)" "obsolete_axial spondylometaphyseal dysplasia" "Male infertility with spermatogenesis disorder due to single gene mutation" + "obsolete_non-acquired combined pituitary hormone deficiency" "familial primary hypomagnesemia with normocalciuria and normocalcemia" "mesothelin-like protein" "segmental progressive overgrowth syndrome with fibroadipose hyperplasia" - "obsolete_non-acquired combined pituitary hormone deficiency" - "San Eleno ecotype" "X-12749 measurement" + "San Eleno ecotype" "Behcet's syndrome" "Varicella Zoster infection" "procollagen-lysine,2-oxoglutarate 5-dioxygenase 2" @@ -36313,9 +36314,9 @@ "level of phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein in blood" "congenital heart defect-round face-developmental delay syndrome" "obsolete_congenital dyserythropoietic anemia" + "Thymic Sarcomatoid Carcinoma" "Patellar dislocation" "regulator of G-protein signaling 16" - "Thymic Sarcomatoid Carcinoma" "DAN-G" "T-cell-specific surface glycoprotein CD28" "gastric cancer" @@ -36389,12 +36390,12 @@ "Alphavirus infectious disease" "M14" "obsolete qualitative or quantitative defects of fukutin" - "ergothioneine" "Blepharophimosis - ptosis - esotropia - syndactyly - short stature" + "ergothioneine" "coisogenic strain" + "level of pyruvate carboxylase, mitochondrial in blood serum" "floral organ formation stage" "NHP2-like protein 1" - "level of pyruvate carboxylase, mitochondrial in blood serum" "carcinoma, non-human animal" "pituitary homeobox 3" "integumental cell" @@ -36472,8 +36473,8 @@ "level of tRNA (cytosine(72)-C(5))-methyltransferase NSUN6 in blood serum" "OAW42" "hypoparathyroidism-retardation-dysmorphism syndrome" - "basophil measurement" "Amelogenesis imperfecta and gingival hyperplasia syndrome" + "basophil measurement" "heat shock 70 kDa protein 6 measurement" "Trichiasis" "NKG2-E type II integral membrane protein measurement" @@ -36497,8 +36498,8 @@ "gastric inhibitory polypeptide" "Athabaskan brainstem dysgenesis syndrome" "level of small nuclear ribonucleoprotein G in blood serum" - "amygdala volume change measurement"@en "level of KxDL motif-containing protein 1 in blood serum" + "amygdala volume change measurement"@en "coloboma, ocular, autosomal dominant" "colipase measurement" "epididymal secretory protein E3-beta measurement" @@ -36556,8 +36557,8 @@ "Rare disease with thoracic aortic aneurysm and aortic dissection" "Sarcomatoid Mesothelioma" "obsolete_middle temporal gyrus" - "cellular modification design" "purine measurement"@en + "cellular modification design" "AMSH-like protease measurement" "Loeys-Dietz syndrome" "brachydactyly-mesomelia-intellectual disability-heart defects syndrome" @@ -36765,10 +36766,10 @@ "Carey-Fineman-Ziter syndrome" "potassium bromate" "Myelofibrosis" - "obsolete_renal tubular dysgenesis of genetic origin" "arthrogryposis, distal, type 2B3" - "plastin-1 measurement" + "obsolete_renal tubular dysgenesis of genetic origin" "alive with disease" + "plastin-1 measurement" "size fractionation" "level of myeloid-derived growth factor in blood serum" "Hsp70-binding protein 1" @@ -36822,9 +36823,9 @@ "obsolete_distal trisomy 6q" "peptide chain release factor 1-like, mitochondrial" "obsolete_early-onset Lafora body disease" + "obsolete_granular corneal dystrophy type II" "cholesterol to total lipids in small LDL percentage " "dorsal raphe nucleus" - "obsolete_granular corneal dystrophy type II" "ML-DmBG1-c1" "Mycoplasma gallisepticum" "spondyloepiphyseal dysplasia" @@ -36878,8 +36879,8 @@ "gut-associated lymphoid tissue macrophage" "endrin measurement"@en "level of mucin-like protein 3 in blood" - "obsolete_sulfite oxidase deficiency due to molybdenum cofactor deficiency" "stabilin-2 measurement" + "obsolete_sulfite oxidase deficiency due to molybdenum cofactor deficiency" "level of bone morphogenetic protein 5 in blood serum" "retinoblastoma-like protein 2" "orofaciodigital syndrome III" @@ -36941,8 +36942,8 @@ "SNU-719" "beta-defensin 103 measurement" "telencephalon neural crest" - "obsolete_anal fin" "phospholipase B-like 1" + "obsolete_anal fin" "endoplasmic reticulum aminopeptidase 2" "esophageal varices" "trait in response to thiazide" @@ -37105,8 +37106,8 @@ "obsolete_metaphyseal chondrodysplasia, Jansen type" "nanomolar" "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1" - "amyotrophic lateral sclerosis type 2, juvenile" "severe pre-eclampsia" + "amyotrophic lateral sclerosis type 2, juvenile" "microsporidiosis" "heart lipoma" "level of ribonuclease P protein subunit p30 in blood serum" @@ -37122,10 +37123,10 @@ "polyadenylate-binding protein-interacting protein 1 measurement" "heparan sulfate glucosamine 3-O-sulfotransferase 4" "encephalopathy due to sulfite oxidase deficiency" - "Caroli Disease" "triglycerides in IDL measurement" - "granulosa cell tumor" + "Caroli Disease" "His-Ala" + "granulosa cell tumor" "HCC2688" "level of leukocyte-associated immunoglobulin-like receptor 1 in blood serum" "phosphatidylcholine 36:2 measurement"@en @@ -37141,9 +37142,9 @@ "gamma-glutamylglutamate measurement" "Non-familial restrictive cardiomyopathy" "phosphatidylcholine acyl-alkyl C38:5 measurement" - "N-acetyl-cadaverine measurement" "bile acid measurement" "ornithine decarboxylase" + "N-acetyl-cadaverine measurement" "neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment" "SW780" "level of gremlin-2 in blood serum" @@ -37159,13 +37160,13 @@ "level of synaptotagmin-6 in blood serum" "scopolamine" "Thymic Small Cell Carcinoma" - "X-24972 measurement" "level of coiled-coil domain-containing protein 9 in blood serum" "general vesicular transport factor p115" "Apis mellifera mellifera" + "X-24972 measurement" "Personality disorder" - "level of carcinoembryonic antigen-related cell adhesion molecule 7 in blood serum" "cytochrome c oxidase subunit 5B, mitochondrial" + "level of carcinoembryonic antigen-related cell adhesion molecule 7 in blood serum" "heritable pulmonary arterial hypertension" "oligodendroglioma" "GM17224" @@ -37196,10 +37197,10 @@ "obsolete_congenital patella dislocation" "hematopoietic progenitor cell antigen CD34 measurement" "septopreoptic holoprosencephaly" - "SUM185PE" + "homogentisate measurement" "ancylostomiasis" + "SUM185PE" "level of protein FAM3A in blood serum" - "homogentisate measurement" "rRNA methyltransferase 2, mitochondrial" "blue cone monochromacy" "diabetes, deafness, developmental delay, and short stature syndrome" @@ -37227,8 +37228,8 @@ "N-acetyl-D-glucosamine kinase measurement" "Axin interactor, dorsalization-associated protein" "deep seated dermatophytosis" - "pseudohypoparathyroidism type 1C" "Autosomal recessive cerebellar ataxia - psychomotor retardation" + "pseudohypoparathyroidism type 1C" "thyroid follicle" "GM14474" "level of annexin A10 in blood serum" @@ -37240,8 +37241,8 @@ "cervical carcinoma cell line" "autosomal recessive myogenic arthrogryposis multiplex congenita" "1-linoleoyl-2-arachidonoyl-GPC (18:2/20:4n6) measurement" - "obsolete_mediastinum" "B-lymphoblastic leukemia/lymphoma with hypodiploidy" + "obsolete_mediastinum" "chemical treatment" "Peters plus syndrome" "X-linked intellectual disability - macrocephaly - macroorchidism" @@ -37288,8 +37289,8 @@ "amyloid beta A4 precursor protein-binding family B member 1 measurement" "inositol-trisphosphate 3-kinase C" "acute lymphoblastic leukemia" - "Vomiting" "erythrasma" + "Vomiting" "break repair meiotic recombinase recruitment factor 1" "galectin-8 measurement" "GM17292" @@ -37301,9 +37302,9 @@ "obsolete_congenital macroglossia" "homeobox protein MSX-2" "mannose-binding lectin deficiency" + "total trans-18:1 fatty acid measurement" "polar aprotic solvent" "protein YIPF6" - "total trans-18:1 fatty acid measurement" "schizophrenia, susceptibility to" "lymph node disorder" "enamel" @@ -37316,11 +37317,11 @@ "obsolete_congenital absence/hypoplasia of fingers excluding thumb" "titin" "lymphatic malformation 12" - "obsolete_TARP syndrome" "level of ubiquitin domain-containing protein 2 in blood serum" "X-11850 measurement" - "obsolete_nonepidermolytic palmoplantar keratoderma" + "obsolete_TARP syndrome" "obsolete_Inositol measurement" + "obsolete_nonepidermolytic palmoplantar keratoderma" "disorder of folate metabolism and transport" "Nephrogenic rest" "pulmonary fibrosis and/or bone marrow failure, telomere-related" @@ -37333,8 +37334,8 @@ "level of protein kinase C and casein kinase substrate in neurons protein 3 in blood serum" "OCI-AML2" "obsolete_spondyloepimetaphyseal dysplasia, Irapa type" - "X-linked thrombocytopenia with normal platelets" "treatment" + "X-linked thrombocytopenia with normal platelets" "femtoliter" "paranasal sinus disease" "level of interferon regulatory factor 4 in blood serum" @@ -37379,8 +37380,8 @@ "hemochromatosis type 2B" "HCC2935" "Bartholin gland benign neoplasm" - "pregnenolone 16alpha-carbonitrile" "Monosomy 9p" + "pregnenolone 16alpha-carbonitrile" "Hypoplastic scapulae" "level of tyrosine--tRNA ligase, cytoplasmic in blood" "level of zymogen granule membrane protein 16 in blood serum" @@ -37519,8 +37520,8 @@ "level of zinc finger and BTB domain-containing protein 17 in blood" "mucosa-associated lymphoid tissue macrophage" "obsolete_acheiria, bilateral" - "obsolete_mitochondrial protein import disorder" "hyperphalangy, unilateral" + "obsolete_mitochondrial protein import disorder" "synaptotagmin-6" "tetrasomy" "catalase measurement" @@ -37542,9 +37543,9 @@ "bordetellosis" "DnaJ homolog subfamily C member 10 measurement" "protein phosphatase 1B" + "X-12230 measurement" "MDAMB415" "autosomal recessive ataxia, Beauce type" - "X-12230 measurement" "transcription profiling by high throughput sequencing" "arthritis, sacroiliac" "breast carcinoma" @@ -37571,9 +37572,9 @@ "obsolete_microcytic anemia with liver iron overload" "1-palmitoyl-GPI (16:0) measurement" "triacylglycerol 51:2 measurement" + "Ficoll-Hypaque method" "macrocephaly-autism syndrome" "intellectual disability-facial dysmorphism-hand anomalies syndrome" - "Ficoll-Hypaque method" "Methicillin-Resistant Staphylococcus Aureus Pneumonia" "lipoma of face" "vaginal carcinoma" @@ -37676,8 +37677,8 @@ "SNU-C1" "beta-defensin 106 measurement" "Pseudomonas putida" - "response to diet"@en "egg cell" + "response to diet"@en "mosaic trisomy 18" "receptor-transporting protein 4" "obsolete_non neural ectoderm" @@ -37843,12 +37844,12 @@ "heparan sulfate glucosamine 3-O-sulfotransferase 5" "Charcot-Marie-Tooth disease, demyelinating, type 1J" "Cestode Infections" + "obsolete_hydrolethalus syndrome" "S-180" "Bartholin gland adenomyoma" "urinary sodium measurement"@en - "obsolete_hydrolethalus syndrome" - "level of phospholipase A2 in blood" "vitamin D metabolic process" + "level of phospholipase A2 in blood" "drug-induced autoimmune hemolytic anemia" "level of microtubule-associated proteins 1A/1B light chain 3 beta 2 in blood serum" "TE85" @@ -37860,8 +37861,8 @@ "rhombomere 8" "Rhizobium etli CFN 42" "Narrow face" - "chromosome 17p13.3 duplication syndrome" "beta-1,4-glucuronyltransferase 1 measurement" + "chromosome 17p13.3 duplication syndrome" "BMP receptor type-1B" "level of plasma membrane calcium-transporting ATPase 4 in blood" "obsolete_colorectal tumor" @@ -37885,12 +37886,12 @@ "level of synaptotagmin-7 in blood serum" "level of Ser-Leu in blood" "ubiquitin carboxyl-terminal hydrolase 1" - "obsolete_familial infantile gigantism" "X-24980 measurement" + "obsolete_familial infantile gigantism" "Borderline personality disorder" "Haemophilus ducreyi 35000HP" - "obsolete_spondyloepimetaphyseal dysplasia with multiple dislocations" "level of leukocyte-associated immunoglobulin-like receptor 2 in blood serum" + "obsolete_spondyloepimetaphyseal dysplasia with multiple dislocations" "obsolete uniparental disomy of maternal origin" "obsolete overgrowth/obesity syndrome" "Duvenhage virus" @@ -37903,8 +37904,8 @@ "obsolete_Primary familial polycythemia" "neuropilin-1 measurement" "Arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 3" - "level of glycine N-acyltransferase-like protein 2 in blood serum" "obsolete_GM1 gangliosidosis type 1" + "level of glycine N-acyltransferase-like protein 2 in blood serum" "hypomagnesemia, seizures, and intellectual disability" "congenital sucrase-isomaltase deficiency with minimal starch tolerance" "HOS" @@ -37912,8 +37913,8 @@ "protein JTB" "diacylglycerol 30:1 measurement" "SW837" - "Ralstonia pickettii" "cholesteryl esters to total lipids in medium HDL percentage " + "Ralstonia pickettii" "microphthalmia with limb anomalies" "immunodeficiency-related disorder" "level of glyoxylate reductase/hydroxypyruvate reductase in blood serum" @@ -37960,8 +37961,8 @@ "inherited prion disease" "TraDIS sequencing" "follicular dendritic cell" - "SUM190PT" "anisakiasis" + "SUM190PT" "benign neoplasm of ear" "level of clathrin heavy chain 1 in blood serum" "nevoid basal cell carcinoma syndrome" @@ -38000,9 +38001,9 @@ "Charcot-Marie-Tooth disease type 2A2" "pneumoviridae seropositivity" "colorectal adenoma" + "gender identity disorder" "anal canal" "spondylocarpotarsal synostosis syndrome" - "gender identity disorder" "coronary atherosclerosis" "blastema" "Truncus arteriosus" @@ -38015,11 +38016,11 @@ "Cleft palate - large ears - small head" "idiopathic bronchiectasis" "X-23590 measurement" + "exanthem" "acute monocytic leukemia" "glucose-galactose malabsorption" "obesity due to prohormone convertase I deficiency" "inherited acute myeloid leukemia" - "exanthem" "Recurrent tonsillitis" "G4 ChIP-seq" "Familial afibrinogenemia" @@ -38027,8 +38028,8 @@ "obsolete_NCIH460" "acyl-protein thioesterase 2" "consomic strain" - "obsolete_presumptive rhombomere 6" "leukodystrophy, hypomyelinating, 15" + "obsolete_presumptive rhombomere 6" "level of pterin-4-alpha-carbinolamine dehydratase in blood serum" "Drosophila sechellia" "pectoral muscle" @@ -38367,9 +38368,9 @@ "cyclic AMP-dependent transcription factor ATF-1" "level of phospholipid phosphatase 4 in blood serum" "leucine-rich repeat and calponin homology domain-containing protein 4 measurement" + "obsolete_Dubowitz syndrome" "listeria seropositivity" "Blepharophimosis - radioulnar synostosis" - "obsolete_Dubowitz syndrome" "ovarian endometrial cancer" "X-21733 measurement" "neutrophil count" @@ -38390,8 +38391,8 @@ "adult spinal cord glioblastoma" "level of coagulation factor XI in blood serum" "U6 snRNA-associated Sm-like protein LSm1" - "ovarian clear cell adenocarcinoma" "level of ribosome biogenesis protein SPATA5 in blood serum" + "ovarian clear cell adenocarcinoma" "blood strontium measurement"@en "hyperlipoproteinemia type V" "hindlimb" @@ -38417,9 +38418,9 @@ "carcinoma in situ of cecum" "CS57595" "ubiquitin D" + "Autosomal recessive spastic paraplegia type 45" "G-361" "level of activity-regulated cytoskeleton-associated protein in blood serum" - "Autosomal recessive spastic paraplegia type 45" "latent syphilis" "level of phospholipase A1 member A in blood serum" "level of testis-expressed protein 29 in blood serum" @@ -38476,8 +38477,8 @@ "muscular hypertrophy-hepatomegaly-polyhydramnios syndrome" "mongolian spot" "fibroblast growth factor-binding protein 2" - "Keratoderma hereditarium mutilans with ichthyosis" "argininate measurement" + "Keratoderma hereditarium mutilans with ichthyosis" "2-acetamidophenol sulfate measurement" "1-(1-enyl-palmitoyl)-2-arachidonoyl-GPC (P-16:0/20:4) measurement" "MDAMB435" @@ -38506,9 +38507,9 @@ "oxysterol-binding protein-related protein 11 measurement" "Methicillin-Susceptible Staphylococcus Aureus Infection" "brain astrocytoma" + "Rare genetic parkinsonian disorder" "long COVID-19" "cyclic AMP-dependent transcription factor ATF-3" - "Rare genetic parkinsonian disorder" "type 1 diabetes mellitus 22" "Sulfolobus acidocaldarius" "disease course" @@ -38559,8 +38560,8 @@ "neurodevelopmental disorder with microcephaly and dysmorphic facies" "obsolete_congenital sucrase-isomaltase deficiency with starch and lactose intolerance" "sample barcode size" - "tobramycin" "syringol sulfate measurement" + "tobramycin" "level of baculoviral IAP repeat-containing protein 7 in blood serum" "ubiquitin-conjugating enzyme E2 D3" "level of cytosolic phospholipase A2 in blood" @@ -38584,8 +38585,8 @@ "Prochlorococcus marinus subsp. pastoris str. CCMP1986" "systemic lupus erythematosus, susceptibility to, 1" "fibroblast growth factor 3" - "presumptive midbrain" "arfaptin-1 measurement" + "presumptive midbrain" "obsolete_primary failure of tooth eruption" "sebaceous breast carcinoma" "fumarylacetoacetase" @@ -38607,16 +38608,16 @@ "porphyria" "obsolete_laminopathy type Decaudain-Vigouroux" "beta-defensin 107 measurement" + "Chlamydiaceae Infections" "pediatric osteosarcoma" "methylmercuric dicyanamide measurement" "level of Z-DNA-binding protein 1 in blood" "anti-Kaposi's sarcoma-associated herpesvirus antibody measurement"@en "obsolete_pelvic fin" "neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities" + "indeterminate colitis" "eyelid disease" - "Chlamydiaceae Infections" "level of hemoglobin subunit epsilon in blood serum" - "indeterminate colitis" "trait in response to mercaptopurine" "neurofascin measurement" "level of dual specificity mitogen-activated protein kinase kinase 5 in blood serum" @@ -38760,9 +38761,9 @@ "level of pterin-4-alpha-carbinolamine dehydratase 2 in blood serum" "phosphatidylcholine O-34:0" "heparan-sulfate 6-O-sulfotransferase 2" + "AtT-20" "liver iron measurement" "semaphorin-3C" - "AtT-20" "examination for neoplasm"@en "autosomal semi-dominant severe lipodystrophic laminopathy" "succinate measurement" @@ -38794,8 +38795,8 @@ "phosphatidylcholine O-42:0" "inorganic ion measurement"@en "obsolete_isolated delta-storage pool disease" - "obsolete_partial deletion of chromosome 11" "gamma-glutamylalanine measurement" + "obsolete_partial deletion of chromosome 11" "chronic diarrhea with villous atrophy" "Trichodysplasia - xeroderma" "level of FYVE, RhoGEF and PH domain-containing protein 3 in blood" @@ -38832,8 +38833,8 @@ "uridine-cytidine kinase 2 measurement" "spastic paraplegia 85, autosomal recessive" "cGMP-specific 3',5'-cyclic phosphodiesterase measurement" - "obsolete_split hand" "level of protein sprouty homolog 2 in blood" + "obsolete_split hand" "Hypertrichotic osteochondrodysplasia, Cantu type" "CWF19-like protein 1" "cervical intraepithelial neoplasia" @@ -38849,9 +38850,9 @@ "obsolete_embryonic central brain mushroom body" "Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments" "diacylglycerol 30:0 measurement" + "OCI-LY10" "main bronchus" "neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties" - "OCI-LY10" "cholesteryl esters to total lipids in medium LDL percentage " "Joubert syndrome 29" "ulcerative colitis" @@ -38893,9 +38894,9 @@ "Miyoshi muscular dystrophy 3" "poly(U)-binding-splicing factor PUF60" "Colorectal Diffuse Large B-Cell Lymphoma" + "teratogenicity" "UACC-62" "vulvar squamous neoplasm" - "teratogenicity" "mesomelic dwarfism, Nievergelt type" "calvarial doughnut lesions-bone fragility syndrome" "obsolete_patella aplasia/hypoplasia, unilateral" @@ -38919,16 +38920,16 @@ "programmed cell death protein 5 measurement" "fluid shear stress"@en "Male infertility due to gonadal dysgenesis" + "obsolete_deafness-infertility syndrome" "lymphatic vessel neoplasm" "acute leukemia of ambiguous lineage" - "obsolete_deafness-infertility syndrome" "JK1107" + "X-linked dominant intellectual disability - epilepsy syndrome" "validation by reverse transcription PCR design" - "congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome" "Lacrimoauriculodentodigital syndrome" + "congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome" "semaphorin-3B measurement" "ARF GTPase-activating protein GIT1" - "X-linked dominant intellectual disability - epilepsy syndrome" "level of AP-1 complex subunit gamma-like 2 in blood serum" "cranium" "anus basaloid carcinoma" @@ -38943,14 +38944,14 @@ "Gr1-high classical monocyte" "level of carboxypeptidase Q in blood" "Kit-positive, Sca1-positive common lymphoid progenitor" - "aldehyde dehydrogenase, dimeric NADP-preferring measurement" "OTU domain-containing protein 3" "level of annexin A13 in blood serum" "GM2 gangliosidosis" - "apolipoprotein C measurement"@en + "aldehyde dehydrogenase, dimeric NADP-preferring measurement" "periosteum" "acute synovitis" "Tomato ringspot virus" + "apolipoprotein C measurement"@en "chromosome 18q deletion syndrome" "chloromethiuron measurement" "4-(4-methylpiperazin-1-yl)-7-(trifluoromethyl)pyrrolo[1,2-a]quinoxaline dimaleate" @@ -39030,15 +39031,15 @@ "Cataract - deafness - hypogonadism" "cardiomyopathy, familial hypertrophic, 28" "sleep duration" - "obsolete_patella aplasia/hypoplasia" "level of nuclear factor of activated T-cells 5 in blood" "intervertebral disk" + "obsolete_patella aplasia/hypoplasia" "susceptibility to chronic sinus infection measurement" "level of 5'(3')-deoxyribonucleotidase, mitochondrial in blood serum" "Trichodermodysplasia - dental alterations" - "tethered spinal cord syndrome" "Ras-related protein Rab-3C" "obsolete_whole organism" + "tethered spinal cord syndrome" "amenorrhea"@en "3-methyladipic acid" "glutathione s-transferase a3 measurement" @@ -39134,8 +39135,8 @@ "level of 39S ribosomal protein L38, mitochondrial in blood serum" "striatal degeneration, autosomal dominant" "vaginal adenoma" - "hybrid selection of targets" "Fluidigm C1-based dissociation" + "hybrid selection of targets" "YCC1" "white matter growth measurement" "HG02840" @@ -39213,8 +39214,8 @@ "male reproductive system neoplasm" "obsolete_geleophysic dysplasia" "level of barttin in blood" - "protein FAM210A" "Sono-Seq" + "protein FAM210A" "ML-DmD11" "Shoulder girdle muscle weakness" "metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome" @@ -39268,8 +39269,8 @@ "Cowden syndrome 5" "vulvar trichoepithelioma" "mg(14:0/0:0/0:0) measurement" - "basal cell carcinoma, susceptibility to" "Ascaridida infectious disease" + "basal cell carcinoma, susceptibility to" "level of neuronal regeneration-related protein in blood serum" "level of E3 ubiquitin-protein ligase rififylin in blood serum" "thioredoxin domain-containing protein 3" @@ -39277,8 +39278,8 @@ "chemokine-like protein TAFA-3" "obsolete_autosomal dominant rhegmatogenous retinal detachment" "homer protein homolog 3" - "micropapillary urothelial carcinoma" "obsolete_autosomal recessive spastic paraplegia type 70" + "micropapillary urothelial carcinoma" "heptachlor epoxide measurement"@en "level of protein deltex-2 in blood" "dual specificity protein phosphatase 18" @@ -39435,9 +39436,9 @@ "dihydroferulic acid" "ovarian myxoid liposarcoma" "eukaryotic-type large ribosomal subunit protein uL18" - "Chondrodysplasia - disorder of sex development" "level of glutathione-requiring prostaglandin D synthase in blood serum" "leukocyte" + "Chondrodysplasia - disorder of sex development" "E3 ubiquitin-protein ligase MYCBP2" "intellectual disability-polydactyly-uncombable hair syndrome" "TERF1-interacting nuclear factor 2" @@ -39488,8 +39489,8 @@ "disease related to hematopoietic stem cell transplant" "25-hydroxycholesterol" "Proximal muscle weakness in lower limbs" - "prevotella seropositivity" "X-12830 measurement" + "prevotella seropositivity" "level of translation initiation factor IF-3, mitochondrial in blood serum" "sarcomatoid squamous cell carcinoma" "thymoma type B" @@ -39625,8 +39626,8 @@ "localised scleroderma" "TK22" "level of low-density lipoprotein receptor-related protein 12 in blood serum" - "nonischemic cardiomyopathy" "neurogenic locus notch homolog protein 2 measurement" + "nonischemic cardiomyopathy" "SARS coronavirus Tor2" "peptidyl-prolyl cis-trans isomerase FKBP14" "MELAS syndrome" @@ -39642,9 +39643,9 @@ "PHAVER syndrome" "level of tryptophan 2,3-dioxygenase in blood serum" "X-linked cone-rod dystrophy 1" - "polypeptide N-acetylgalactosaminyltransferase 3 measurement" "growth/differentiation factor 15" "N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4" + "polypeptide N-acetylgalactosaminyltransferase 3 measurement" "Euphorbia esula" "uterine leiomyosarcoma cell line" "Poor head control" @@ -39681,9 +39682,9 @@ "nephrotic syndrome, type 22" "aortic valve atresia" "Sandhoff disease, infantile form" - "chlorophacinone measurement" "demyelinating disease" "nemaline myopathy" + "chlorophacinone measurement" "obsolete_somite 4" "acute myelomonocytic leukemia" "benign metastasizing leiomyoma" @@ -39735,8 +39736,8 @@ "risk factor" "protein kinase C and casein kinase substrate in neurons protein 2" "orbital cancer" - "level of protein arginine N-methyltransferase 3 in blood serum" "level of astrocytic phosphoprotein PEA-15 in blood serum" + "level of protein arginine N-methyltransferase 3 in blood serum" "level of insulin growth factor-like family member 3 in blood serum" "ciliary neurotrophic factor receptor subunit alpha measurement" "surgical resection" @@ -39778,10 +39779,10 @@ "15-methylpalmitate measurement" "3-Indolepropionic acid to S-(5-Adenosy) -L-homocysteine ratio" "obsolete_American" - "Pericardial constriction" + "familial osteosclerosis" "acetate" + "Pericardial constriction" "tooth agenesis, selective, 2" - "familial osteosclerosis" "thoracolaryngopelvic dysplasia" "Pulmonary arterial hypertension associated with congenital heart disease" "distal trisomy 17q" @@ -39845,8 +39846,8 @@ "Autosomal recessive systemic lupus erythematosus" "benign reproductive system neoplasm" "level of perilipin-3 in blood serum" - "postaxial polydactyly type B" "blood vanadium measurement"@en + "postaxial polydactyly type B" "pancreatic adenocarcinoma" "obsolete_9p13 microdeletion syndrome" "level of 39S ribosomal protein L52, mitochondrial in blood serum" @@ -39864,16 +39865,16 @@ "Microlissencephaly type B" "protein disulfide-isomerase A5" "obsolete_Siegler-Brewer-Carey syndrome" - "CD81 molecule" "tag protein fusion library" + "CD81 molecule" "pressure unit" "CS57598" "ubiquitin-conjugating enzyme E2 B" - "Atrial septal defect - atrioventricular conduction defects" "leukoencephalopathy with vanishing white matter 1" "Penile hypospadias" "Epicanthus" "level of ankyrin repeat family A protein 2 in blood" + "Atrial septal defect - atrioventricular conduction defects" "G112" "beta-soluble NSF attachment protein measurement" "Amphiura filiformis" @@ -39936,13 +39937,13 @@ "assay by instrument" "serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha" "X-12244--N-acetylcarnosine measurement" - "SPARE" "obsolete_Schnyder corneal dystrophy" + "SPARE" "obsolete_benign adult familial myoclonic epilepsy" - "lateral cord surface glial cell" "cholesterol to total lipids in very small VLDL percentage " - "Cernunnos-XLF deficiency" + "lateral cord surface glial cell" "ML-DmD16-c3" + "Cernunnos-XLF deficiency" "graft-versus-host disease, susceptibility to" "Vaginal mucosal ulceration" "mg(18:1/0:0/0:0) measurement" @@ -39982,13 +39983,13 @@ "articular cartilage disorder" "positive regulation of renal sodium excretion" "Jervell and Lange-Nielsen syndrome 2" - "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B" "stomach rupture" "autosomal recessive spastic paraplegia type 69" "cycloheximide" + "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B" "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome" - "arteriovenous hemangioma/malformation" "cystatin-S measurement" + "arteriovenous hemangioma/malformation" "arthrogryposis-like hand anomaly-sensorineural deafness syndrome" "purine nucleoside phosphorylase measurement" "Bartter syndrome type 4" @@ -40107,8 +40108,8 @@ "Fibrous Hamartoma of Infancy" "epispadias" "tumor necrosis factor receptor superfamily member EDAR measurement" - "benign paroxysmal tonic upgaze of childhood with ataxia" "1-methylguanidine measurement" + "benign paroxysmal tonic upgaze of childhood with ataxia" "obsolete_autosomal recessive proximal renal tubular acidosis" "obsolete_constitutional dyserythropoietic anemia" "level of carnitine O-palmitoyltransferase 1, muscle isoform in blood serum" @@ -40127,8 +40128,8 @@ "corm" "pancreatic acinus" "obsolete_hereditary folate malabsorption" - "conduction system disorder" "leucine-rich repeat neuronal protein 1 measurement" + "conduction system disorder" "L-phenylalanine metabolic process" "congenital disorder of glycosylation, type iit" "methylcobalamin deficiency type cblDv1" @@ -40154,21 +40155,21 @@ "stamen" "level of phosphomannomutase 2 in blood" "nephrin" + "obsolete_pseudoaminopterin syndrome" "Phodopus sungorus" "response to immunochemotherapy" "platelet-type bleeding disorder 9" "BolA-like protein 2" "CUB and zona pellucida-like domain-containing protein 1 measurement" "GM06994" - "obsolete_pseudoaminopterin syndrome" "generalized epilepsy with febrile seizures plus, type 2" "Drosophila melanogaster" "post-operative delirium" "GTP-binding protein SAR1a" "obsolete_benign partial epilepsy of infancy with complex partial seizures" - "X-24804 measurement" "level of zinc finger protein 230 in blood serum" "level of biogenesis of lysosome-related organelles complex 1 subunit 2 in blood serum" + "X-24804 measurement" "level of Phosphatidylethanolamine (18:1_0:0) in blood serum" "Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes" "level of UPF0235 protein C15orf40 in blood serum" @@ -40209,17 +40210,17 @@ "heat shock factor-binding protein 1" "C6 glioma cell" "renal overload-type gout"@en - "recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome" "acneiform dermatitis" + "recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome" "ulnar nerve lesion" "Aplasia/Hypoplasia of the corpus callosum" "obsolete_autosomal dominant hypocalcemia" - "OSU-2" + "Primary dystonia, DYT21 type" "nicotinate phosphoribosyltransferase" + "OSU-2" "U2OS" "breast carcinoma in situ" "level of kinesin light chain 1 in blood serum" - "Primary dystonia, DYT21 type" "hypochord" "sorting nexin-2" "obsolete_adult-onset citrullinemia type I" @@ -40245,8 +40246,8 @@ "biological role" "Leber hereditary optic neuropathy" "obsolete_glycogen storage disease" - "Trichomegaly - retina pigmentary degeneration - dwarfism" "uncharacterized protein C7orf50" + "Trichomegaly - retina pigmentary degeneration - dwarfism" "level of fibroblast growth factor-binding protein 3 in blood" "level of histamine N-methyltransferase in blood" "tyrosine-protein kinase receptor Tie-1, soluble measurement" @@ -40323,11 +40324,11 @@ "muscle cell" "neuromedin-S" "VC199" + "diabetic ketoacidosis" "craniofacial tissue" "urotensin-2" "Meloidogyne graminicola" "amyloid beta precursor like protein 1" - "diabetic ketoacidosis" "level of low-density lipoprotein receptor-related protein 2 in blood serum" "glutamate receptor ionotropic, kainate 2" "adult Fanconi syndrome" @@ -40408,16 +40409,16 @@ "CORL279" "CS57620" "Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature" - "SURF1-related Charcot-Marie-Tooth disease type 4" "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency" "Genetic congenital limb malformation" + "SURF1-related Charcot-Marie-Tooth disease type 4" "obsolete_primary pigmented nodular adrenocortical disease" "level of translin in blood serum" "tropomyosin beta chain measurement" "level of Ras-related protein Rab-2A in blood serum" - "Common Hematopoietic Neoplasm" "Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1" "retinal melanoma" + "Common Hematopoietic Neoplasm" "BCKN-1" "phosphatidylcholine diacyl C36:3 measurement" "hereditary epidermal appendage anomaly" @@ -40464,9 +40465,9 @@ "hematopoietic stem cell" "seminal root" "entopterygoid" + "obsolete_multiminicore myopathy" "phakomatosis pigmentokeratotica" "parapsoriasis" - "obsolete_multiminicore myopathy" "chondrodysplasia punctata, tibial-metacarpal type" "X-24418 measurement" "glutathione-specific gamma-glutamylcyclotransferase 1" @@ -40528,12 +40529,12 @@ "protein MTSS 2" "obsolete_dorsal fin musculature" "16-hydroxypalmitate measurement" - "Disturbed sensory perception" - "CD69-positive double-positive thymocyte" "FVB/N"@en "3-Indolepropionic acid to LysoPC 16:0 ratio" - "myotonic dystrophy type 2" + "Disturbed sensory perception" + "CD69-positive double-positive thymocyte" "limb-girdle muscular dystrophy due to POMK deficiency" + "myotonic dystrophy type 2" "level of UDP-glucuronosyltransferase 1-6 in blood serum" "3-Indolepropionic acid to D-2-Aminobutyric acid ratio" "protein-glutamine gamma-glutamyltransferase 4" @@ -40542,15 +40543,15 @@ "platelet glycoprotein V" "thiopurine" "bleomycin hydrolase" - "obsolete_intellectual disability-hyperkinetic movement-truncal ataxia syndrome" "obsolete_hypomandibular faciocranial dysostosis" "Cafe-au-lait spot" + "obsolete_intellectual disability-hyperkinetic movement-truncal ataxia syndrome" "obsolete syndromic nail anomaly" "level of late cornified envelope protein 3C in blood serum" - "level of mitotic spindle assembly checkpoint protein MAD1 in blood serum" "benign neoplasm of anus" "bladder benign neoplasm" "Anemia" + "level of mitotic spindle assembly checkpoint protein MAD1 in blood serum" "beta-1,4-galactosyltransferase 1" "level of 39S ribosomal protein L55, mitochondrial in blood serum" "gap junction alpha-8 protein measurement" @@ -40578,8 +40579,8 @@ "concentrated" "level of acyl-CoA-binding domain-containing protein 6 in blood serum" "NH4_C38:5 DAG_or_TAG_fragment measurement" - "mucocutaneous Leishmaniasis" "posterior meningocele" + "mucocutaneous Leishmaniasis" "systemic artery" "protein WWC1" "hereditary sclerosing poikiloderma, Weary type" @@ -40735,8 +40736,8 @@ "lysophosphatidylethanolamine 22:6 measurement"@en "obsolete AP4-related intellectual disability and spastic paraplegia" "ganglioside-induced differentiation-associated protein 1-like 1" - "diencephalic astrocytomas" "level of ubiquitin-like modifier-activating enzyme 1 in blood serum" + "diencephalic astrocytomas" "triacylglycerol 54:5" "obsolete_classic organic aciduria" "polydactyly of an index finger, unilateral" @@ -40758,8 +40759,8 @@ "serum dimethylarginine measurement" "progressive external ophthalmoplegia with mitochondrial DNA deletions" "MKKS-related ciliopathy" - "Epiretinal membrane" "Vaginal neoplasm" + "Epiretinal membrane" "intellectual disability-spasticity-ectrodactyly syndrome" "alopecia - contractures - dwarfism - intellectual disability syndrome" "kinesin-like protein KIF23 measurement" @@ -40780,10 +40781,10 @@ "encounter with health service for breast reconstruction following mastectomy" "hemojuvelin measurement" "lacrimal gland neoplasm" - "CD59 glycoprotein measurement" "quinolinate measurement" - "YTH domain-containing protein 1" + "CD59 glycoprotein measurement" "rapid kidney function decline" + "YTH domain-containing protein 1" "level of advanced glycosylation end product-specific receptor in blood" "intellectual disability, autosomal dominant 57" "level of superkiller complex protein 2 in blood" @@ -40889,8 +40890,8 @@ "autoinflammatory disease, multisystem, with immune dysregulation, X-linked" "porencephaly" "septooptic dysplasia" - "obsolete_9q21 microdeletion syndrome" "obsolete_osteonecrosis of genetic origin" + "obsolete_9q21 microdeletion syndrome" "sum of neutrophil and eosinophil counts" "level of LIM domain-binding protein 2 in blood serum" "obsolete_sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis" @@ -41010,15 +41011,15 @@ "microphthalmia, isolated, with coloboma 10" "level of calcyphosin in blood" "regulator of G-protein signaling 3 measurement" - "diacylglycerol 32.2 measurement" "level of keratin, type II cytoskeletal 1 in blood" "dermatofibrosarcoma protuberans" "obsolete_digestive system component" "obsolete_embryonic central brain surface glia" "osteonecrosis of genetic origin" "urotensin-2B" - "obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy" + "diacylglycerol 32.2 measurement" "Hypernasal speech" + "obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy" "obsolete_immunodeficiency with factor H anomaly" "acquired Fanconi syndrome" "intermediate trophoblast cell" @@ -41149,15 +41150,15 @@ "Brassica carinata" "level of transmembrane and immunoglobulin domain-containing protein 2 in blood serum" "tandem mass spectrometry" - "Autism spectrum disorder-epilepsy-arthrogryposis syndrome" "Illumina NovaSeq X Plus"@en "Pneumonia" "cathasterone" "obsolete_partial duplication of the short arm of chromosome 4" - "triacylglycerol 54:7 measurement"@en "osteoclast-associated immunoglobulin-like receptor" "Wistar" + "Autism spectrum disorder-epilepsy-arthrogryposis syndrome" "serum IgG measurement" + "triacylglycerol 54:7 measurement"@en "pharyngeal muscle cell" "level of interleukin-17 receptor B in blood serum" "plasma renin activity measurement" @@ -41181,8 +41182,8 @@ "pelvic lipomatosis" "Benign familial neonatal seizures" "DPM3-congenital disorder of glycosylation" - "Waardenburg syndrome type 1" "skull base neoplasm" + "Waardenburg syndrome type 1" "adult central nervous system teratoma" "GM06990" "ChIPmentation" @@ -41217,8 +41218,8 @@ "obsolete acquired paroxysmal nocturnal hemoglobinuria" "level of lipocalin-1 in blood serum" "level of carbonic anhydrase 5B, mitochondrial in blood serum" - "3-hydroxyhippurate measurement" "beta-1,4-galactosyltransferase 2" + "3-hydroxyhippurate measurement" "microtubule-associated proteins 1A/1B light chain 3 beta 2" "prostate and testis expressed protein 1 measurement" "filamin-A measurement" @@ -41267,8 +41268,8 @@ "Carpenter syndrome" "obsolete_sirenomelia" "E3 ubiquitin-protein ligase HECW2" - "CD9 molecule" "autosomal recessive humeroradial synostosis" + "CD9 molecule" "jejunal neoplasm" "RNA binding protein fox-1 homolog 3" "obsolete_Autosomal dominant neovascular inflammatory vitreoretinopathy" @@ -41302,8 +41303,8 @@ "nerve plexus disease" "trypsin-2 measurement" "level of ADP-ribosylation factor-like protein 1 in blood serum" - "Colorectal Serrated Adenocarcinoma" "mitral valve prolapse, myxomatous 2" + "Colorectal Serrated Adenocarcinoma" "proteasome activator complex subunit 3 measurement" "obsolete_open iniencephaly" "immunoglobulin J chain measurement" @@ -41400,9 +41401,9 @@ "obsolete colobomatous microphthalmia" "teratocarcinoma-derived growth factor 1 measurement" "OTU domain-containing protein 7B" + "3-hydroxyhexanoylcarnitine (2) measurement" "nexilin" "Flaviviridae infectious disease" - "3-hydroxyhexanoylcarnitine (2) measurement" "Hydrolethalus" "psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome" "level of dipeptidase 2 in blood serum" @@ -41433,8 +41434,8 @@ "homeobox protein MOX-2" "mitochondrial ubiquitin ligase activator of NFKB 1 measurement" "obsolete_Arbisopsis thaliana" - "response to Par-4 dependent chemotherapy"@en "splenocyte" + "response to Par-4 dependent chemotherapy"@en "brachydactyly type B" "liver" "digestive system surgery"@en @@ -41561,8 +41562,8 @@ "mesomelia-synostoses syndrome" "Lon protease, mitochondrial" "Blurred vision" - "phosphatidylcholine 32:0 measurement"@en "level of transaldolase in blood" + "phosphatidylcholine 32:0 measurement"@en "circadian sleep/wake cycle, non-REM sleep" "Weaver syndrome" "obsolete_distal portion of anterior interventricular branch of left coronary artery" @@ -41591,8 +41592,8 @@ "tall stature-scoliosis-macrodactyly of the great toes syndrome" "bone osteosarcoma" "neuroendocrine carcinoma" - "acrodermatitis" "5alpha-androstan-3beta,17beta-diol monosulfate (2) measurement" + "acrodermatitis" "Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome" "glutathione S-transferase kappa 1" "His-Leu" @@ -41664,10 +41665,10 @@ "HS-27A" "Dysmorphism - short stature - deafness - disorder of sex development" "distal monosomy 10p" - "5-sulfo-13-benzenedicarboxylic acid measurement" "atrial conduction disease" "GM17197" "neuritis" + "5-sulfo-13-benzenedicarboxylic acid measurement" "response to trauma exposure" "rhabdomyosarcoma" "mitochondrial complex 4 deficiency, nuclear type 19" @@ -41693,8 +41694,8 @@ "optic tract meningioma" "Leukocyte adhesion deficiency type III" "arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development" - "nidogen-2 measurement" "Lip pit" + "nidogen-2 measurement" "level of threonine--tRNA ligase 1, cytoplasmic in blood" "obsolete_fountain syndrome" "histone deacetylase 9" @@ -41740,8 +41741,8 @@ "T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency" "Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism" "separation anxiety disorder" - "level of magnesium transporter NIPA4 in blood serum" "age related macular degeneration, susceptibility to" + "level of magnesium transporter NIPA4 in blood serum" "immunoglobulin mu Fc receptor" "ribonucleoside triphosphate biosynthetic process" "Non-eruption of teeth - maxillary hypoplasia - genu valgum" @@ -41757,9 +41758,9 @@ "X-11315 measurement" "obsolete_autosomal recessive Robinow syndrome" "level of transformer-2 protein homolog beta in blood serum" + "Phocomelia - ectrodactyly - deafness - sinus arrhythmia" "N-acetyl-L-cysteine" "CS57883" - "Phocomelia - ectrodactyly - deafness - sinus arrhythmia" "Adenosine Diphosphate" "level of procollagen galactosyltransferase 2 in blood serum" "surfeit locus protein 1" @@ -41782,18 +41783,18 @@ "level of nuclear factor erythroid 2-related factor 2 in blood serum" "urachus" "mRNA-decapping enzyme 1A" - "disintegrin and metalloproteinase domain-containing protein 12 measurement" "protein NDRG2" "Japan"@en "Japan" + "disintegrin and metalloproteinase domain-containing protein 12 measurement" "obsolete_refractive error" "obsolete inherited prion disease" "coronary vessel" "obsolete_congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency" - "Colo-320" "Sneeze" "level of vasorin in blood serum" "multiple sclerosis" + "Colo-320" "CS57622" "Autosomal ichthyosis syndrome with prominent neurologics signs" "hydroxymethylglutaryl-CoA synthase, cytoplasmic measurement" @@ -41844,8 +41845,8 @@ "mesomelic dwarfism, Reinhardt-Pfeiffer type" "Chlorocebus sabaeus" "GM09607 cell" - "ceramide (d18:1/20:0, d16:1/22:0, d20:1/18:0) measurement" "articular system" + "ceramide (d18:1/20:0, d16:1/22:0, d20:1/18:0) measurement" "obsolete_7q31 microdeletion syndrome" "creatine biosynthetic process disease" "Ck-beta-8-1 measurement" @@ -41855,16 +41856,16 @@ "obsolete_myelocystocele" "ABetaL34V amyloidosis" "pemphigus" - "obsolete_X and Y chromosomal anomaly" "lead atom" "coloboma of choroid and retina" + "obsolete_X and Y chromosomal anomaly" "level of GMP reductase 2 in blood serum" "diencephalic cancer" + "diacylglycerol 33:1 measurement" "embryonic central nervous system" "carotid plaque build" "eukaryotic tRNA pseudouridine synthase A" "GM12878" - "diacylglycerol 33:1 measurement" "ChIRP" "1,2-dilinoleoyl-GPC (18:2/18:2) measurement" "bronchiole" @@ -41887,8 +41888,8 @@ "level of interleukin-17 receptor D in blood serum" "level of S-arrestin in blood serum" "obsolete_hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome" - "transcription factor SOX-6" "Autosomal recessive spastic paraplegia type 11" + "transcription factor SOX-6" "hip osteoarthritis symptom severity measurement" "ILSXISS#/Tej" "level of Rab-like protein 6 in blood serum" @@ -42027,8 +42028,8 @@ "HSC-3" "GM15227" "level of beta-defensin 1 in blood serum" - "tarsal-carpal coalition syndrome" "chitosan" + "tarsal-carpal coalition syndrome" "Human immunodeficiency virus" "Pierson syndrome" "level of protein argonaute-1 in blood serum" @@ -42075,8 +42076,8 @@ "X-21364 measurement" "Fryns syndrome" "prostate leiomyosarcoma" - "NCI-H720" "UCH-1" + "NCI-H720" "motor neuron" "protein notum" "AsPC1" @@ -42091,8 +42092,8 @@ "uterine ligament serous adenocarcinoma" "Coregonus clupeaformis" "ventriculomegaly and arthrogryposis" - "DIP-seq" "level of microtubule-associated proteins 1A/1B light chain 3A in blood" + "DIP-seq" "thioredoxin domain-containing protein 12 measurement" "obsolete_disorder of lipid absorption and transport" "focal epithelial hyperplasia" @@ -42147,16 +42148,16 @@ "chymotrypsin-like elastase family member 3B measurement" "obsolete nitrogen compound metabolic process" "arthus reaction" - "X-24806 measurement" "disks large homolog 3" + "X-24806 measurement" "level of acetylcholinesterase in blood serum" "L-lactate dehydrogenase B chain measurement" "Anosmia" "intellectual disability, autosomal recessive 64" "lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome" "vulvar keratinizing squamous cell carcinoma" - "level of interleukin-33 in blood plasma" "17p13.3 microduplication syndrome" + "level of interleukin-33 in blood plasma" "level of coiled-coil domain-containing protein 28A in blood" "isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial" "Neu-Laxova syndrome 1" @@ -42193,11 +42194,11 @@ "Abnormal sperm morphology" "autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain" "hyperlipidemia" - "response to nivolumab"@en - "phenol sulfate measurement" "Abnormal toenail morphology" - "Spinocerebellar ataxia type 42" "obsolete_Caucasian" + "response to nivolumab"@en + "Spinocerebellar ataxia type 42" + "phenol sulfate measurement" "hyperargininemia" "HC toxin" "Thromboembolism" @@ -42278,11 +42279,11 @@ "large ribosomal subunit protein mL38" "obsolete_neurogenic palpebral tumor" "persistent Staphylococcus aureus carrier status" - "Gingival fibromatosis - progressive deafness" "level of insulin-like growth factor-binding protein 3 in blood serum" + "Gingival fibromatosis - progressive deafness" + "obsolete_Huntington disease-like syndrome due to C9ORF72 expansions" "jejunal neuroendocrine tumor, well differentiated, low or intermediate grade" "coatomer subunit epsilon" - "obsolete_Huntington disease-like syndrome due to C9ORF72 expansions" "obsolete_autosomal recessive Emery-Dreifuss muscular dystrophy" "cytochrome p450 3a4 measurement" "obsolete_polydactyly of a triphalangeal thumb, bilateral" @@ -42351,8 +42352,8 @@ "pelargonate 9:0 measurement" "telangiectatic osteogenic sarcoma" "partial deletion of chromosome 6" - "fibroblast growth factor receptor 3 measurement" "epiblast cell" + "fibroblast growth factor receptor 3 measurement" "increased heart weight" "Char syndrome" "anaplastic ependymoma" @@ -42364,10 +42365,10 @@ "orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 measurement" "placenta praevia" "level of ATP-dependent RNA helicase DHX58 in blood serum" - "obsolete_Parkes Weber syndrome" "renal osteodystrophy" "level of gastrotropin in blood serum" "Limb joint contracture" + "obsolete_Parkes Weber syndrome" "COVID-19 symptoms measurement" "response to transplant" "MCF-7aro" @@ -42439,11 +42440,11 @@ "level of nuclear factor 1 A-type in blood serum" "dilated cardiomyopathy 2B" "count unit" + "obsolete_dominant beta-thalassemia" "age at death" "SF-188" "paroxetine maleate" "spinocerebellar ataxia type 11" - "obsolete_dominant beta-thalassemia" "specifically androgen-regulated gene protein" "level of fragile X messenger ribonucleoprotein 1 in blood" "tricarboxylic acid cycle" @@ -42481,8 +42482,8 @@ "acquired peripheral neuropathy" "level of vasodilator-stimulated phosphoprotein in blood serum" "Paroxysmal ventricular tachycardia" - "PC-3" "ventral nerve cord primordium" + "PC-3" "capitellum" "sulfur amino acid metabolic process" "hydroxymethylglutaryl-CoA synthase, mitochondrial measurement" @@ -42503,9 +42504,9 @@ "tenascin-X measurement" "5C" "1-methylhistamine measurement" - "mammographic density percentage" "Charcot-Marie-Tooth disease, axonal, Type 2HH" "UDP-glucuronic acid decarboxylase 1" + "mammographic density percentage" "age of onset of colorectal cancer" "level of equatorin in blood serum" "breast adenosis" @@ -42546,10 +42547,10 @@ "Hyperleucinemia" "level of guanine nucleotide-binding protein G(i) subunit alpha-1 in blood serum" "clcn4-related disorder" - "1-stearoyl-2-oleoyl-GPC (18:0/18:1) measurement" - "embryonic corpus allatum" "obsolete osteochondrosis of genetic origin" + "embryonic corpus allatum" "GM12891" + "1-stearoyl-2-oleoyl-GPC (18:0/18:1) measurement" "CIP-TAP" "level of voltage-gated potassium channel KCNF1 in blood serum" "leiomyoma" @@ -42597,8 +42598,8 @@ "46,XX disorder of sex development - anorectal anomalies" "myoclonic epilepsy, juvenile, susceptibility to, 1" "non-lobar intracerebral hemorrhage"@en - "obsolete_hypokalemic periodic paralysis" "salmonella seropositivity" + "obsolete_hypokalemic periodic paralysis" "angiokeratoma of Fordyce" "Jaberi-Elahi syndrome" "KH domain-containing protein 3-like" @@ -42666,8 +42667,8 @@ "phenol" "Dyspnea" "striatonigral degeneration, childhood-onset" - "C34:2 phosphatidylethanolamine measurement" "Angiokeratoma corporis diffusum" + "C34:2 phosphatidylethanolamine measurement" "meningoencephalocele" "NEDD4-like E3 ubiquitin-protein ligase WWP2" "autosomal dominant medullary cystic kidney disease with or without hyperuricemia" @@ -42734,8 +42735,8 @@ "HBL100" "level of beta-defensin 103 in blood serum" "obsolete_tooth ankylosis" - "obsolete_ring chromosome 3" "protein NOV" + "obsolete_ring chromosome 3" "GM10847" "BDCM" "hormone role" @@ -42785,8 +42786,8 @@ "psoriasis 2" "obsolete non-syndromic respiratory or mediastinal malformation" "trochlear nerve" - "Spinocerebellar ataxia type 41" "3-Indolepropionic acid to Pipecolinic acid ratio" + "Spinocerebellar ataxia type 41" "xanthurenate measurement"@en "obsolete non-syndromic terminal limb defects" "Stimmler syndrome" @@ -42801,12 +42802,12 @@ "level of calcium-binding protein 39 in blood serum" "Carney complex, type 1" "familial long QT syndrome" - "ocular albinism with late-onset sensorineural deafness" "eye swelling" + "ocular albinism with late-onset sensorineural deafness" "streptococcal pneumonia" "response to beta blocker" - "myristoleate 14:1n5 measurement" "rheumatic pulmonary valve disease" + "myristoleate 14:1n5 measurement" "DLAF" "IgG-negative double negative memory B cell" "COP9 signalosome complex subunit 7b" @@ -42896,8 +42897,8 @@ "BMP-binding endothelial regulator protein measurement" "Childhood onset" "obsolete autosomal recessive lymphoproliferative disease" - "epidermolysis bullosa simplex" "nicotinamide measurement" + "epidermolysis bullosa simplex" "EC 3.1.1.8 (cholinesterase) inhibitor" "immune system" "N-acylethanolamine measurement" @@ -42993,8 +42994,8 @@ "level of dixin in blood serum" "mediator of RNA polymerase II transcription subunit 21" "Rare genetic headache" - "cholesteryl icosatrienoate" "obsolete_Proteus syndrome" + "cholesteryl icosatrienoate" "obsolete_clinical history age" "arsenite methyltransferase" "RARseq" @@ -43014,8 +43015,8 @@ "antiemetic" "vascular endothelial function measurement"@en "obsolete_juvenile hyaline fibromatosis" - "obsolete_Charcot-Marie-Tooth disease type 2B1" "Alopecia-contractures-dwarfism-intellectual disability syndrome" + "obsolete_Charcot-Marie-Tooth disease type 2B1" "matrix metalloproteinase-20" "Sensorineural deafness with dilated cardiomyopathy" "pipecolate" @@ -43040,9 +43041,9 @@ "Postpericardiotomy Syndrome" "level of Ras-related protein Rab-43 in blood serum" "undecanoate 11:0 measurement" - "N-acetylglutamine measurement" "Abnormal nasopharyngeal adenoid morphology" "fibroblast growth factor receptor 4 measurement" + "N-acetylglutamine measurement" "AG14446" "other organism part" "Ewing sarcoma/peripheral primitive neuroectodermal tumor" @@ -43161,12 +43162,12 @@ "X-11327 measurement" "obsolete_coxopodopatellar syndrome" "contactin-associated protein 1 measurement" - "obsolete_X-linked non progressive cerebellar ataxia" "peroxisome proliferator-activated receptor alpha" + "obsolete_X-linked non progressive cerebellar ataxia" "vital capacity" "pineal parenchymal cell neoplasm" - "eating behaviour" "RILP-like protein 1" + "eating behaviour" "Ran-binding protein 3" "bacterial vaginosis" "developing neuroepithelium" @@ -43226,8 +43227,8 @@ "phenyl hydrogen sulfate" "testosterone" "congenital pulmonary lymphangiectasia" - "Dental malocclusion" "papillary cystadenoma" + "Dental malocclusion" "single Ig IL-1-related receptor" "non-renal secondary hyperparathyroidism" "(1->3)-beta-D-glucan" @@ -43268,8 +43269,8 @@ "phosphatidylcholine acyl-alkyl C32:2 measurement" "allergen exposure measurement" "insulin-like growth factor-binding protein 4 measurement" - "obsolete_cephalic musculature" "integrin beta-1" + "obsolete_cephalic musculature" "coronary artery disease, severe, susceptibility to" "urethral villous adenoma" "CHP212" @@ -43310,14 +43311,14 @@ "Phenylpyruvic acid measurement" "specific phobia" "cataract-hypertrichosis-intellectual disability syndrome" - "bacterial meningitis" "obsolete_hyperkalemic periodic paralysis" + "bacterial meningitis" "Leber hereditary optic neuropathy, autosomal recessive" "obsolete developmental delay, intellectual disability, obesity, and dysmorphic features" "species design" "2,3-dihydroxyisovalerate measurement" - "torticollis-keloids-cryptorchidism-renal dysplasia syndrome" "four-jointed box protein 1 measurement" + "torticollis-keloids-cryptorchidism-renal dysplasia syndrome" "Danio rerio larval stage" "D-2-hydroxyglutaric aciduria" "CS57886" @@ -43336,11 +43337,11 @@ "M059J" "obsolete_familial cutaneous collagenoma" "level of urotensin-2 receptor in blood serum" - "juvenile nephropathic cystinosis" "Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation" + "juvenile nephropathic cystinosis" "desmocollin-2 measurement" - "triacylglycerol 58:9" "gonococcal urethritis" + "triacylglycerol 58:9" "obsolete_mitochondrial neurogastrointestinal encephalomyopathy" "Thickened skin" "level of synaptic vesicle membrane protein VAT-1 in blood serum" @@ -43362,8 +43363,8 @@ "J.CaM2.5"@en "tensin-2 measurement" "bone quantitative ultrasound measurement" - "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome" "GM17258" + "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome" "Philippines"@en "Philippines" "level of coiled-coil and C2 domain-containing protein 1A in blood" @@ -43379,8 +43380,8 @@ "1-stearoyl-2-oleoyl-GPS (18:0/18:1) measurement" "C34:2 phosphatidylethanolamine plasmalogen measurement" "5-dodecenoylcarnitine (C12:1) measurement" - "Wistar-Kyoto" "triacylglycerol 56:10 measurement"@en + "Wistar-Kyoto" "serum non-albumin protein measurement" "autosomal dominant nonsyndromic hearing loss 17" "cerebellin-1" @@ -43397,14 +43398,14 @@ "obsolete_hereditary sensory and autonomic neuropathy with deafness and global delay" "ABeta amyloidosis, Italian type" "forkhead box protein P4" - "protein FAM118B" "coloboma of iris" + "protein FAM118B" "obsolete paroxysmal nonkinesigenic dyskinesia 1" "PS(O-20:0/22:6(4Z,7Z,10Z,13Z,16Z,19Z))" "level of orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 in blood serum" "array data file" - "adult central nervous system immature teratoma" "regulator of G-protein signaling 19 measurement" + "adult central nervous system immature teratoma" "GM12892" "mesophyll cell" "Circle-Seq" @@ -43491,13 +43492,13 @@ "obsolete adactyly of hand" "acrofacial dysostosis, Kennedy-Teebi type" "obsolete_cylindrical spirals myopathy" + "Microcephalic primordial dwarfism, Dauber type" "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency" "intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism" "obsolete_SKNAS" "level of protein S100-A16 in blood" "hemolytic anemia" "dorsal root ganglia homeobox protein measurement" - "Microcephalic primordial dwarfism, Dauber type" "Singleton-Merten syndrome 1" "Bilateral conductive hearing impairment" "hereditary dementia" @@ -43580,19 +43581,19 @@ "intestinal motility disease" "Breech presentation" "level of neural proliferation differentiation and control protein 1 in blood serum" - "internet addiction disorder"@en "obsolete_Eastern Indian" + "internet addiction disorder"@en "myopathy caused by variation in CRPPA" "chronic tic disorder" "obsolete_B lymphocyte" "MAGUK p55 subfamily member 7" "transmembrane protein 132D measurement" "obsolete idiopathic and/or familial pulmonary arterial hypertension" + "15q11.2 microdeletion syndrome" "level of tryptophan--tRNA ligase, mitochondrial in blood serum" "carotid artery occlusion" - "15q11.2 microdeletion syndrome" - "U3118MG" "tooth disease" + "U3118MG" "obsolete rare female infertility due to adrenal disorder of genetic origin" "Blau syndrome" "Fanconi anemia complementation group I" @@ -43661,8 +43662,8 @@ "sphingomyeline C26:0 measurement" "ring chromosome 1" "Genetic renal tumor" - "BNP measurement" "Cleidocranial dysplasia and isolated cranial ossification defect" + "BNP measurement" "eugenol" "X-linked intellectual disability, Schimke type" "BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3" @@ -43837,8 +43838,8 @@ "abnormal mineralization disorder" "obsolete_McLeod neuroacanthocytosis syndrome" "positive regulation of heart contraction" - "calcipressin-3" "protein phosphatase 1 regulatory subunit 42" + "calcipressin-3" "Larsen syndrome" "Montastraea faveolata" "level of U1 small nuclear ribonucleoprotein A in blood serum" @@ -43881,8 +43882,8 @@ "tyrosine measurement" "level of immunoglobulin heavy constant alpha 1 in blood serum" "diverticular disease" - "random exon sequencing" "distal myopathy, Welander type" + "random exon sequencing" "serine--tRNA ligase, cytoplasmic" "age related macular degeneration 4" "level of putative protein-lysine deacylase ABHD14B in blood" @@ -44066,8 +44067,8 @@ "level of synaptic vesicle membrane protein VAT-1-like in blood serum" "neuregulin-1 measurement" "ubiquitin carboxyl-terminal hydrolase isozyme L5" - "protein TMEPAI" "level of phosphatidylcholine in blood serum" + "protein TMEPAI" "developmental and epileptic encephalopathy" "alveolar capillary dysplasia with misalignment of pulmonary veins" "obsolete_Atrioventricular defect - blepharophimosis -radial defects" @@ -44118,11 +44119,11 @@ "agoraphobia symptom measurement" "level of beta-defensin 106 in blood serum" "Kleefstra syndrome due to a point mutation" - "obsolete_trisomy 5p" "blood 2,3-dihydroxypyridine measurement" - "childhood central nervous system immature teratoma" "level of serine/threonine-protein kinase LATS1 in blood" + "childhood central nervous system immature teratoma" "endothelin-converting enzyme-like 1" + "obsolete_trisomy 5p" "montelukast" "Ear pain" "inborn disorder of pyridoxine metabolism" @@ -44143,8 +44144,8 @@ "Toriello-Lacassie-Droste syndrome" "VIP36-like protein" "occupational disorder" - "level of cornulin in blood" "2-aminooctanoate" + "level of cornulin in blood" "cholesteryl ester 18:2 measurement"@en "target of Myb1 membrane trafficking protein" "Increased circulating ACTH level" @@ -44204,9 +44205,9 @@ "obsolete_microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome" "inorganic pyrophosphatase 2, mitochondrial" "obsolete_SKNDZ" + "transcriptional enhancer factor TEF-5 measurement" "double-stranded RNA-binding protein Staufen homolog 1 measurement" "GM08930" - "transcriptional enhancer factor TEF-5 measurement" "obsolete_Alagille syndrome due to 20p12 microdeletion" "enoyl-CoA hydratase domain-containing protein 3, mitochondrial" "lymphatic malformation 8" @@ -44247,8 +44248,8 @@ "East Texas bleeding disorder" "type 2 diabetes mellitus" "obsolete_vitamin B12- and folate-independent constitutional megaloblastic anemia" - "checkup" "obsolete_partial deletion of chromosome 2" + "checkup" "Livedo reticularis" "obsolete hypertelorism, Teebi type" "obsolete infantile neuroaxonal dystrophy" @@ -44256,13 +44257,13 @@ "blood circulation" "mediastinal extraskeletal osteosarcoma" "level of cytosolic Fe-S cluster assembly factor NUBP2 in blood serum" - "obsolete_Premature aging" "U3082MG" "obsolete female infertility due to an anomaly of ovarian function of genetic origin" + "obsolete_Premature aging" "1-(1-enyl-palmitoyl)-2-arachidonoyl-GPE (P-16:0/20:4) measurement" + "obsolete_MDAMB-157" "GDNF family receptor alpha-like" "Fanconi anemia complementation group J" - "obsolete_MDAMB-157" "protein phosphatase 1 regulatory subunit 12A" "cytokinin" "polydactyly-macrocephaly syndrome" @@ -44278,8 +44279,8 @@ "level of epididymal secretory glutathione peroxidase in blood serum" "level of protein phosphatase 1A in blood serum" "dual specificity protein phosphatase 10" - "obsolete_primary syringomyelia" "C36:3 phosphatidylethanolamine plasmalogen measurement" + "obsolete_primary syringomyelia" "Rare lacrimal system disease" "SPARC measurement" "obsolete_NPHP3-related Meckel-like syndrome" @@ -44311,8 +44312,8 @@ "parasitic endophthalmitis" "cardiac granular cell neoplasm" "Beta blocking agent use measurement" - "level of ornithine transcarbamylase, mitochondrial in blood serum" "autosomal recessive distal spinal muscular atrophy 1" + "level of ornithine transcarbamylase, mitochondrial in blood serum" "sodium- and chloride-dependent neutral and basic amino acid transporter B(0+)" "level of MHC class II histocompatibility antigen alpha chain DRA in blood" "uterine leiomyosarcoma" @@ -44368,8 +44369,8 @@ "10x sequencing protocol" "atmosphere unit" "Syndromic diarrhea" - "asymptomatic myeloma" "obsolete_Fraser syndrome" + "asymptomatic myeloma" "N6-Acetyl-L-lysine measurement" "rib" "Acromelic frontonasal dysplasia" @@ -44435,13 +44436,13 @@ "polyp of rectum" "obsolete_phosphoenolpyruvate carboxykinase deficiency" "small intestine diverticulitis" - "vulvar eccrine adenocarcinoma" "DnaJ homolog subfamily C member 18 measurement" + "vulvar eccrine adenocarcinoma" "bone morphogenetic protein 10 measurement" + "protein binding measurement"@en "Oxyhemoglobin to Total Hemoglobin Ratio Measurement" "level of interleukin-28 receptor alpha chain in blood serum" "obsolete_avelline corneal dystrophy" - "protein binding measurement"@en "junctional epidermolysis bullosa" "skin meningioma" "Long Evans"@en @@ -44492,10 +44493,10 @@ "ADP-ribose glycohydrolase MACROD2" "pulmonary fibrosis" "Illumina NextSeq 2000" - "obsolete_Non hereditary congenital primary lymphedema" "tubulin--tyrosine ligase-like protein 12" - "cardiac embolism" + "obsolete_Non hereditary congenital primary lymphedema" "obsolete_liver (Rattus rattus)" + "cardiac embolism" "pulmonary alveolitis" "lower urinary tract calculus" "level of alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase A in blood serum" @@ -44554,8 +44555,8 @@ "interleukin-23 receptor" "age of onset of disease" "ZR751" - "level of ankyrin repeat domain-containing protein 1 in blood serum" "Soft Tissue Chondroma" + "level of ankyrin repeat domain-containing protein 1 in blood serum" "Ehlers-Danlos syndrome, vascular-like type" "clinical treatment protocol" "peroxisome proliferator-activated receptor gamma" @@ -44611,8 +44612,8 @@ "1-oleoylglycerol 1-monoolein measurement" "family history of prostate cancer" "focal adhesion kinase 1 measurement" - "level of RNA-binding protein 41 in blood serum" "phosphatidylcholine 18:1 measurement" + "level of RNA-binding protein 41 in blood serum" "abnormal lipolysis" "DF5018" "cAMP-dependent protein kinase catalytic subunit alpha measurement" @@ -44664,8 +44665,8 @@ "cathelicidin antimicrobial peptide" "Genetic respiratory malformation" "Retinal degeneration - nanophthalmos - glaucoma" - "sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase measurement" "obsolete_X-linked intellectual disability, Porteous type" + "sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase measurement" "sample dissociation" "obsolete_heart tube" "bacterial myocarditis" @@ -44719,13 +44720,13 @@ "level of acrosin-binding protein in blood" "obsolete_congenital pseudoarthrosis of the fibula" "Riboflavin measurement" - "obsolete_childhood-onset autosomal recessive myopathy with external ophthalmoplegia" "neuron associated cell (sensu Vertebrata)" "dermatitis, atopic, susceptibility to" "purine ribonucleoside triphosphate metabolic process" "magnetic resonance imaging of the heart"@en "negative regulation of circadian sleep/wake cycle, REM sleep" "level of casein kinase II subunit beta in blood serum" + "obsolete_childhood-onset autosomal recessive myopathy with external ophthalmoplegia" "balanitis" "obsolete_paramyotonia congenita of Von Eulenburg" "adult pineoblastoma" @@ -44768,10 +44769,10 @@ "obsolete_inherited arrhythmia" "obsolete_glycogen storage disease due to acid maltase deficiency, infantile onset" "obsolete_bilateral multicystic dysplastic kidney" + "Thrombocytopenia - Robin sequence" "bone fracture related measurement" "congenital bile acid synthesis defect 5" "GM17256" - "Thrombocytopenia - Robin sequence" "testican-3 measurement" "primary optic atrophy" "proenkephalin-B" @@ -44876,8 +44877,8 @@ "Breast aplasia" "mucopolysaccharidosis type 3A" "X-17361 measurement" - "interleukin-21 measurement" "lower lobe of left lung" + "interleukin-21 measurement" "Hippoglossus hippoglossus" "obsolete disease with diffuse palmoplantar keratoderma as a major feature" "cellular modification" @@ -44903,14 +44904,14 @@ "obsolete_autism spectrum disorder due to AUTS2 deficiency" "level of calcium-binding protein 2 in blood serum" "cotinine N-oxide measurement" - "fructose-2,6-bisphosphatase TIGAR measurement" "replicate" + "fructose-2,6-bisphosphatase TIGAR measurement" "level of TBC1 domain family member 23 in blood" "clostridium difficile infection" "testis-specific basic protein Y 1 measurement" "IgD-negative CD38-positive IgG memory B cell" - "Yellow fever virus" "obsolete_neutrophil immunodeficiency syndrome" + "Yellow fever virus" "zinc finger protein 843 measurement" "malignant teratoma of testis" "Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy" @@ -44948,8 +44949,8 @@ "short fifth metacarpals-insulin resistance syndrome" "cranial neuralgia" "Myofibroma" - "single cell immune repertoire sequencing" "testis-specific Y-encoded-like protein 1" + "single cell immune repertoire sequencing" "Smart-seq2 protocol" "Acromelia" "neoplasm of major salivary gland" @@ -44987,10 +44988,10 @@ "CDK5 regulatory subunit-associated protein 3" "Pseudomonas syringae pv. tomato" "level of cartilage acidic protein 1 in blood" - "obsolete_secretory apparatus of the lacrimal system anomaly" "C36:3 phosphatidylserine plasmalogen measurement" "visual impairment and progressive phthisis bulbi" "oocyte maturation defect 11" + "obsolete_secretory apparatus of the lacrimal system anomaly" "spectrin alpha chain, non-erythrocytic 1 measurement" "serine/threonine-protein kinase DCLK3 measurement" "level of pulmonary surfactant-associated protein A2 in blood" @@ -45019,8 +45020,8 @@ "osteoporosis-pseudoglioma syndrome" "level of CYFIP-related Rac1 interactor B in blood serum" "obsolete_disorder of zinc metabolism" - "X-21442 measurement" "choroidal dystrophy, central areolar, 1" + "X-21442 measurement" "immunodeficiency 74, COVID-19-related, X-linked" "autoimmune urticaria" "immature NK T cell stage IV" @@ -45034,8 +45035,8 @@ "thoracic-to-hip circumference ratio measurement" "level of band 3 anion transport protein in blood" "level of CD99 molecule-like protein 2 in blood serum" - "level of methionine--tRNA ligase, cytoplasmic in blood" "leucine-rich repeat and fibronectin type-III domain-containing protein 5" + "level of methionine--tRNA ligase, cytoplasmic in blood" "DNA primase small subunit" "benign insulitis" "Legg-Calve-Perthes disease" @@ -45060,9 +45061,9 @@ "polyethylene oxidized measurement" "obsolete_periaqueductal gray" "microfibril-associated glycoprotein 4 measurement" - "prolactin measurement" "SNU-620" "CAMA1" + "prolactin measurement" "protein LRATD2" "level of diacylglycerol kinase zeta in blood" "nucleotide biosynthetic process" @@ -45153,17 +45154,17 @@ "Populus balsamifera" "level of ceramide-1-phosphate transfer protein in blood" "ventral hyoid arch skeleton" - "DnaJ homolog subfamily C member 27 measurement" "isocitric acid" "spinocerebellar ataxia type 12" "vacuolar protein sorting-associated protein 4A" "level of interleukin-31 receptor A in blood serum" "level of methylated-DNA--protein-cysteine methyltransferase in blood serum" "atypical hypotonia-cystinuria syndrome" + "DnaJ homolog subfamily C member 27 measurement" "gap junction alpha-1 protein" "intellectual disability-hypotonia-skin hyperpigmentation syndrome" - "Bacteroides" "vulvar leiomyosarcoma" + "Bacteroides" "carbonic anhydrase-related protein" "level of DNA-binding protein SATB1 in blood serum" "Photophobia" @@ -45225,18 +45226,18 @@ "interferon-related developmental regulator 1" "obsolete_rhizomelic syndrome, Urbach type" "central corneal thickness" - "obsolete_severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" "tumor necrosis factor receptor superfamily member 21 measurement" "voltage-gated potassium channel subfamily G member 4" "diaphragmatic defect-limb deficiency-skull defect syndrome" + "obsolete_severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome" "thyrocyte" "array platform variation design" "ACTL6A-related BAFopathy" "pancreatic agenesis 2" "4-methylcatechol sulfate measurement" + "procollagen C-endopeptidase enhancer 1 measurement" "COLO357" "level of epsin-1 in blood" - "procollagen C-endopeptidase enhancer 1 measurement" "selenoprotein M" "Zellweger syndrome" "malignant epithelioid mesothelioma" @@ -45290,9 +45291,9 @@ "PROM1-related retinopathy" "obsolete_presumptive diencephalon" "paraphimosis" - "allergic urticaria" "Iridocyclitis" "female accessory gland" + "allergic urticaria" "autosomal recessive osteopetrosis" "Periostitis" "gliadin seropositivity" @@ -45385,16 +45386,16 @@ "microgametophyte vegetative cell" "hereditary nephritis" "X-linked intellectual disability - hypogammaglobulinemia - progressive neurological deterioration" + "NCI-H1568" "trichodermodysplasia-dental alterations syndrome" "level of N(1),N(12)-diacetylspermine in blood" - "NCI-H1568" "regulator of chromosome condensation" "Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome" "microphthalmia, isolated, with cataract" "level of matrix metalloproteinase-20 in blood serum" - "obsolete_autosomal dominant keratitis" "breast milk measurement" "familial polycythemia" + "obsolete_autosomal dominant keratitis" "obsolete_X-linked myopathy with excessive autophagy" "COLO320DM" "BMI-adjusted hip circumference" @@ -45411,8 +45412,8 @@ "drinking behavior" "primary peritoneal carcinoma" "obsolete_Weissenbacher- Zweymuller syndrome" - "scChIP-seq" "Increased erythrocyte protoporphyrin concentration" + "scChIP-seq" "level of chondromodulin-1 in blood serum" "glossitis" "3-methylbenzyl alcohol" @@ -45455,8 +45456,8 @@ "Rare female infertility due to an anomaly of ovarian function of genetic origin" "Nascent-Seq" "GBA carrier status" - "axial hypoblast" "level of EF-hand calcium-binding domain-containing protein 4B in blood serum" + "axial hypoblast" "developmental and epileptic encephalopathy, 42" "carcinoembryonic antigen-related cell adhesion molecule 7" "microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome" @@ -45470,11 +45471,11 @@ "mental health" "normal mucosa of esophagus-specific gene 1 protein" "Coloboma of macula - brachydactyly type B" + "X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism" "level of RNA binding protein fox-1 homolog 2 in blood serum" "acrocapitofemoral dysplasia" "Colon Neuroendocrine Tumor G1" "decreased bone mass" - "X-linked intellectual disability - epilepsy - progressive joint contractures - dysmorphism" "congenital disorder of deglycosylation" "A549" "progesterone-induced-blocking factor 1 (human)" @@ -45521,15 +45522,15 @@ "intermediate density lipoprotein change measurement" "synaptotagmin-17" "alpha-galactosidase A" - "level of C-type lectin domain family 4 member G in blood" "obsolete_autosomal recessive Kenny-Caffey syndrome" + "level of C-type lectin domain family 4 member G in blood" "hereditary optic atrophy" "immature platelet fraction" "spermatogenic failure 74" "cardiac amyloidosis" "Ludwig's angina" - "Okamoto-Aoki" "obsolete_multiple mitochondrial DNA deletion syndrome" + "Okamoto-Aoki" "trait in response to carbamazepine" "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia" "level of interleukin-1 receptor accessory protein in blood serum" @@ -45588,9 +45589,9 @@ "necrosis of pituitary" "complicated appendicitis"@en "WD repeat-containing protein 18" + "obsolete_hereditary spastic paraplegia" "exome sequencing" "oculoauricular syndrome" - "obsolete_hereditary spastic paraplegia" "level of N-lysine methyltransferase SMYD2 in blood serum" "1-(1-enyl-palmitoyl)-GPC (P-16:0) measurement" "disease state design" @@ -45671,10 +45672,10 @@ "moderate multiminicore disease with hand involvement" "hexokinase-1 measurement" "nucleotide sequence size"@en + "gamma-glutamylmethionine measurement" "mitochondrial complex 2 deficiency, nuclear type 4" "hexaploid" "level of ceramide-1-phosphate transfer protein in blood serum" - "gamma-glutamylmethionine measurement" "laterality measurement" "uterine fibroid" "hypertrophic cardiomyopathy 12" @@ -45692,10 +45693,10 @@ "liver CD103-negative dendritic cell" "relaxation of vascular associated smooth muscle" "radiation unit" - "obsolete_Blount disease" "obsolete_partial duplication of the long arm of chromosome 6" "ubiquitin-conjugating enzyme E2 Q1" "level of slit homolog 1 protein in blood serum" + "obsolete_Blount disease" "transient neonatal diabetes mellitus" "obsolete_multiple endocrine neoplasia type 1" "obsolete_combined pancreatic lipase-colipase deficiency" @@ -45800,8 +45801,8 @@ "obsolete_Amelogenesis imperfecta - nephrocalcinosis" "tooth hard tissue disease" "obsolete_Oculofaciocardiodental syndrome" - "SNU-638" "microfibrillar-associated protein 1 measurement" + "SNU-638" "SQ-5" "Johanson-Blizzard syndrome" "malignant carotid body paraganglioma" @@ -45853,8 +45854,8 @@ "functioning gonadotropic adenoma" "Crohn's colitis" "Autosomal dominant methemoglobinemia" - "beta-defensin 135" "obsolete_progressive pseudorheumatoid arthropathy of childhood" + "beta-defensin 135" "level of inhibin alpha chain in blood serum" "level of huntingtin-interacting protein 1-related protein in blood serum" "Abnormality of the outer ear" @@ -45914,8 +45915,8 @@ "obsolete_congenital elbow dislocation" "cardiac germ cell tumor" "nitrogen atom" - "Microtia - eye coloboma - imperforation of the nasolacrimal duct" "cataracts, hearing impairment, nephrotic syndrome, and enterocolitis" + "Microtia - eye coloboma - imperforation of the nasolacrimal duct" "C-C motif chemokine 21 measurement" "trabecular meshwork" "level of thrombospondin type-1 domain-containing protein 1 in blood serum" @@ -45964,9 +45965,9 @@ "Mendelian susceptibility to mycobacterial diseases" "obsolete_cochlea structure" "inflammatory bowel disease 25" - "obsolete_congenital vitreoretinal dysplasia" "scrotum basal cell carcinoma" "level of centriole and centriolar satellite protein OFD1 in blood" + "obsolete_congenital vitreoretinal dysplasia" "guanine nucleotide-binding protein G(k) subunit alpha measurement" "Be2 cell" "BEST1-related recessive retinopathy" @@ -45974,15 +45975,15 @@ "tumor necrosis factor receptor superfamily member 25 measurement" "cleft lip/palate-intestinal malrotation-cardiopathy syndrome" "salt treatment" + "R-6-hydroxywarfarin measurement" "hereditary intrinsic factor deficiency" "X inactivation, familial skewed" - "R-6-hydroxywarfarin measurement" "Salmonella enterica subsp. enterica serovar Typhi" "PBRM1-related BAFopathy" "phosphatidylcholine O-38:0" "level of PAX-interacting protein 1 in blood serum" - "thyroglobulin measurement" "level of epidermal growth factor receptor kinase substrate 8-like protein 2 in blood" + "thyroglobulin measurement" "chromosome 16p12.2-p11.2 deletion syndrome" "mucosa of oral region" "MCAS" @@ -46065,11 +46066,11 @@ "partial deletion of chromosome 11" "Cold-induced sweating syndrome-hyperthermia spectrum" "Coarse hair" + "Appendix Villous Adenoma" "oligohydramnios" "uterine cancer" "FRAS1-related extracellular matrix protein 2" "beta-defensin 127" - "Appendix Villous Adenoma" "microgram per milliliter" "neuropathy with hearing impairment" "level of ADAMTS-like protein 5 in blood" @@ -46395,9 +46396,9 @@ "Numb-like protein" "integrin alpha-M" "prenatal-onset spinal muscular atrophy with congenital bone fractures" - "ankle injury" "obsolete_RCH-ACV" "level of bifunctional arginine demethylase and lysyl-hydroxylase JMJD6 in blood serum" + "ankle injury" "Ocular Sebaceous Carcinoma" "galactonate measurement" "eukaryotic-type small ribosomal subunit protein uS7" @@ -46447,8 +46448,8 @@ "ADP-ribose pyrophosphatase, mitochondrial" "obsolete_primary hyperoxaluria type 3" "Disorder of amino acid and other organic acid metabolism" - "age at voice drop" "level of aldehyde dehydrogenase, dimeric NADP-preferring in blood serum" + "age at voice drop" "dental pulp disease" "hypogonadotropic hypogonadism" "ovarian melanoma" @@ -46488,16 +46489,16 @@ "succinate dehydrogenase assembly factor 4, mitochondrial" "Cerebellar hypoplasia" "Abnormal thorax morphology" - "adrenal cortex carcinoma" "molybdopterin synthase catalytic subunit" "level of tectonic-2 in blood serum" "Populus tremula" + "adrenal cortex carcinoma" "Accessory ectopic thyroid tissue" "spinal meningioma" "obsolete_cerebellum" "urethral urothelial papilloma" - "obsolete_Coppock-like cataract" "blastula 128-cell" + "obsolete_Coppock-like cataract" "quinidine barbiturate measurement" "SNU-668" "CFT-2" @@ -46534,12 +46535,12 @@ "Candidiasis, Invasive" "level of glycoprotein endo-alpha-1,2-mannosidase in blood serum" "mitochondrial DNA depletion syndrome" - "obsolete_congenital absence of thigh and lower leg with foot present, unilateral" + "MO3.13" "STA-ET-1" "smallpox" - "MO3.13" "level of fibulin-5 in blood serum" "COPII-coated ER to Golgi transport vesicle" + "obsolete_congenital absence of thigh and lower leg with foot present, unilateral" "estradiol 17-beta-dehydrogenase 1 measurement" "dentin dysplasia type I" "malacoplakia" @@ -46554,8 +46555,8 @@ "obsolete_acrofacial dysostosis, Kennedy-Teebi type" "array control genomic DNA" "anthrax toxin receptor 1" - "maxillary sinusitis" "Atypical Lobular Breast Hyperplasia" + "maxillary sinusitis" "centrosomal protein of 112 kDa" "urothelium" "obsolete_External ear" @@ -46601,11 +46602,11 @@ "BRISC complex subunit Abro1 measurement" "3-hydroxyhexanoate" "obsolete_caudal vein plexus" + "tyramine O-sulfate measurement" "C-C motif chemokine 23 measurement" "Ewing sarcoma/peripheral primitive neuroectodermal tumor of bone" "Buschke Lowenstein tumor" "glycosylphosphatidylinositol biosynthesis defect 18" - "tyramine O-sulfate measurement" "level of poly(U)-binding-splicing factor PUF60 in blood serum" "adhesion G protein-coupled receptor B2" "Monosomy 22q13" @@ -46665,16 +46666,16 @@ "Hyaluronidase deficiency" "ovarian follicle stage I" "obsolete_alpha-mannosidosis, infantile form" - "X-11445--5-alpha-pregnan-3beta,20alpha-disulfate measurement" "fallopian tube cystadenofibroma" "KIF5" + "X-11445--5-alpha-pregnan-3beta,20alpha-disulfate measurement" "response to immunosuppressant" "selenoprotein S" "32D" - "short ulna-dysmorphism-hypotonia-intellectual disability syndrome" "MDA-MB-330" - "mitochondrial complex 4 deficiency, nuclear type 14" + "short ulna-dysmorphism-hypotonia-intellectual disability syndrome" "level of Phosphatidylinositol (18:1_18:2) in blood serum" + "mitochondrial complex 4 deficiency, nuclear type 14" "level of UPF0696 protein C11orf68 in blood serum" "Eyebrow/eyelashes structural anomaly" "obsolete_X-linked cleft palate and ankyloglossia" @@ -46751,8 +46752,8 @@ "Limited shoulder movement" "Accommodative esotropia" "timepoint" - "obsolete_multiple congenital anomalies/dysmorphic syndrome-intellectual disability" "Postnatal growth retardation" + "obsolete_multiple congenital anomalies/dysmorphic syndrome-intellectual disability" "intellectual developmental disorder, autosomal dominant 70" "inositol-tetrakisphosphate 1-kinase" "indole-3-butyric acid" @@ -46898,8 +46899,8 @@ "HL-1" "encephalitis, acute, infection (viral)-induced, susceptibility to, 11" "level of dual specificity tyrosine-phosphorylation-regulated kinase 1A in blood serum" - "matrix metalloproteinase-9 measurement" "sphingosine" + "matrix metalloproteinase-9 measurement" "obsolete_mild hemophilia A" "Greater Middle Eastern (Middle Eastern or North African or Persian)"@en "mitochondrial myopathy with diabetes" @@ -46964,14 +46965,14 @@ "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" "thyroid hormone receptor-associated protein 3" "complement component C6 measurement" - "Pierre Robin syndrome associated with collagen disease" - "60S ribosomal protein L30 measurement" "X-14189--leucylalanine measurement" "14-3-3 protein sigma measurement" "age-related hearing impairment" - "TNF receptor-associated factor 3" + "Pierre Robin syndrome associated with collagen disease" + "60S ribosomal protein L30 measurement" "cleft lip/palate-ectodermal dysplasia syndrome" "chronic renal failure syndrome" + "TNF receptor-associated factor 3" "total lipids in medium HDL measurement " "a disintegrin and metalloproteinase with thrombospondin motifs 16" "ciliary body" @@ -46991,18 +46992,18 @@ "Sarcosine measurement" "congenital enterovirus infection" "methemoglobinemia" + "obsolete_citrullinemia type I" "HCASMC-hTERT"@en "COLO668" "atypical juvenile parkinsonism" + "1-(1-enyl-stearoyl)-GPC (P-18:0) measurement" "luminal B breast carcinoma" - "obsolete_citrullinemia type I" "high content analysis of cells by molecular content" "vestibulocochlear ganglion" - "1-(1-enyl-stearoyl)-GPC (P-18:0) measurement" "2-Hydroxyisocaproic acid measurement" "PA-TU-8902" - "acrorenal syndrome" "ovarian Wilms tumor" + "acrorenal syndrome" "Iran" "chromosome Xq28 duplication syndrome" "dyslexia-associated protein KIAA0319-like protein" @@ -47013,8 +47014,8 @@ "beta-defensin 107" "Rare hyperthyroidism" "ecto-ADP-ribosyltransferase 3 measurement" - "myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2" "rhizome" + "myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2" "trypanosomiasis" "ethanolamine kinase 1 measurement" "Hydrocephaly - tall stature - joint laxity" @@ -47053,8 +47054,8 @@ "obsolete_microcephalic osteodysplastic dysplasia, Saul-Wilson type" "obsolete_Phosphoenolpyruvate carboxykinase 1 deficiency" "level of YTH domain-containing family protein 3 in blood" - "glutamate pyruvate transaminase 2 deficiency" "soluble P-selectin measurement" + "glutamate pyruvate transaminase 2 deficiency" "level of tyrosine-protein kinase receptor UFO in blood" "WB-F344" "iCLIP" @@ -47064,8 +47065,8 @@ "familial hypocalciuric hypercalcemia 2" "breasts and/or nipples, aplasia or hypoplasia of, 2" "atypical kinase COQ8B, mitochondrial" - "CS57583" "level of histone deacetylase 6 in blood serum" + "CS57583" "level of josephin-1 in blood serum" "protein FAM177A1 measurement" "alpha-beta T cell" @@ -47312,11 +47313,11 @@ "neurogenic locus notch homolog protein 3 measurement" "familial dysfibrinogenemia" "1-palmitoleoyl-2-linoleoyl-sn-glycero-3-phosphocholine" - "fourth ventricle volume measurement"@en "level of signal transducer and activator of transcription 2 in blood" "material supplier" "Trichophyton soudanense" "defensin alpha 5 (human)" + "fourth ventricle volume measurement"@en "perivascular space" "brain" "Capz-interacting protein" @@ -47432,8 +47433,8 @@ "epibranchial placode" "solitary fibrous tumor" "Oncorhynchus nerka" - "trans fatty acid measurement" "OPA1-related optic atrophy with or without extraocular features" + "trans fatty acid measurement" "obsolete_palmoplantar keratoderma, Nagashima type" "obsolete_silver-Russell syndrome due to 7p11.2p13 microduplication" "obsolete_mild hyperphenylalaninemia" @@ -47460,8 +47461,8 @@ "ECV304 cell" "early-onset cerebellar ataxia with retained tendon reflexes" "obsolete_mosaic trisomy 3" - "acute inflammatory response" "level of pro-neuregulin-1, membrane-bound isoform in blood serum" + "acute inflammatory response" "bromodomain testis-specific protein measurement" "X-linked acrogigantism due to Xq26 microduplication" "Anemia, congenital dyserythropoietic, type IIIb, autosomal recessive" @@ -47638,8 +47639,8 @@ "MX-1" "tafenoquine" "BLESS" - "ophthalmic herpes zoster" "NUT midline carcinoma" + "ophthalmic herpes zoster" "t-tau measurement" "neuronal calcium sensor 1" "beta-defensin 129" @@ -47661,8 +47662,8 @@ "level of large ribosomal subunit protein mL46 in blood" "signaling lymphocytic activation molecule measurement" "obsolete aleukemic mast cell leukemia" - "transcription elongation factor A protein 2" "Cyclamen persicum" + "transcription elongation factor A protein 2" "COLO704" "acesulfame" "glucuronide of piperine metabolite C17H21NO3 (4) measurement" @@ -47701,10 +47702,10 @@ "label" "required for drug-induced death protein 1" "Li-Campeau syndrome" + "ML-1 cell" "congenital stationary night blindness" "Abnormality of the diaphragm" "Arenaviridae infectious disease" - "ML-1 cell" "Succinic acid measurement" "environmental tobacco smoke exposure measurement" "immunodeficiency 49" @@ -47805,10 +47806,10 @@ "Anti-measles virus IgG measurement" "Spindle Cell Melanoma" "intestinal neoplasm" - "obsolete_mosaic trisomy 7" "Uveitis" - "b melanoma antigen 3 measurement" + "obsolete_mosaic trisomy 7" "level of E3 ubiquitin-protein ligase RNF31 in blood" + "b melanoma antigen 3 measurement" "gp41 C34 peptide, HIV measurement" "level of uncharacterized protein C9orf40 in blood" "ubiquitin thioesterase OTU1" @@ -47870,8 +47871,8 @@ "retinal capillary malformation" "sphingosine kinase 2 measurement" "Cenani-Lenz syndrome" - "POEMS syndrome" "carcinoembryonic antigen-related cell adhesion molecule 3" + "POEMS syndrome" "level of 39S ribosomal protein L33, mitochondrial in blood serum" "autosomal dominant sideroblastic anemia" "alanine--tRNA ligase, cytoplasmic" @@ -48079,8 +48080,8 @@ "obsolete_Pfeiffer-Palm-Teller syndrome" "mesoblastic nephroma" "chromosome 17P13.3, telomeric, duplication syndrome" - "level of alpha-1-acid glycoprotein 1 in blood" "Hemoglobin E to Total Hemoglobin Ratio Measurement" + "level of alpha-1-acid glycoprotein 1 in blood" "Mytilus californianus" "Abnormality of the abdominal wall" "obsolete_C3 glomerulonephritis" @@ -48092,8 +48093,8 @@ "chorea" "desmoglein-1 measurement" "obsolete_free sialic acid storage disease, infantile form" - "undifferentiated carcinoma of esophagus" "Cardiac Tamponade" + "undifferentiated carcinoma of esophagus" "cystinosis" "1-linoleoyl-2-linolenoyl-GPC (18:2/18:3) measurement" "mating type h plus" @@ -48173,10 +48174,10 @@ "Ngari virus" "Dwarfism - intellectual disability - eye abnormality" "WD repeat-containing protein 1 measurement" - "obsolete_brachydactyly type C" "combined immunodeficiency due to STK4 deficiency" "level of transcriptional activator protein Pur-beta in blood serum" "Atrophy" + "obsolete_brachydactyly type C" "central nervous system disease" "palladin" "level of charged multivesicular body protein 1a in blood serum" @@ -48204,9 +48205,9 @@ "syntaxin-6" "obsolete_non-syndromic limb reduction defect" "composite lymphoma" + "acquired aplastic anemia" "Nephropathy" "level of endogenous retrovirus group V member 1 Env polyprotein in blood serum" - "acquired aplastic anemia" "procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 measurement" "probable RNA-binding protein 19" "obsolete_pelvic girdle" @@ -48249,8 +48250,8 @@ "quinoline" "obsolete_neonatal inflammatory skin and bowel disease" "glucose metabolic process" - "protein transport" "Senecio chrysanthemifolius" + "protein transport" "Campylobacter jejuni subsp. jejuni 81-176" "autosomal recessive limb-girdle muscular dystrophy type 2P" "progressive myoclonic epilepsy type 6" @@ -48282,8 +48283,8 @@ "age related macular degeneration 11" "transketolase deficiency" "5alpha-androstan-3alpha,17beta-diol monosulfate (1) measurement" - "intellectual developmental disorder, autosomal dominant 72" "triacylglycerol 58:9 measurement"@en + "intellectual developmental disorder, autosomal dominant 72" "dengue virus, susceptibility to" "thoracolumbosacral spina bifida cystica" "vanillate" @@ -48319,10 +48320,10 @@ "mosaic trisomy 21" "juvenile idiopathic scoliosis" "integral membrane protein 2A" + "lipoid nephrosis" "parathyroid hormone" "zinc finger CCHC domain-containing protein 17" "Pt45P1" - "lipoid nephrosis" "OV56" "Uk-3" "Dickkopf-related protein 4 measurement" @@ -48370,7 +48371,6 @@ "embryonal neoplasm" "level of tetratricopeptide repeat protein 9B in blood serum" "uric acid measurement" - "potassium chromate measurement"@en "meningeal sarcoma" "major vestibular gland" "combined oxidative phosphorylation deficiency 46" @@ -48378,6 +48378,7 @@ "substantia propria of cornea" "level of fatty acid-binding protein, intestinal in blood" "radiologic finding" + "potassium chromate measurement"@en "pigment epithelium-derived factor measurement" "limbic lobe volume measurement"@en "radio-ulnar synostosis, unilateral" @@ -48394,8 +48395,8 @@ "level of membrane primary amine oxidase in blood serum" "Ralstonia eutropha H16" "Abnormal lung morphology" - "spongiotic dermatitis" "obsolete_qualitative or quantitative defects of beta-myosin heavy chain (MYH7)" + "spongiotic dermatitis" "Striae distensae" "indole-3-acetic acid" "Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes" @@ -48466,10 +48467,10 @@ "protein kinase c gamma type measurement" "level of N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase D in blood serum" "exudative vitreoretinopathy 2, X-linked" - "oral submucous fibrosis" "obsolete_lathosterolosis" - "Holzgreve-Wagner-Rehder syndrome" + "oral submucous fibrosis" "obsolete_SHORT syndrome" + "Holzgreve-Wagner-Rehder syndrome" "Charcot-Marie-Tooth disease type 4G" "vaginal adenocarcinoma" "level of adenosylhomocysteinase in blood" @@ -48567,8 +48568,8 @@ "bacterial gastritis" "complement factor D measurement" "macrovascular complications of diabetes"@en - "asparagine measurement" "urogenital neoplasm" + "asparagine measurement" "response to isoquinoline alkaloid" "X-14208--phenylalanylserine measurement" "level of DnaJ homolog subfamily C member 5B in blood serum" @@ -48649,12 +48650,12 @@ "Anti-hepatitis B virus surface antigen IgG measurement" "EnIGMA" "HG03175" - "obsolete_PMM2-CDG" "High pulse pressure" "revision of total hip arthroplasty"@en "immune organ" "inflammatory disease, non-human animal" "UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 measurement" + "obsolete_PMM2-CDG" "adenosine diphosphate measurement"@en "ring stage trophozoite" "neprilysin" @@ -48777,9 +48778,9 @@ "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form" "osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome" "obsolete_oculocutaneous albinism type 1" + "Partial trisomy of the short arm of chromosome 9" "Combined T and B cell immunodeficiency" "small intestine cancer" - "Partial trisomy of the short arm of chromosome 9" "inherited deficiency anemia" "LP.17 seventeen leaves visible stage" "Ileal Neuroendocrine Tumor G1" @@ -48932,11 +48933,11 @@ "obsolete_Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis" "nephron" "agenesis of corpus callosum, cardiac, ocular, and genital syndrome" - "pituitary apoplexy" "retinal ischemia" "periostin measurement" - "proline measurement" + "pituitary apoplexy" "trophoblast" + "proline measurement" "level of cadherin-related family member 2 in blood" "spinal muscular atrophy, type 1" "chordin-like protein 2 measurement" @@ -48949,6 +48950,7 @@ "lactobacillus phage virus seropositivity" "hindlimb bone" "syntaxin-7" + "profilin-2 measurement" "SH3 domain-binding protein 1" "congenital diaphragmatic hernia" "severe aplastic anemia" @@ -48956,7 +48958,6 @@ "Polycystic kidney dysplasia" "level of WW domain binding protein 1-like in blood serum" "nasal vein" - "profilin-2 measurement" "susceptibility to mononucleosis measurement" "MTLn3" "level of serine/threonine-protein phosphatase PP1-gamma catalytic subunit in blood serum" @@ -48971,17 +48972,17 @@ "level of pyridoxal phosphate homeostasis protein PLPBP in blood" "tumor necrosis factor receptor superfamily member 6B measurement" "Fusarium subglutinans" - "60S ribosome subunit biogenesis protein NIP7" "10-nonadecenoate" + "60S ribosome subunit biogenesis protein NIP7" "combined oxidative phosphorylation deficiency 36" "DNase Hi-C" "brain stem astrocytic neoplasm" "hypomyelinating leukodystrophy 2" - "pentachlorophenol measurement"@en "level of coagulation factor VII in blood" - "whole body water mass" + "pentachlorophenol measurement"@en "level of brain protein 44-like protein in blood serum" "spinal fracture" + "whole body water mass" "hereditary spastic paraplegia 77" "triacylglycerol 60:12 measurement"@en "urogenital tuberculosis" @@ -49014,9 +49015,9 @@ "lissencephaly 4" "erlin-1 measurement" "LN-18" - "COMM domain-containing protein 10" "level of UDP-N-acetylhexosamine pyrophosphorylase in blood serum" "soleus muscle" + "COMM domain-containing protein 10" "alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase C" "LIM domain-containing protein 2" "level of dickkopf-related protein 1 in blood" @@ -49090,13 +49091,13 @@ "phenylalanine" "radio-ulnar synostosis, bilateral" "congenitally corrected transposition of the great arteries" + "obsolete_Eiken syndrome" "familial thrombocytosis" "paralemmin" "gram" "level of charged multivesicular body protein 1b in blood serum" "level of T-cell surface glycoprotein CD8 beta chain in blood serum" "level of transcription factor AP-2-alpha in blood" - "obsolete_Eiken syndrome" "N-stearoylsphingosine-1-phosphocholine" "E3 ubiquitin-protein ligase HECTD3" "level of prohibitin-2 in blood serum" @@ -49107,8 +49108,8 @@ "obsolete_familial vesicoureteral reflux" "malignant T cell-amplified sequence 1" "janus kinase and microtubule-interacting protein 3 measurement" - "histiocytic medullary reticulosis" "mucopolysaccharide metabolic process" + "histiocytic medullary reticulosis" "X-linked Charcot-Marie-Tooth disease" "Basaloid Carcinoma" "PARE-Seq" @@ -49135,10 +49136,10 @@ "level of lysine-specific histone demethylase 1A in blood serum" "matrix metalloproteinase-19" "Pulmonary hypoplasia" + "Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation" "tick paralysis" "Abnormal thymus morphology" "lipopolysaccharide" - "Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation" "monocarboxylate transporter 4" "left inferior lateral ventricle volume measurement" "freshwater sediment metagenome" @@ -49150,9 +49151,9 @@ "versican core protein" "obsolete_Buschke-Ollendorff syndrome" "level of protein ripply1 in blood serum" - "10-nonadecenoate 19:1n9 measurement" "Kit-positive, CD34-positive common myeloid progenitor" "level of ZW10 interactor in blood serum" + "10-nonadecenoate 19:1n9 measurement" "mating type" "benign neoplasm of cerebellum" "arachidonoylcholine measurement" @@ -49196,12 +49197,12 @@ "Solanum chacoense" "negative regulation of platelet aggregation" "small cell osteogenic sarcoma" - "malabsorption syndrome" "iPS-11c" + "malabsorption syndrome" "pharyngeal arch" "radial hemimelia" - "nipple" "obsolete_multicentric osteolysis-nodulosis-arthropathy spectrum" + "nipple" "spinal stenosis" "level of nuclear receptor subfamily 1 group D member 2 in blood serum" "Hurler syndrome" @@ -49225,8 +49226,8 @@ "basal" "enzyme-free chemical dissociation" "GM17160" - "obsolete_distal portion of right coronary artery" "aggressive periodontitis" + "obsolete_distal portion of right coronary artery" "atrioventricular defect-blepharophimosis-radial and anal defect syndrome" "Sec1 family domain-containing protein 1" "level of DNA-directed RNA polymerase II subunit RPB1 in blood" @@ -49247,13 +49248,13 @@ "obsolete_46,XX disorder of sex development induced by fetoplacental androgens excess" "distal monosomy 7p" "level of uncharacterized protein C19orf18 (human) in blood serum" - "joint component" "Gallbladder Adenocarcinoma" + "joint component" "Trifolium repens" "scrotum" "bladder clear cell adenocarcinoma" - "autosomal dominant intermediate Charcot-Marie-Tooth disease type G" "inherited susceptibility to asthma" + "autosomal dominant intermediate Charcot-Marie-Tooth disease type G" "Splenic Hodgkin Lymphoma" "level of cadherin EGF LAG seven-pass G-type receptor 2 in blood" "level of replication protein A 32 kDa subunit in blood" @@ -49303,8 +49304,8 @@ "sulfate of piperine metabolite C16H19NO3 (2) measurement" "AP-1 complex subunit gamma-like 2" "ursocholate measurement" - "myopathy, tubular aggregate, 2" "arthritis" + "myopathy, tubular aggregate, 2" "obsolete_nuclear oculomotor paralysis" "obsolete_dentinogenesis imperfecta type 3" "mediator of RNA polymerase II transcription subunit 4 measurement" @@ -49389,9 +49390,9 @@ "level of DNA topoisomerase 2-beta in blood" "oculomotor nerve neoplasm" "GM17226" - "Anti-hepatitis B virus core antigen IgG measurement" - "obsolete_vagal placode 1" "ASAH1-related sphingolipidosis" + "obsolete_vagal placode 1" + "Anti-hepatitis B virus core antigen IgG measurement" "level of keratin, type II cytoskeletal 71 in blood serum" "HG03196" "obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis" @@ -49469,16 +49470,16 @@ "level of centrosomal protein 20 in blood serum" "Rhodospirillum rubrum" "Middle East respiratory syndrome" + "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" + "obsolete_benign partial epilepsy with secondarily generalized seizures in infancy" "GRAM domain-containing protein 1C measurement" "X-24431 measurement" "omega-3 polyunsaturated fatty acid measurement" "ILSXISS107/TejJ" - "obsolete_benign partial epilepsy with secondarily generalized seizures in infancy" - "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" "tyrosine-protein kinase FRK measurement" + "obsolete_response to dabigatran etexilate" "protocadherin gamma-C3" "aniridia - intellectual disability syndrome" - "obsolete_response to dabigatran etexilate" "obsolete_zebra body myopathy" "regulator of G-protein signaling 8" "Genetic immune deficiency with skin involvement" @@ -49504,10 +49505,10 @@ "Inclusion Body Fibromatosis" "ichthyosis, annular epidermolytic 1" "rigid spine muscular dystrophy 1" + "serine protease inhibitor Kazal-type 2 measurement" "Grey matter density measurement"@en "biological macromolecule" "congenital vertical talus, bilateral" - "serine protease inhibitor Kazal-type 2 measurement" "conversion protocol" "verrucous hemangioma" "negative elongation factor E" @@ -49523,8 +49524,8 @@ "neurodegeneration, childhood-onset, with progressive microcephaly" "obsolete_coloboma of iris" "transcription elongation factor A protein-like 8" - "obsolete_familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation" "Abnormality of the breast" + "obsolete_familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation" "amyloidoma" "MICOS complex subunit MIC10" "Motor tics" @@ -49647,9 +49648,9 @@ "neurological pain disorder" "level of adenosine kinase in blood serum" "C1q-related factor" + "obsolete_autosomal recessive bestrophinopathy" "4-hydroxybenzyl isothiocyanate 4-acetylrhamnoside measurement" "nasal cavity olfactory neuroblastoma" - "obsolete_autosomal recessive bestrophinopathy" "Leymus cinereus" "level of Fos-related antigen 2 in blood serum" "elongin-B" @@ -49729,9 +49730,9 @@ "GM17104" "level of protocadherin-7 in blood" "level of CCN family member 4 in blood" - "obsolete_lipoic acid synthetase deficiency" "ramus auricularis of the vagus nerve" "intellectual disability, autosomal dominant 20" + "obsolete_lipoic acid synthetase deficiency" "ribosome-binding protein 1 measurement" "cardiomyopathy, familial restrictive, 3" "IQ domain-containing protein F3" @@ -49768,8 +49769,8 @@ "bifid uvula" "chromogranin-A measurement" "X-linked intellectual disability with hypopituitarism" - "C-type lectin domain family 5 member A" "malignant hypertensive renal disease" + "C-type lectin domain family 5 member A" "3-(imidazol-5-yl)lactic acid" "obsolete complex chromosomal rearrangement" "Arthrogryposis - hyperkeratosis, lethal form" @@ -49840,9 +49841,9 @@ "Rare genetic vascular disease" "level of protein FAM9B in blood serum" "Atypical Endometrial Hyperplasia" + "obsolete_neuroectodermal melanolysosomal disease" "sebaceous gland neoplasm" "transferrin measurement" - "obsolete_neuroectodermal melanolysosomal disease" "hereditary neoplastic syndrome" "ATP-binding cassette sub-family C member 6" "response to opioid" @@ -49997,8 +49998,8 @@ "plasmalemma vesicle-associated protein" "level of cell cycle exit and neuronal differentiation protein 1 in blood" "level of calcium-binding protein 8 in blood serum" - "level of Ras-related protein R-Ras in blood" "1-tetradecanoyl-2-[(9Z,12Z)-octadecadienoyl]-sn-glycero-3-phosphocholine" + "level of Ras-related protein R-Ras in blood" "level of protein PAXX in blood" "obsolete_10x 5' v3" "mouse embryo stage" @@ -50058,8 +50059,8 @@ "HUES9" "bed nucleus of stria terminalis" "ceramide-1-phosphate transfer protein" - "femoral cancer" "Reduced number of intrahepatic bile ducts" + "femoral cancer" "movement disorder" "amiloride-sensitive amine oxidase [copper-containing]" "obsolete_congenital hydrocephalus" @@ -50081,13 +50082,13 @@ "level of mediator of RNA polymerase II transcription subunit 10 in blood serum" "severe combined immunodeficiency due to IKK2 deficiency" "obsolete_immunoglobulin-mediated membranoproliferative glomerulonephritis" - "Mononegavirales infectious disease" "peroxisome biogenesis disorder due to PEX13 defect" + "Mononegavirales infectious disease" "membrane cofactor protein" "level of serpin H1 in blood serum" + "medium-chain specific acyl-CoA dehydrogenase, mitochondrial" "5-fluorouracil" "trait in response to antirheumatic drug" - "medium-chain specific acyl-CoA dehydrogenase, mitochondrial" "Phanerochaete chrysosporium" "sphingomyelin measurement" "holoprosencephaly" @@ -50161,19 +50162,19 @@ "obsolete_cotyledon" "Pelvic girdle muscle weakness" "camptodactyly-tall stature-scoliosis-hearing loss syndrome" - "microphthalmia-associated transcription factor" "bronchial brush biopsy" + "microphthalmia-associated transcription factor" "Leptosphaerulina chartarum" "intellectual disability, autosomal dominant 45" "obsolete_multiple epiphyseal dysplasia and pseudoachondroplasia" "coronary aneurysm" "host extracellular space" - "obsolete_bile acid CoA ligase deficiency and defective amidation" "obsolete_congenital muscular dystrophy with hyperlaxity" + "obsolete_bile acid CoA ligase deficiency and defective amidation" "epibranchial 5" "DNA repair protein XRCC1 measurement" - "subcutaneous adipose tissue" "level of EMI domain-containing protein 1 in blood serum" + "subcutaneous adipose tissue" "Tn5 B1-4" "obsolete_joint formation defects" "obsolete_pentasomy X" @@ -50181,8 +50182,8 @@ "obsolete_terminal nerve" "fibroma" "obsolete_congenital factor XII deficiency" - "obsolete_prostate specific antigen measurement" "stearoyl sphingomyelin (d18:1/18:0) measurement" + "obsolete_prostate specific antigen measurement" "2',3'-cyclic-nucleotide 3'-phosphodiesterase measurement" "IgG isotype profile measurement" "Penicillium viridicatum" @@ -50196,8 +50197,8 @@ "melanocyte protein PMEL measurement" "Euphoria" "candela" - "Congenital aphakia" "NF-kappa-B inhibitor delta" + "Congenital aphakia" "lysophosphatidylcholine 14:0" "omphalocele syndrome, Shprintzen-Goldberg type" "retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome" @@ -50235,14 +50236,14 @@ "obsolete_axilla" "level of Sphingomyelin (d32:1) in blood serum" "Infiltrating Bladder Lymphoepithelioma-Like Carcinoma" - "serine protease inhibitor Kazal-type 6 measurement" "obsolete_genetic central nervous system and retinal vascular disease" + "serine protease inhibitor Kazal-type 6 measurement" "receptor-type tyrosine-protein phosphatase S measurement" - "X-12410 measurement" "N-gondoylethanolamine" "5q35 microduplication syndrome" "glutathione S-transferase theta-1" "amino acid transporter heavy chain SLC3A1" + "X-12410 measurement" "neutrophil percentage of granulocytes" "Robinow syndrome" "posterior cerebral artery infarction" @@ -50375,10 +50376,10 @@ "Bockenheimer syndrome" "obsolete_primary renal tubular acidosis" "TELO2-related intellectual disability-neurodevelopmental disorder" - "peer review quality control role" "epilepsy, progressive myoclonic, 12" "level of thymosin beta-10 in blood" "level of calretinin in blood" + "peer review quality control role" "amnestic disorder" "inferior parietal cortex volume measurement"@en "technology type" @@ -50433,12 +50434,12 @@ "non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome" "CS57873" "level of IGF-like family receptor 1 in blood serum" - "obsolete_myoclonic epilepsy of infancy" "obsolete_phakomatosis pigmentokeratotica" "collectrin measurement" - "obsolete_mucopolysaccharidosis type 4" + "obsolete_myoclonic epilepsy of infancy" "obsolete_orofacial cleft" "Goodpasture syndrome" + "obsolete_mucopolysaccharidosis type 4" "3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form" "variegate porphyria, childhood-onset" "protein unc-79 homolog" @@ -50454,8 +50455,8 @@ "salivary gland adenoid cystic carcinoma" "Rare bone disease related to a common gene or pathway defect" "phosphatidylcholine (18:0/20:2, 20:0/18:2) measurement" - "dickkopf-like protein 1 measurement" "X-11315-to-pyroglutamine ratio" + "dickkopf-like protein 1 measurement" "cadaver dissection" "Thalassiosira pseudonana CCMP1335" "Respiratory failure requiring assisted ventilation" @@ -50531,8 +50532,8 @@ "dimethylarginine (SDMA + ADMA) measurement" "caspase-2 measurement" "glutaryl-CoA dehydrogenase deficiency" - "Large forehead" "nucleosome assembly protein 1-like 2 measurement" + "Large forehead" "diaminopimelate measurement" "obsolete_PYCR1-related de Barsy syndrome" "obsolete_mucopolysaccharidosis type 6, slowly progressing" @@ -50578,10 +50579,10 @@ "paxillin" "obsolete_achromatopsia" "Hyperlordosis" - "obsolete_partial deletion of the short arm of chromosome 7" "bone morphogenetic protein 2" "GM17174" "level of VPS10 domain-containing receptor SorCS1 in blood serum" + "obsolete_partial deletion of the short arm of chromosome 7" "obsolete_brachydactyly type E" "obsolete_van der Woude syndrome" "social behavior" @@ -50598,8 +50599,8 @@ "chloride intracellular channel protein 2" "obsolete_qualitative or quantitative defects of emerin" "ADP-ribosylation factor 6" - "obsolete_2q31.1 microduplication syndrome" "Non-syndromic pontocerebellar hypoplasia" + "obsolete_2q31.1 microduplication syndrome" "17q12 microdeletion syndrome" "GM12873" "distal 16p11.2 microdeletion syndrome" @@ -50608,8 +50609,8 @@ "phospholipids in large HDL measurement" "(S)-3-phenyllactate" "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy" - "obsolete_C syndrome" "transitional endoplasmic reticulum ATPase" + "obsolete_C syndrome" "Visual impairment" "protein unc-93 homolog B1" "arachidonate 20:4n6 measurement" @@ -50621,8 +50622,8 @@ "GM17841" "PacBio Sequel II system" "HG03469" - "ectonucleoside triphosphate diphosphohydrolase 5 measurement" "JM1" + "ectonucleoside triphosphate diphosphohydrolase 5 measurement" "diabetic retinopathy" "cell death regulator Aven" "CD34-positive, CD38-positive megakaryocyte erythroid progenitor cell" @@ -50635,8 +50636,8 @@ "Mitochondrial oxidative phosphorylation disorder with no known mechanism" "coiled-coil and C2 domain-containing protein 1A" "cervicothoracic spina bifida cystica" - "B-cell non-Hodgkins lymphoma" "pre-mRNA-splicing regulator WTAP" + "B-cell non-Hodgkins lymphoma" "Baraitser-Winter syndrome 1" "progressive familial intrahepatic cholestasis" "TPM2-related myopathy" @@ -50670,10 +50671,10 @@ "level of contactin-6 in blood serum" "tumor of parathyroid gland" "Disorder of pyrimidine metabolism" + "BRB-seq" "wild type genotype" "differentially expressed in FDCP 6" "dorsal" - "BRB-seq" "beta-defensin 128 measurement" "hereditary ataxia" "biliary tract cancer" @@ -50686,9 +50687,9 @@ "HAP1"@en "HAP-1" "medication adherence behavior" + "Cardiodysrhythmic potassium-sensitive periodic paralysis" "cytohesin-3" "analgesia requirement measurement" - "Cardiodysrhythmic potassium-sensitive periodic paralysis" "nephrogenic syndrome of inappropriate antidiuresis" "Hyporeflexia" "Neurogenic bladder" @@ -50710,8 +50711,8 @@ "alveolar rhabdomyosarcoma" "glutathione hydrolase 1 proenzyme" "dehydrogenase/reductase SDR family member 9" - "vesicle-associated membrane protein-associated protein B/C" "Episodic ataxia with slurred speech" + "vesicle-associated membrane protein-associated protein B/C" "response to dietary selenium supplementation" "obsolete_trisomy 12p" "Papillon-Lefèvre syndrome" @@ -50772,10 +50773,10 @@ "contactin-1 measurement" "obsolete_ductus deferens" "organ extraction" - "alcoholic pancreatitis" "obsolete_fat body primordium" "vitreoretinopathy with phalangeal epiphyseal dysplasia" "obsolete_vascular cord" + "alcoholic pancreatitis" "obsolete_gastroduodenal malformation" "gestational serum measurement" "ILSXISS80/TejJ" @@ -50856,9 +50857,9 @@ "level of transmembrane protease serine 5 in blood serum" "level of gamma-glutamyltranspeptidase 2 in blood serum" "obsolete_upper thoracic spina bifida cystica" - "obsolete_autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" "Malignant Pancreatic Neoplasm" "dorsal apodeme specific anlage" + "obsolete_autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" "zinc fingers and homeoboxes protein 1" "phosphatidylinositide phosphatase SAC2" "progenitor cell of endocrine pancreas" @@ -50892,8 +50893,8 @@ "nucleolysin TIAR" "germinomatous germ cell tumor" "Norrie disease" - "histidine measurement" "paranasal sinus neoplasm" + "histidine measurement" "Myc target protein 1" "X-14450--phenylalanylleucine measurement" "level of torsin-1A-interacting protein 2 in blood serum" @@ -50908,8 +50909,8 @@ "glottis squamous cell carcinoma" "bacteremia, susceptibility" "qualitative or quantitative defects of dystrophin" - "COS-7" "obsolete_Flynn-Aird syndrome" + "COS-7" "viral meningitis" "myopathy caused by variation in FKTN" "level of ELAV-like protein 1 in blood serum" @@ -51102,8 +51103,8 @@ "Rhodobacter sphaeroides 2.4.1" "obsolete_ArrayExpress experiment type" "chronic atrial and intestinal dysrhythmia" - "7-chlorokynurenic acid" "traditional Chinese medicine type" + "7-chlorokynurenic acid" "level of eukaryotic translation initiation factor 2 subunit 2 in blood" "level of SLIT-ROBO Rho GTPase-activating protein 2 in blood serum" "obsolete membrane part" @@ -51151,8 +51152,8 @@ "C->U-editing enzyme APOBEC-2" "prothrombin measurement" "microphthalmia, syndromic 2" - "obsolete_familial hypoaldosteronism" "obsolete_beta-thalassemia intermedia" + "obsolete_familial hypoaldosteronism" "assay by sequencer" "Lactuca sativa" "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2" @@ -51188,8 +51189,8 @@ "congenital sialidosis type 2" "obsolete_disorder of phenylalanine metabolism" "single cell Hi-C" - "obsolete_Charcot-Marie-Tooth disease type 4J" "dipeptidyl peptidase 1 measurement" + "obsolete_Charcot-Marie-Tooth disease type 4J" "femoral agenesis/hypoplasia" "soft tissue disease" "glycogen storage disease due to acid maltase deficiency, late-onset" @@ -51229,9 +51230,9 @@ "cathepsin E measurement" "spermatogenic failure 66" "obsolete_infantile epileptic-dyskinetic encephalopathy" + "reading and spelling ability" "multiple acyl-CoA dehydrogenase deficiency" "disorder of visual system" - "reading and spelling ability" "vaginal yolk sac tumor" "diffuse lipomatosis" "Shukla-Vernon syndrome" @@ -51274,11 +51275,11 @@ "jupiter microtubule associated homolog 1" "cerebellar degeneration" "bone morphogenetic protein 4" - "obsolete_brachydactyly type A1" - "secondary hypertrophic osteoarthropathy" "NudC domain-containing protein 2" "E3 ubiquitin-protein ligase RNF25" "Thin vermilion border" + "obsolete_brachydactyly type A1" + "secondary hypertrophic osteoarthropathy" "candidiasis, familial, 4" "late cornified envelope-like proline-rich protein 1" "level of anterior gradient protein 3 in blood" @@ -51305,8 +51306,8 @@ "Fc receptor-like protein 6 measurement" "izumo sperm-egg fusion protein 4" "obsolete_somite 13" - "Muscular hypertrophy - hepatomegaly - polyhydramnios" "CS57874" + "Muscular hypertrophy - hepatomegaly - polyhydramnios" "fucose mutarotase" "apelin" "ChEC-seq" @@ -51402,8 +51403,8 @@ "cataract 12 multiple types" "vancomycin" "Disorder of serine or glycine metabolism" - "beta-mannosidase measurement" "level of activating signal cointegrator 1 complex subunit 2 in blood serum" + "beta-mannosidase measurement" "inner ear disease" "benign muscle neoplasm" "phencyclidine" @@ -51503,8 +51504,8 @@ "interleukin-20 receptor subunit alpha measurement" "level of mediator of RNA polymerase II transcription subunit 20 in blood serum" "auriculocondylar syndrome" - "peroxisome biogenesis disorder due to PEX16 defect" "Barrett adenocarcinoma" + "peroxisome biogenesis disorder due to PEX16 defect" "SCLC-22H" "obsolete_isolated scaphocephaly" "DNA fragmentation factor subunit alpha" @@ -51527,19 +51528,19 @@ "obsolete adult hypophosphatasia" "level of arylamine N-acetyltransferase 1 in blood serum" "glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1" + "Disorder of the gamma-glutamyl cycle" "methylcobalamin deficiency type cblE" "UTMC-2"@en "Festuca rubra subsp. littoralis" - "Disorder of the gamma-glutamyl cycle" "obsolete_pyruvate carboxylase deficiency, infantile form" "level of transmembrane protease serine 6 in blood serum" "level of sodium/iodide cotransporter in blood serum" "lissencephaly due to TUBA1A mutation" - "level of transmembrane and coiled-coil domain-containing protein 5A in blood serum" "GM1 ganglioside measurement" + "level of transmembrane and coiled-coil domain-containing protein 5A in blood serum" + "tracheal brush" "Burren ecotype" "lateral" - "tracheal brush" "GM17168" "obsolete_proximal portion of right coronary artery" "cardiomyopathy-cataract-hip spine disease syndrome" @@ -51620,33 +51621,33 @@ "X-12717 measurement" "IMR-32" "millimeter" - "parafollicular cell" - "level of heparan sulfate glucosamine 3-O-sulfotransferase 5 in blood serum" "X-linked intellectual disability, Abidi type" "obsolete_mevalonate kinase deficiency" + "parafollicular cell" + "level of heparan sulfate glucosamine 3-O-sulfotransferase 5 in blood serum" "obsolete moderate COVID-19 infection" "obsolete chloroplast part" "obsolete_epididymus" "benign PEComa" "paraneoplastic renal syndrome" "single cell library construction" - "obsolete_palpebral piliary tumor" "CS57904" + "obsolete_palpebral piliary tumor" "trans-3-hydroxycotinine measurement"@en "age at onset" "benzylpenicillin" "T-helper 9 cell" "obsolete_congenital secondary polycythemia" - "level of derlin-1 in blood serum" "vitamin A deficiency" + "level of derlin-1 in blood serum" "Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome" "CAL51" "level of ELAV-like protein 2 in blood serum" "Cardiac Rhabdomyoma" "Charcot-Marie-Tooth disease dominant intermediate C" "obsolete_symptomatic form of Coffin-Lowry syndrome in female carriers" - "obsolete_Adult hypophosphatasia" "obsolete_glycogen storage disease due to liver phosphorylase kinase deficiency" + "obsolete_Adult hypophosphatasia" "age at last pregnancy measurement" "dynactin subunit 1" "5'-nucleotidase domain-containing protein 1" @@ -51667,8 +51668,8 @@ "Nematoda" "Leber congenital amaurosis 8" "respiratory system venous blood vessel" - "Rothmund-Thomson syndrome type 2" "3-Indolepropionic acid to LysoPC 20:1 ratio" + "Rothmund-Thomson syndrome type 2" "kallikrein-11 measurement"@en "congenital absence of both forearm and hand" "Chronic diarrhea with hereditary sensory and autonomic neuropathy" @@ -51679,9 +51680,9 @@ "level of uncharacterized protein C22orf15 (human) in blood serum" "mitogen-activated protein kinase kinase kinase kinase 3" "acquired generalized lipodystrophy" + "BMI-adjusted waist-hip ratio" "immunoglobulin superfamily member 3" "level of tRNA (cytosine-5-)-methyltransferase in blood" - "BMI-adjusted waist-hip ratio" "acquired polycythemia" "GM17228" "Midline defect of mandible" @@ -51743,8 +51744,8 @@ "central nervous system extraskeletal osteosarcoma" "skin appendage disorder" "Oscheius myriophila" - "obsolete_hereditary motor and sensory neuropathy, Okinawa type" "fatty acid-binding protein 5" + "obsolete_hereditary motor and sensory neuropathy, Okinawa type" "membrane-associated progesterone receptor component 2 measurement" "level of GTP-binding protein SAR1a in blood serum" "carbohydrate sulfotransferase 9 measurement" @@ -51781,9 +51782,9 @@ "familial congenital mirror movements" "fludrocortisone" "Leukocyte adhesion deficiency type I" + "proto-oncogene vav measurement" "laryngeal squamous cell carcinoma" "Li-Ghorbani-Weisz-Hubshman syndrome" - "proto-oncogene vav measurement" "Prostate Small Cell Carcinoma" "level of probable N-acetyltransferase 14 in blood serum" "Deafness - small bowel diverticulosis - neuropathy" @@ -51796,8 +51797,8 @@ "surface type" "Griscelli syndrome type 3" "level of transcription initiation factor TFIID subunit 12 in blood serum" - "retinohepatoendocrinologic syndrome" "Hyperechogenic kidneys" + "retinohepatoendocrinologic syndrome" "level of glutathione peroxidase 2 in blood serum" "level of ADP-ribosylhydrolase ARH1 in blood serum" "Met-Ala" @@ -51827,8 +51828,8 @@ "pooled clone sequencing" "obsolete_congenital pseudoarthrosis of clavicle" "level of serglycin in blood serum" - "tyrosine-protein kinase lyn measurement" "craniodiaphyseal dysplasia" + "tyrosine-protein kinase lyn measurement" "level of malonyl-CoA decarboxylase, mitochondrial in blood serum" "level of islet amyloid polypeptide in blood serum" "level of myosin-binding protein C, fast-type in blood" @@ -51844,14 +51845,14 @@ "polyploidy" "obsolete_inguinal region" "hypoplasminogenemia" - "obsolete_porencephaly-microcephaly-bilateral congenital cataract syndrome" "Intestinal Type Adenocarcinoma" - "obsolete_short rib-polydactyly syndrome" "NOR/LtJ"@en "Staphylococcus lentus" - "serine/arginine-rich splicing factor 7 measurement" + "obsolete_porencephaly-microcephaly-bilateral congenital cataract syndrome" + "obsolete_short rib-polydactyly syndrome" "nectin-3" "level of beta-1,3-galactosyltransferase 1 in blood serum" + "serine/arginine-rich splicing factor 7 measurement" "Joubert syndrome with oculorenal defect" "capillary malformation-arteriovenous malformation 1" "immunodeficiency due to CD25 deficiency" @@ -51891,10 +51892,10 @@ "level of N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 in blood" "anti-human herpes virus 7 antibody measurement"@en "triacylglycerol 50:3 measurement"@en - "sphingomyelin 22:1 measurement"@en "typhasterol" - "developing seed stage" + "sphingomyelin 22:1 measurement"@en "GM17107" + "developing seed stage" "early whole plant fruit ripening stage" "regulation of platelet activation" "obsolete_myometrium" @@ -51913,10 +51914,10 @@ "malignant neoplasm of endocervix" "3-Indolepropionic acid to Homovanillic acid ratio" "macrodactyly of fingers" - "fetal hypoxia" "level of nuclear protein MDM1 in blood serum" "autosomal dominant prognathism" "dilated cardiomyopathy 1HH" + "fetal hypoxia" "age of onset of systemic lupus erythematosus" "alcohol-related disorders" "qualitative or quantitative defects of tropomyosin" @@ -52007,8 +52008,8 @@ "obsolete_Niemann-Pick disease type E" "corneal epithelial cell" "carbamazepine-induced hyponatremia" - "obsolete_6q16 deletion syndrome" "mild hypophosphatasia" + "obsolete_6q16 deletion syndrome" "Epidermophyton floccosum" "level of AP-3 complex subunit beta-1 in blood" "distal arthrogryposis type 5D" @@ -52057,8 +52058,8 @@ "talin rod domain-containing protein 1" "adult extraskeletal osteosarcoma" "immune system disease" - "FiT-Seq" "obsolete_adult Krabbe disease" + "FiT-Seq" "Clear Cell Papillary Cystadenoma" "Kit-low, CD34-positive eosinophil progenitor cell" "X-17185 measurement" @@ -52068,10 +52069,10 @@ "Huntington disease-like 3" "salivary duct carcinoma" "neuronal growth regulator 1 measurement" - "obsolete_T+ B+ severe combined immunodeficiency" - "single nucleus RNA sequencing" "autosomal recessive spinocerebellar ataxia 12" + "obsolete_T+ B+ severe combined immunodeficiency" "heart valve prosthesis" + "single nucleus RNA sequencing" "Charcot-Marie-Tooth disease type 4A" "feather" "pterin-4-alpha-carbinolamine dehydratase" @@ -52091,8 +52092,8 @@ "level of ubiquitin carboxyl-terminal hydrolase 19 in blood serum" "carbohydrate transport" "T-Cell Prolymphocytic Leukemia" - "level of secretoglobin family 3A member 2 in blood serum" "X-12094 measurement" + "level of secretoglobin family 3A member 2 in blood serum" "Smart-seq" "Joubert syndrome 36" "embryonic stem cell" @@ -52210,8 +52211,8 @@ "SKMC" "probable RNA-binding protein 23" "giant axonal neuropathy 2" - "cholesteryl ester 14:0 measurement"@en "fenazaquin" + "cholesteryl ester 14:0 measurement"@en "proton-transporting ATP synthase complex" "obsolete_spondyloepimetaphyseal dysplasia, Bieganski type" "level of selenoprotein P in blood" @@ -52253,10 +52254,10 @@ "E3 ubiquitin-protein ligase HECW1" "embryonal carcinoma cell" "pseudohypoaldosteronism type 2D" + "Disorder of branched-chain amino acid metabolism" "obsolete_rhombomere 3" "pseudo-bulk aggregation of single-cell ATAC-seq data" "HCEC 2CT" - "Disorder of branched-chain amino acid metabolism" "1-linolenoylglycerol (18:3) measurement" "GM3 ganglioside measurement" "HG03521" @@ -52284,12 +52285,12 @@ "hyperinsulinemic hypoglycemia, familial, 1" "obsolete_5q14.3 microdeletion syndrome" "glucosamine-6-phosphate isomerase 1 measurement" - "hypertrophic cardiomyopathy 6" "1-palmitoyl-2-arachidonoyl-GPI (16:0/20:4) measurement" + "hypertrophic cardiomyopathy 6" + "iPS-18a" "deoxycytidylate deaminase" "MCF12A" "Lattice retinal degeneration" - "iPS-18a" "level of alanine--glyoxylate aminotransferase in blood serum" "Sickle cell - hemoglobin C disease" "gastrula stage" @@ -52301,12 +52302,12 @@ "level of farnesyl pyrophosphate synthase in blood serum" "aortic vascular smooth muscle cell calcification measurement" "Ralstonia syzygii" - "glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2" "lymphangiectasis" "Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma" - "PRKCA-binding protein" + "glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2" "A-375P"@en "14-3-3 protein epsilon measurement" + "PRKCA-binding protein" "ubiquitin-like modifier-activating enzyme 6" "immature CD1a-positive dermal dendritic cell" "stabilin-1" @@ -52420,9 +52421,9 @@ "obsolete_partial duplication of chromosome 3" "obsolete_pericardium" "gastric neuroendocrine tumor, well differentiated, low or intermediate grade" + "Intermediate osteopetrosis" "tyrosine-protein phosphatase non-receptor type 13" "Sotos syndrome" - "Intermediate osteopetrosis" "CAL851" "Cavernous Hemangioma" "tachypnea" @@ -52480,9 +52481,9 @@ "Brugada syndrome 9" "level of tumor protein D53 in blood serum" "cranial nerve malignant neoplasm" + "inborn disorder of the gamma-glutamyl cycle" "fibroepithelial polyp" "Pseudomonas syringae pv. phaseolicola" - "inborn disorder of the gamma-glutamyl cycle" "level of corticoliberin in blood serum" "parthenolide" "fetal liver hematopoietic progenitor cell" @@ -52493,8 +52494,8 @@ "obsolete_spondyloepiphyseal dysplasia tarda, Kohn type" "obese body mass index status" "obsolete_Farber lipogranulomatosis" - "IGF-1 measurement" "linoleate (18:2n6) measurement" + "IGF-1 measurement" "SLAM family member 1" "indole-3-acetic-acid-O-glucuronide measurement" "level of CCR4-NOT transcription complex subunit 1 in blood serum" @@ -52516,8 +52517,8 @@ "(2R,3S)-EHNA hydrochloride" "albuminuria" "ENBREL" - "benign uterine ligament neoplasm" "level of sclerostin domain-containing protein 1 in blood serum" + "benign uterine ligament neoplasm" "phenylalanine--tRNA ligase, mitochondrial measurement" "ECC-1" "Alpha-thalassemia - myelodysplastic syndrome" @@ -52543,17 +52544,17 @@ "obsolete_oculocerebrofacial syndrome, Kaufman type" "parkinsonism-dystonia, infantile" "Cucumis melo" - "Deafness - epiphyseal dysplasia - short stature" "Bladder Small Cell Neuroendocrine Carcinoma" + "Deafness - epiphyseal dysplasia - short stature" "level of N-alpha-acetyltransferase 20 in blood serum" "isochromosome Y" "obsolete_humerus" "human HOXA1 syndromes" "Intimal Sarcoma" - "Autosomal recessive spastic paraplegia type 72" "acromesomelic dysplasia 1, Maroteaux type" - "Genetic central nervous system malformation" + "Autosomal recessive spastic paraplegia type 72" "biological pigment" + "Genetic central nervous system malformation" "large artery stroke" "mediator of RNA polymerase II transcription subunit 18" "T-cell leukemia/lymphoma protein 1A" @@ -52614,6 +52615,7 @@ "colon adenocarcinoma" "level of beta-1,3-galactosyltransferase 2 in blood serum" "Plasmopara viticola" + "Multiple sulfatase deficiency" "obsolete_autosomal dominant limb-girdle muscular dystrophy type 1G" "complement C1q-like protein 4 measurement" "triglycerides in large LDL measurement " @@ -52621,7 +52623,6 @@ "alcohol-induced disorders" "protein disulfide-isomerase A2" "polydactyly, postaxial, type A6" - "Multiple sulfatase deficiency" "cerebral artery" "pigmented nodular adrenocortical disease, primary, 1" "benign familial mesial temporal lobe epilepsy" @@ -52677,8 +52678,8 @@ "interleukin-1 family member 5" "ganglioglioma" "fetomaternal transfusion" - "obsolete_T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency" "level of protocadherin beta-2 in blood serum" + "obsolete_T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency" "acute myeloid leukemia, del(13q14-q21)" "dystrophin" "pineal region yolk sac tumor" @@ -52694,10 +52695,10 @@ "Macrothrombocytopenia" "paired immunoglobulin-like type 2 receptor beta" "level of 5alpha-pregnane-3beta,20alpha-diol disulfate in blood" - "growth factor receptor-bound protein 14 measurement" "obsolete_mitochondrial DNA maintenance syndrome" - "Leishmania chagasi" + "growth factor receptor-bound protein 14 measurement" "growth differentiation factor 15 measurement" + "Leishmania chagasi" "obsolete_anterior endoderm anlage" "obsolete_Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons" "ornithine decarboxylase antizyme 1 measurement" @@ -52768,8 +52769,8 @@ "Haloferax volcanii" "NOR1/Lt"@en "afebrile" - "retinoschisin" "obsolete_mesenchyme derived from head mesoderm" + "retinoschisin" "premature ovarian failure 18" "level of signal transducer and activator of transcription 5b in blood serum" "CS57876" @@ -52855,16 +52856,16 @@ "roundabout homolog 2 measurement" "chorionic plate" "epidermolysis bullosa simplex 2C, localized" - "Saccharum sp." "renal tubular acidosis" + "Saccharum sp." "butyrophilin subfamily 2 member A1" "obsolete_melorheostosis with osteopoikilosis" "eyes absent homolog 2" "obsolete_immunodeficiency due to MASP-2 deficiency" "X-12095--N1-methyl-3-pyridone-4-carboxamide measurement" "obsolete_pseudohypoaldosteronism type 2E" - "asialoglycoprotein receptor 2 measurement" "QT interval" + "asialoglycoprotein receptor 2 measurement" "GM17103" "epigen" "obsolete lens shape anomaly" @@ -52970,8 +52971,8 @@ "Panicum virgatum" "level of zinc finger CCHC domain-containing protein 17 in blood serum" "mesoderm development candidate 2" - "small intestinal fibrosarcoma" "level of protein LEG1 homolog in blood" + "small intestinal fibrosarcoma" "level of neurofilament light polypeptide in blood" "FlowSeq" "level of septin-7 in blood" @@ -53030,10 +53031,10 @@ "mature CD1a-positive dermal dendritic cell" "3-hydroxydodecanedioate measurement" "lysophosphatidylcholine 17:0 measurement" - "right" "HG03558" - "obsolete_endocrine system component" + "right" "musculoskeletal system disease" + "obsolete_endocrine system component" "GM17167" "X-linked diffuse leiomyomatosis-Alport syndrome" "FU-OV-1" @@ -53087,9 +53088,9 @@ "level of carcinoembryonic antigen-related cell adhesion molecule 20 in blood" "phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2" "unspecified juvenile idiopathic arthritis" + "Abnormally high-pitched voice" "level of lipocalin-15 in blood" "level of Phosphatidylcholine (18:0_20:2) in blood serum" - "Abnormally high-pitched voice" "GM17260" "glycerophosphoglycerol" "cDNA read size" @@ -53147,10 +53148,10 @@ "Vestibular schwannoma" "growth factor receptor-bound protein 10" "hepatorenocardiac degenerative fibrosis" - "obsolete_gelatinous drop-like corneal dystrophy" "cerebellum" - "obsolete_Rothmund-Thomson syndrome type 1" + "obsolete_gelatinous drop-like corneal dystrophy" "mucopolysaccharidosis type 6, slowly progressing" + "obsolete_Rothmund-Thomson syndrome type 1" "indole ethanol (tryptophanol) measurement" "adenomatous colon polyp" "bronchiectasis" @@ -53160,16 +53161,16 @@ "rectum Kaposi sarcoma" "solute carrier family 35 member G2" "staphyloenterotoxemia" - "obsolete_prolidase deficiency" "Enhancement of the C-reflex" + "obsolete_prolidase deficiency" "iPS DF 6.9" "SK-MEL-5" "Esophagitis" "upper aerodigestive tract neoplasm" "digestive system neoplasm" + "Microcephaly - digital anomalies - intellectual disability" "anxiety" "Influenza A virus (A/Texas/36/1991(H1N1))" - "Microcephaly - digital anomalies - intellectual disability" "histone deacetylase 8 measurement" "diffuse palmoplantar keratoderma - acrocyanosis syndrome" "breast cancer anti-estrogen resistance protein 3 measurement" @@ -53198,8 +53199,8 @@ "Fast-ATAC" "level of exocyst complex component 7 in blood serum" "dual specificity protein phosphatase 3 measurement" - "isolated cleft lip" "lipopolysaccharide-binding protein measurement" + "isolated cleft lip" "Fabry disease" "presumptive segmental plate" "tetradecenoylcarnitine meaasurement"@en @@ -53249,10 +53250,10 @@ "level of specifically androgen-regulated gene protein in blood serum" "brain-lung-thyroid syndrome" "Geospiza difficilis" - "calcineurin B homologous protein 1 measurement" "alopecia, isolated" "steroid hormone" "level of 11-beta-hydroxysteroid dehydrogenase 1 in blood serum" + "calcineurin B homologous protein 1 measurement" "Abnormality of the digestive system" "obsolete_sepal" "mechanical dissociation" @@ -53337,9 +53338,9 @@ "SKUT1" "obsolete_Verloove Vanhorick-Brubakk syndrome" "obsolete_distal 17p13.1 microdeletion syndrome" + "X-11786--methylcysteine measurement" "level of C-type lectin domain family 1 member A in blood" "disseminated candidiasis" - "X-11786--methylcysteine measurement" "congenital anomaly of the great arteries" "Safe-SeqS" "spinal muscular atrophy, type IV" @@ -53476,12 +53477,12 @@ "protein N-terminal glutamine amidohydrolase" "obsolete_complete cryptophthalmia" "thalamic cancer" + "Retinal Neoplasm" "taurolithocholate 3-sulfate measurement" "chromosome 16p11.2 duplication syndrome" "level of protein CutA in blood serum" "HCN-1A"@en "level of E3 ubiquitin-protein ligase CBL-C in blood serum" - "Retinal Neoplasm" "acute myeloid leukemia, t(9;22)(q34.1;q11.2)" "level of superoxide dismutase [Mn], mitochondrial in blood serum" "level of aminoglycoside phosphotransferase domain-containing protein 1 in blood serum" @@ -53516,8 +53517,8 @@ "obsolete_infantile onset spinocerebellar ataxia" "ADP-ribosylhydrolase ARH1" "disease of bone structure" - "Colon Dysplasia" "Charcot-Marie-Tooth disease type 1F" + "Colon Dysplasia" "X-17335 measurement" "1-linoleoyl-sn-glycero-3-phosphoethanolamine" "obsolete_anal region" @@ -53544,8 +53545,8 @@ "Infantile onset" "protein ripply1" "visceral neuropathy, familial, 1, autosomal recessive" - "GM12761" "Capture-C" + "GM12761" "acute gonococcal cervicitis" "upper limb hypertrophy" "myelin P0 protein" @@ -53644,19 +53645,19 @@ "level of leukocyte-specific transcript 1 protein in blood serum" "level of protein enabled in blood serum" "obsolete_seq instrument model flag" - "obsolete_proximal symphalangism" "biomaterial provider" + "obsolete_proximal symphalangism" "TH-1" "level of 39S ribosomal protein L1, mitochondrial in blood serum" "ventricular septal defect" "Jeune syndrome" - "X-linked intellectual disability - ataxia - apraxia" "X-17351 measurement" + "X-linked intellectual disability - ataxia - apraxia" "obsolete_Senior-Loken syndrome" "interleukin-17 receptor D measurement" - "combined oxidative phosphorylation defect type 20" "Abnormal anterior fontanelle morphology" "WD repeat-containing protein 48" + "combined oxidative phosphorylation defect type 20" "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency" "N-acetylputrescine" "obsolete_cell factor" @@ -53694,10 +53695,10 @@ "ADP-ribosylation factor-like protein 1 measurement" "thin ribs-tubular bones-dysmorphism syndrome" "zinc finger protein 415 measurement" + "obsolete_Weill-Marchesani syndrome" "level of hemoglobin subunit gamma-2 in blood serum" "extrahepatic bile duct rhabdomyosarcoma" "level of calsenilin in blood serum" - "obsolete_Weill-Marchesani syndrome" "amisulpride" "obsolete_slow muscle cell somite 1" "level of AN1-type zinc finger protein 1 in blood serum" @@ -53719,11 +53720,11 @@ "3-Indolepropionic acid to L-Tyrosine ratio" "IHCF" "genotyping" + "Syndrome with 46,XX disorder of sex development" "level of cathepsin O in blood serum" "obsolete_fibular hemimelia, bilateral" "cisplatin" "central core myopathy" - "Syndrome with 46,XX disorder of sex development" "3-hydroxylaurate" "intracranial subdural hematoma" "DnaJ homolog subfamily C member 17 measurement" @@ -53798,9 +53799,9 @@ "Goniodysgenesis" "level of Phosphatidylcholine (18:0_20:3) in blood serum" "sodium/potassium-transporting ATPase subunit gamma" + "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation" "level of Tax1-binding protein 1 in blood serum" "spindle" - "Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation" "obsolete_qualitative or quantitative defects of alpha-sarcoglycan" "cell barcode read" "imidazolium cation" @@ -53825,12 +53826,12 @@ "dysplastic oral keratinocyte" "level of sodium/potassium-transporting ATPase subunit beta-3 in blood" "mRNA turnover protein 4" - "ADP-ribosylation factor-like protein 3 measurement" "Impaired epinephrine-induced platelet aggregation" "eye" "iPS-11a" "tooth agenesis, selective, 4" "SK-N-DZ" + "ADP-ribosylation factor-like protein 3 measurement" "free sitosterol measurement"@en "RWD domain-containing protein 1" "syndromic microphthalmia type 5" @@ -53860,8 +53861,8 @@ "SKM-1" "5-Methyluridine measurement" "indolelactate measurement"@en - "Bilateral vestibular schwannoma" "respiratory depression" + "Bilateral vestibular schwannoma" "growth factor receptor-bound protein 14" "peripheral motor neuropathy, childhood-onset, biotin-responsive" "obsolete Joint hyperflexibility" @@ -53925,10 +53926,10 @@ "presumptive shield" "psoriasis area and severity index"@en "ubiquitin-conjugating enzyme E2 G2 measurement" - "nicotine use" "complement factor I deficiency" "X-linked intellectual disability, Pai type" "L-histidine metabolic process" + "nicotine use" "multivesicular body subunit 12B" "level of estradiol 17-beta-dehydrogenase 11 in blood serum" "primary high content screen" @@ -53962,7 +53963,6 @@ "deoxynucleoside triphosphate triphosphohydrolase SAMHD1" "Toxic Nodular Goiter" "hepatobiliary benign neoplasm" - "obsolete_tarsal-carpal coalition syndrome" "T cell activation assay" "level of interleukin-20 receptor subunit beta in blood serum" "obsolete hereditary predisposition to infections" @@ -53973,8 +53973,9 @@ "carbonic anhydrase 5A, mitochondrial" "premature ovarian failure 12" "fatty acid-binding protein 9" - "X-12728 measurement" + "obsolete_tarsal-carpal coalition syndrome" "level of serine--tRNA ligase, cytoplasmic in blood serum" + "X-12728 measurement" "L3055" "SK-N-BE(2) cell" "E3 ubiquitin/ISG15 ligase TRIM25" @@ -54025,8 +54026,8 @@ "idiopathic CD4 lymphocytopenia" "level of procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 in blood serum" "V-set and transmembrane domain-containing protein 1" - "injury design" "liver fibrosis measurement"@en + "injury design" "childhood aggressive behaviour measurement" "obsolete_isolated congenital digital clubbing" "ceroid lipofuscinosis, neuronal, 6B (Kufs type)" @@ -54063,8 +54064,8 @@ "X-11787 measurement" "obsolete_rhombomere 2" "blood N(1)-acetylspermidine measurement" - "lymphatic malformation 5" "Testicular Sclerosing Sertoli Cell Tumor" + "lymphatic malformation 5" "octadecanoids measurement" "Clostridium sporogenes" "congenital heart defects, multiple types, 7" @@ -54227,19 +54228,19 @@ "level of bone morphogenetic protein 3B in blood serum" "obsolete_amelia of upper limb, unilateral" "level of neurensin-1 in blood serum" - "Kapur-Toriello syndrome" "obsolete_Muir-Torre syndrome" + "Kapur-Toriello syndrome" "mercury poisoning" + "dual specificity protein phosphatase 4 measurement" + "allergic sensitization measurement" "obsolete_meningioma" "prostate cancer" - "allergic sensitization measurement" "pilodental dysplasia-refractive errors syndrome" "carcinoembryonic antigen-related cell adhesion molecule 19" "secreted protein identification design" "thioredoxin domain-containing protein 15" "protein disulfide-isomerase A4" "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome" - "dual specificity protein phosphatase 4 measurement" "autosomal recessive nonsyndromic hearing loss 102" "4-methylguaiacol sulfate measurement" "protein eva-1 homolog C measurement" @@ -54249,8 +54250,8 @@ "cardiac troponin I measurement" "isolated anhidrosis with normal sweat glands" "semaphorin-6D" - "PL45" "Colon Inflammatory Polyp" + "PL45" "pathological complete response" "Capture-HiC" "UCSF4" @@ -54293,8 +54294,8 @@ "lower limb hypertrophy" "myelin protein zero-like protein 1" "acute cor pulmonale" - "diacylglycerol 44:7 measurement" "Glomus Jugulare Tumor" + "diacylglycerol 44:7 measurement" "3 hr schistosomulum" "level of proteasome subunit beta type-6 in blood serum" "CD166 antigen measurement" @@ -54304,8 +54305,8 @@ "Luo-Schoch-Yamamoto syndrome" "p-cresol sulfate" "splicing factor U2AF 65 kDa subunit measurement" - "adult cerebellar neoplasm" "histone-lysine N-methyltransferase ASH1L" + "adult cerebellar neoplasm" "nectin-4" "Neonatal sepsis" "serine/threonine-protein kinase Pim-2" @@ -54318,8 +54319,8 @@ "megakaryocyte-erythroid progenitor cell" "cataract-intellectual disability-anal atresia-urinary defects syndrome" "Failure to thrive" - "HETE measurement" "Tendon rupture" + "HETE measurement" "obsolete_hypopharynx anlage" "level of EKC/KEOPS complex subunit TPRKB in blood serum" "neurodevelopmental disorder with or without seizures and gait abnormalities" @@ -54384,8 +54385,8 @@ "Lactobacillus reuteri F275" "obsolete_growth hormone insensitivity syndrome" "Schmidtea mediterranea" - "zinc finger protein 566 measurement" "Hantavirus infectious disease" + "zinc finger protein 566 measurement" "TH-2" "level of calcium-activated potassium channel subunit beta-3 in blood serum" "Pneumonia, Aspiration" @@ -54406,8 +54407,8 @@ "Gray matter heterotopia" "obsolete_46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" "obsolete_arachnoid cyst" - "merkel cell virus seropositivity"@en "Anhidrosis" + "merkel cell virus seropositivity"@en "obsolete_Ehlers-Danlos/osteogenesis imperfecta syndrome" "DB" "Dowling-Degos disease 1" @@ -54437,8 +54438,8 @@ "split-foot malformation-mesoaxial polydactyly syndrome" "level of serine protease 57 in blood serum" "Disease with potential neoplastic degeneration associated with ocular features" - "Nossen ecotype" "tripartite motif-containing protein 72" + "Nossen ecotype" "intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome" "level of protein shisa-2 in blood" "obsolete_pyloric antrum" @@ -54528,8 +54529,8 @@ "thyroid cancer, nonmedullary, 1" "lupus erythematosus" "histone-lysine N-methyltransferase EZH2" - "obsolete_isolated brachycephaly" "Lactobacillus panis" + "obsolete_isolated brachycephaly" "Retinal hemorrhage" "obsolete_subepithelial mucinous corneal dystrophy" "African iron overload" @@ -54564,18 +54565,18 @@ "bronchial disease" "CD244 measurement" "obsolete_unknown leukodystrophy" - "level of beta-1,4-galactosyltransferase 2 in blood serum" "hand dermatosis" - "Hypocrea virens" + "level of beta-1,4-galactosyltransferase 2 in blood serum" "level of glutamate--cysteine ligase regulatory subunit in blood serum" + "Hypocrea virens" "hyaluronan and proteoglycan link protein 4" "level of gem-associated protein 7 in blood serum" "3-Indolepropionic acid to Phenylpyruvic acid ratio" + "Syndromic developmental defect of the eye" + "H157" "Methanobrevibacter smithii ATCC 35061" "neuroligin-1" - "Syndromic developmental defect of the eye" "isovaleric acidemia" - "H157" "methylation profiling" "type III endosome membrane protein TEMP" "5-methyluridine (ribothymidine) measurement"@en @@ -54608,13 +54609,13 @@ "kidney sarcoma" "NK-92"@en "obsolete_presomitic mesoderm" - "1-stearoyl-GPG (18:0) measurement" "liver lobule" "pronephric mesoderm" "metoprolol" "immature CD16-positive myeloid dendritic cell" - "lysophosphatidylcholine 18:3 measurement" + "1-stearoyl-GPG (18:0) measurement" "level of glycosyltransferase 8 domain-containing protein 2 in blood serum" + "lysophosphatidylcholine 18:3 measurement" "maspardin measurement" "NT2-N cell" "obsolete_cultivar" @@ -54643,9 +54644,9 @@ "obsolete_Congenital blindness due to retinal non-attachment" "level of G protein-coupled receptor kinase 5 in blood" "Drug- or toxin-induced pulmonary arterial hypertension" + "obsolete_acromegaloid facial appearance syndrome" "PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome" "autosomal dominant nonsyndromic hearing loss 65" - "obsolete_acromegaloid facial appearance syndrome" "lymphoma" "obsolete_Charcot-Marie-Tooth disease type 4C" "obsolete_Richieri Costa-da Silva syndrome" @@ -54676,8 +54677,8 @@ "mesomelic dysplasia, Kantaputra type" "licoagrodin measurement" "level of tryptophan--tRNA ligase, cytoplasmic in blood serum" - "asphyxia" "Visium Spatial Gene Expression" + "asphyxia" "sphingomyelin 24:0" "sorting and assembly machinery component 50" "X-13435 measurement" @@ -54718,8 +54719,8 @@ "outer ear morphology trait" "visceral neuropathy, familial" "eyelid gland" - "quinine measurement" "N18" + "quinine measurement" "mitochondrial DNA deletion syndrome with progressive myopathy" "obsolete_isolated anorectal malformation" "CS57924" @@ -54778,7 +54779,6 @@ "level of exosome complex component RRP40 in blood serum" "cryptomicrotia-brachydactyly-excess fingertip arch syndrome" "Central polydactyly of toes, bilateral" - "beta-tocopherol measurement" "N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase" "mediastinal mesenchymal tumor" "pre-mRNA-processing factor 19" @@ -54786,10 +54786,11 @@ "behavioural inhibitory control measurement" "obsolete congenital cornea plana" "presumptive neural plate" - "tumor necrosis factor receptor superfamily member 1B measurement"@en + "beta-tocopherol measurement" "SEC14 domain and spectrin repeat-containing protein 1" - "obsolete_lateral ethmoid" + "tumor necrosis factor receptor superfamily member 1B measurement"@en "Microsporum distortum" + "obsolete_lateral ethmoid" "ATP synthase subunit O; mitochondrial measurement" "CCL15 measurement" "meristematic apical cell" @@ -54822,8 +54823,8 @@ "level of cytoplasmic dynein 1 light intermediate chain 1 in blood serum" "particulate matter air pollution measurement" "overdose"@en - "obsolete_genetic cardiac anomaly" "cystoisosporiasis" + "obsolete_genetic cardiac anomaly" "obsolete_neonatal epilepsy syndrome" "Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome" "kelch-like protein 3" @@ -54845,8 +54846,8 @@ "Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities" "ectrodactyly and ectodermal dysplasia without cleft lip/palate" "level of semaphorin-3B in blood serum" - "Familial partial lipodystrophy due to AKT2 mutations" "EF-hand domain-containing protein D1" + "Familial partial lipodystrophy due to AKT2 mutations" "acute myeloid leukemia, Non-KMT2A MLLT10 rearrangement positive" "17-beta-hydroxysteroid dehydrogenase type 3" "Prolonged PR interval" @@ -54878,9 +54879,9 @@ "obsolete_Sanfilippo syndrome type D" "obsolete_congenital adrenal hyperplasia" "obsolete_ring chromosome 12" - "interleukin-5 receptor subunit alpha measurement" "S-nitrosoglutathione" "supraglottis squamous cell carcinoma" + "interleukin-5 receptor subunit alpha measurement" "abortion" "glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form" "X-04500 measurement" @@ -54913,8 +54914,8 @@ "stromelysin-2" "level of zinc finger protein 10 in blood serum" "strongyloidiasis" - "level of ER membrane protein complex subunit 5 in blood serum" "level of Phosphatidylcholine (O-18:2_18:1) in blood serum" + "level of ER membrane protein complex subunit 5 in blood serum" "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" "Pachycladon cheesemanii" "obsolete_Hurler-Scheie syndrome" @@ -54972,16 +54973,16 @@ "obsolete_familial episodic pain syndrome with predominantly upper body involvement" "N-acetyl-L-aspartate(2-)" "amelia of upper limb, unilateral" + "Ptosis - upper ocular movement limitation - absence of lacrimal punctum" + "Hemoglobin SC Disease" "small ubiquitin-related modifier 2" "carcinoembryonic antigen-related cell adhesion molecule 20" "Rabson-Mendenhall syndrome" - "Hemoglobin SC Disease" - "Ptosis - upper ocular movement limitation - absence of lacrimal punctum" "obsolete_T-B+ severe combined immunodeficiency due to CD45 deficiency" "Monteggia's fracture" "dynactin-associated protein measurement" - "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" "global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome" + "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" "level of protocadherin gamma-A12 in blood serum" "toothache" "acute myeloid leukemia, t(11;15)(p15;q35)" @@ -55005,11 +55006,11 @@ "Oomycetes" "bilateral generalized polymicrogyria" "down syndrome cell adhesion molecule measurement" - "Rare disorder with dystonia and other neurologic or systemic manifestation" "Schnitzler syndrome" - "scavenger receptor class F member 2 measurement" "mitochondrial DNA measurement" "ischio-vertebral syndrome" + "scavenger receptor class F member 2 measurement" + "Rare disorder with dystonia and other neurologic or systemic manifestation" "ITM-E6E7-ST" "signal-transducing adaptor protein 1" "autoimmune disorder of cardiovascular system" @@ -55089,9 +55090,9 @@ "Cerebellar malformation" "level of vinexin in blood serum" "spinocerebellar ataxia type 21" + "death-associated protein kinase 2 measurement" "level of dysbindin domain-containing protein 2 in blood serum" "level of aldo-keto reductase family 1 member C4 in blood" - "death-associated protein kinase 2 measurement" "level of nicotinate phosphoribosyltransferase in blood" "Breast hypoplasia" "obsolete_46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency" @@ -55112,8 +55113,8 @@ "dopamine" "diacylglycerol 34:1" "familial pityriasis rubra pilaris" - "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant" "autosomal dominant rhegmatogenous retinal detachment" + "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant" "study design independent variable"@en "independent variable specification" "obsolete disorder of other vitamins and cofactors metabolism and transport" @@ -55269,8 +55270,8 @@ "Forceps delivery" "periodic fever, immunodeficiency, and thrombocytopenia syndrome" "adseverin measurement" - "ribosomal protein S6 kinase beta-2" "total stigmasterol measurement"@en + "ribosomal protein S6 kinase beta-2" "central nervous system leiomyoma" "obsolete_anauxetic dysplasia" "obsolete_pelvis" @@ -55506,10 +55507,10 @@ "Testicular Teratoma" "electrical current" "alliin measurement" - "UMI barcode offset" "AP-3 complex subunit sigma-2 (human)" - "factor XI measurement" + "UMI barcode offset" "GM11992" + "factor XI measurement" "addictive behaviour" "obsolete congenital absence/hypoplasia of fingers excluding thumb" "obsolete_autosomal recessive complex spastic paraplegia" @@ -55626,8 +55627,8 @@ "obsolete_pauciarticular juvenile rheumatoid arthritis" "SNU16" "Autosomal recessive spastic paraplegia type 57" - "guanylate-binding protein 2" "Unclassified primitive or secondary maculopathy" + "guanylate-binding protein 2" "level of protein N-lysine methyltransferase METTL21D in blood" "Abnormal meniscus morphology" "obsolete_Madelung deformity, bilateral" @@ -55641,19 +55642,19 @@ "obsolete syndromic ankyloblepharon" "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial measurement" "hepatitis C virus seropositivity" + "triacylglycerol 52:3 measurement"@en "hypertrichosis of eyelid" "NADH dehydrogenase [ubiquinone] iron-sulfur protein 4, mitochondrial" - "triacylglycerol 52:3 measurement"@en + "persulfide dioxygenase ETHE1, mitochondrial measurement" "OCI-AML3" "level of zinc finger protein 134 in blood serum" - "persulfide dioxygenase ETHE1, mitochondrial measurement" + "subacute sclerosing panencephalitis" "Intention tremor" "Dictyocaulus infectious disease" "IL.00 inflorescence just visible stage" "129S1/SvImJ" "level of Phosphatidylcholine (O-18:2_18:2) in blood serum" "Left atrial enlargement" - "subacute sclerosing panencephalitis" "behavioural disinhibition measurement" "level of transcriptional enhancer factor TEF-5 in blood serum" "triphalangeal thumbs-brachyectrodactyly syndrome" @@ -55821,8 +55822,8 @@ "Inguinal freckling" "disorder of mineral absorption and transport" "LAPC-4" - "obsolete_vitamin B12-unresponsive methylmalonic acidemia type mut-" "programmed cell death protein 4" + "obsolete_vitamin B12-unresponsive methylmalonic acidemia type mut-" "level of Rab GDP dissociation inhibitor alpha in blood serum" "body height" "leucine-rich repeat-containing protein 38" @@ -55943,8 +55944,8 @@ "obsolete_median fin skeleton" "myofibroblastoma" "obsolete_Congenital cataract, Volkmann type" - "Corneoiridogoniodysgenesis" "level of proline-rich AKT1 substrate 1 in blood" + "Corneoiridogoniodysgenesis" "level of nibrin in blood" "histiocytic sarcoma" "parachordal vessel" @@ -55996,9 +55997,9 @@ "Axin-2" "syndrome caused by partial chromosomal deletion" "level of seizure protein 6 in blood" + "level of 2-iminobutanoate/2-iminopropanoate deaminase in blood serum" "level of T-cell leukemia/lymphoma protein 1B in blood serum" "renal pelvis" - "level of 2-iminobutanoate/2-iminopropanoate deaminase in blood serum" "pharyngeal pouch 6" "N-acetylcitrulline" "gingival fibromatosis-hypertrichosis syndrome" @@ -56184,8 +56185,8 @@ "B95-8" "obsolete_phakomatosis cesiomarmorata" "diacylglycerol (12:0/18:1, 14:0/16:1, 16:0/14:1) [1] measurement" - "obsolete_bitter taste sensitivity" "obsolete_brain ischemia" + "obsolete_bitter taste sensitivity" "juvenile days 45-89" "Al-Gazali syndrome" "Absent speech" @@ -56206,8 +56207,8 @@ "triglycerides in medium VLDL measurement" "hereditary papulotranslucent acrokeratoderma" "Complex chromosomal rearrangement" - "urinary bladder, atony of" "fallopian tube mucinous tumor" + "urinary bladder, atony of" "CB4856" "C57BL/6-scid" "protein MRVI1 measurement" @@ -56217,8 +56218,8 @@ "level of otoancorin in blood" "response to perphenazine" "ND00259" - "non-Zellweger spectrum disorder" "level of calcipressin-1 in blood serum" + "non-Zellweger spectrum disorder" "peste des petits ruminants infectious disease" "level of V-set and immunoglobulin domain-containing protein 2 in blood serum" "obsolete_Heinz body anemia" @@ -56261,10 +56262,10 @@ "X-25271 measurement" "myofibrillar myopathy 7" "carotid artery circumferential wall stress measurement" - "erythrose measurement" "obsolete_hypochord" "level of proteasome assembly chaperone 4 in blood serum" "Radio-Tartaglia syndrome" + "erythrose measurement" "obsolete_Rothmund-Thomson syndrome" "taurolithocholic acid sulfate" "obsolete_Melhem-Fahl syndrome" @@ -56333,8 +56334,8 @@ "transcription factor ATOH1" "type 1 diabetes mellitus 20" "hyperthyroxinemia" - "RNA-seq of non coding RNA from single cells" "complement C1q and tumor necrosis factor-related protein 9A measurement" + "RNA-seq of non coding RNA from single cells" "paracetamol sulfate" "colorectal tubulovillous adenoma" "Cervical hypertrichosis - peripheral neuropathy" @@ -56349,8 +56350,8 @@ "GM17795" "Intellectual disability - obesity - brain malformations - facial dysmorphism" "receptor expression-enhancing protein 4" - "obsolete_autosomal dominant popliteal pterygium syndrome" "level of ubiquitin-conjugating enzyme E2 J1 in blood serum" + "obsolete_autosomal dominant popliteal pterygium syndrome" "aldo-keto reductase family 1 member B10" "protein FAM13A" "obsolete_Neu-Laxova syndrome" @@ -56482,8 +56483,8 @@ "level of tRNA (adenine-N(1)-)-methyltransferase non-catalytic subunit TRM6 in blood serum" "age of onset of type 1 diabetes mellitus" "obsolete_qualitative or quantitative defects of protein O-mannosyltransferase 1" - "doxycycline" "obsolete_limb-mammary syndrome" + "doxycycline" "ectropion" "COL4A1-related disorder" "level of adhesion G-protein coupled receptor D1 in blood" @@ -56616,8 +56617,8 @@ "submaxillary gland androgen-regulated protein 3B measurement" "level of protein HEXIM1 in blood" "unilateral polymicrogyria" - "inflammatory skin and bowel disease, neonatal, 2" "obsolete_adenine phosphoribosyltransferase deficiency" + "inflammatory skin and bowel disease, neonatal, 2" "Central nervous system calcification - deafness - tubular acidosis - anemia" "level of perilipin-1 in blood" "obsolete_oculocutaneous or ocular albinism" @@ -56628,15 +56629,15 @@ "level of ADP-ribosylation factor-like protein 11 in blood serum" "obsolete_parotid gland" "obsolete_Naegeli-Franceschetti-Jadassohn syndrome" + "pappalysin‐1 measurement"@en "carbohydrate sulfotransferase 14 measurement" "secreted frizzled-related protein 1 measurement" - "pappalysin‐1 measurement"@en - "obsolete_response to high-dose melphalan" "scrotal carcinoma" - "obsolete_vagal ganglion 2" + "obsolete_response to high-dose melphalan" "basal endosperm transfer layer" "cobalamin transport" "Macaca radiata" + "obsolete_vagal ganglion 2" "obsolete_cancer" "sperm acrosome membrane-associated protein 1" "steroidogenic acute regulatory protein, mitochondrial" @@ -56654,8 +56655,8 @@ "3-hydroxyisobutyric aciduria" "Cyanophage S-BnM1" "obsolete_carpotarsal osteochondromatosis" - "3beta,7alpha-dihydroxy-5-cholestenoate measurement" "Vulvar Squamous Cell Carcinoma" + "3beta,7alpha-dihydroxy-5-cholestenoate measurement" "obsolete_Joubert syndrome" "level of complement C1q tumor necrosis factor-related protein 4 in blood serum" "glutamate receptor ionotropic, delta-1" @@ -56734,8 +56735,8 @@ "Poly(A)-ClickSeq" "GM17818" "chordotonal organ" - "25-hydroxyvitamin D2 measurement" "GM17740" + "25-hydroxyvitamin D2 measurement" "matrix metalloproteinase 1 measurement"@en "BRCA2 and CDKN1A-interacting protein" "disorder of copper metabolism" @@ -56768,8 +56769,8 @@ "thioredoxin-dependent peroxide reductase, mitochondrial" "3MC syndrome" "carbohydrate sulfotransferase 5 measurement" - "dehydroepiandrosterone sulphate measurement" "T47D:A18" + "dehydroepiandrosterone sulphate measurement" "level of cullin-4B in blood serum" "obsolete periodic paralysis with transient compartment-like syndrome" "Congenital absence of upper arm and forearm with hand present, bilateral" @@ -56826,14 +56827,14 @@ "obsolete_familial expansile osteolysis" "persian gulf syndrome" "level of 5'(3')-deoxyribonucleotidase, cytosolic type in blood serum" - "obsolete_proximal 16p11.2 microdeletion syndrome" "obsolete_maternal 14q32.2 microdeletion syndrome" "obsolete primary bone dysplasia with increased bone density" + "obsolete_proximal 16p11.2 microdeletion syndrome" "low-density lipoprotein receptor-related protein 6" "Emanuel syndrome" "level of beta-glucuronidase in blood" - "level of nuclear receptor coactivator 7 in blood serum" "renal dysplasia, bilateral" + "level of nuclear receptor coactivator 7 in blood serum" "obsolete_response to cytosine arabinoside" "hindbrain" "level of Rho GDP-dissociation inhibitor 2 in blood serum" @@ -56854,10 +56855,10 @@ "NCI-H2803" "nephrolithiasis" "Abnormal frontal bone morphology" - "technician" "Secondary glaucoma due to a proliferation and differentiation anomaly" - "acquired pituitary hormone deficiency" + "technician" "obsolete_colorectal cancer" + "acquired pituitary hormone deficiency" "level of Phosphatidylcholine (18:0_22:6) in blood serum" "level of ADP-ribosylation factor-binding protein GGA3 in blood serum" "frizzled-1" @@ -56881,11 +56882,11 @@ "obsolete_Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2" "familial reactive perforating collagenosis" "fructose-bisphosphate aldolase C measurement" - "mean corpuscular volume" "Angelman syndrome due to paternal uniparental disomy of chromosome 15" + "mean corpuscular volume" "inclusion body myopathy and brain white matter abnormalities" - "renal pelvis/ureter" "AB SOLiD 5500" + "renal pelvis/ureter" "protein transport protein Sec61 subunit beta" "chronic kidney disease" "obsolete_larval stage" @@ -56909,8 +56910,8 @@ "pemphigoid gestationis" "Hypomyelination neuropathy - arthrogryposis" "4-acetamidobutanoate-to-X-03056--N-[3-(2-Oxopyrrolidin-1-yl)propyl]acetamide ratio" - "craniosynostosis syndrome, autosomal recessive" "mixed sex population" + "craniosynostosis syndrome, autosomal recessive" "NKG2-F type II integral membrane protein" "obsolete_partial duplication of the long arm of chromosome 1" "fallopian tube adenocarcinoma" @@ -56930,8 +56931,8 @@ "level of band 4.1-like protein 5 in blood" "Abnormal blood ion concentration" "hereditary angioedema with normal C1Inh" - "cholesterol in IDL measurement " "SPO" + "cholesterol in IDL measurement " "isolated autosomal dominant hypomagnesemia, Glaudemans type" "cleft lip and alveolus" "thymic T cell selection" @@ -56969,9 +56970,9 @@ "cortical thymoma" "obsolete non-infectious posterior uveitis" "Scott syndrome" + "Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" "small intestine primordium" "primary failure of tooth eruption" - "Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" "SET-2" "level of phosphofurin acidic cluster sorting protein 2 in blood" "response to quetiapine" @@ -57004,8 +57005,8 @@ "ubiquitin carboxyl-terminal hydrolase MINDY-1" "middRAD" "Focal epilepsy - intellectual disability - cerebro-cerebellar malformation" - "level of importin subunit alpha-3 in blood serum" "obsolete congenital central hypoventilation syndrome" + "level of importin subunit alpha-3 in blood serum" "obsolete_autosomal recessive hypophosphatemic rickets" "Congenital intrauterine infection-like syndrome" "level of 3'(2'),5'-bisphosphate nucleotidase 1 in blood serum" @@ -57076,16 +57077,16 @@ "cyclin-dependent kinase 4 inhibitor B" "leukocyte immunoglobulin-like receptor subfamily B member 5" "intersectin-1 measurement" - "fibula fracture" "cyclazosin hydrochloride" "Onthophagus nigriventris" + "fibula fracture" "level of cytoglobin in blood serum" "benign neoplasm of spleen" - "ovarian hyperstimulation syndrome" "Chlamydia pneumoniae seropositivity" + "ovarian hyperstimulation syndrome" "caspase-5" - "syntaxin-2" "obsolete_pigmented paravenous retinochoroidal atrophy" + "syntaxin-2" "level of leucine-rich repeat-containing protein 37A2 in blood serum" "obsolete_craniofacial skeleton bone" "obsolete_chronic respiratory distress with surfactant metabolism deficiency" @@ -57105,8 +57106,8 @@ "Mayer-Rokitansky-Kuster-Hauser syndrome" "cambium" "Appendix Goblet Cell Carcinoid" - "DPM1-CDG" "warfarin" + "DPM1-CDG" "level of dihydrofolate reductase in blood serum" "Growth delay" "number of cancers, self-reported" @@ -57155,8 +57156,8 @@ "Na(+)/H(+) exchange regulatory cofactor NHE-RF2" "embryo stage" "ichthyosis with erythrokeratoderma" - "level of paraspeckle component 1 in blood serum" "Buratti-Harel syndrome" + "level of paraspeckle component 1 in blood serum" "4-methyl-2-oxopentanoate" "level of dynein light chain Tctex-type 1 in blood serum" "obsolete_Familial dementia, British type" @@ -57172,8 +57173,8 @@ "level of FXYD domain-containing ion transport regulator 5 in blood" "CCL21 measurement" "mismatch repair endonuclease PMS2" - "CCN family member 4" "Familial osteochondritis dissecans" + "CCN family member 4" "distal trisomy 15q" "level of transcription factor E2F5 in blood serum" "saccharin" @@ -57200,8 +57201,8 @@ "protocadherin beta-1 measurement" "ciliary dyskinesia, primary, 39" "obsolete_bipartite talus" - "seqFISH" "Biphasic Mesothelioma" + "seqFISH" "X-10458 measurement" "cysteine-rich protein 2" "obsolete_low anorectal malformation" @@ -57257,14 +57258,14 @@ "level of synembryn-A in blood serum" "microcephaly" "disorder of development or morphogenesis" - "Thumb deformity - alopecia - pigmentation anomaly" "D-Erythronolactone measurement" "glutamate receptor 4" "NCI-H125" "Autosomal recessive spastic paraplegia type 76" - "GM17835" + "Thumb deformity - alopecia - pigmentation anomaly" "hypertrophic osteoarthropathy, primary, autosomal recessive, 1" "L-2-hydroxyglutaric aciduria" + "GM17835" "syntaxin-2 measurement" "esophagitis" "spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome" @@ -57320,8 +57321,8 @@ "age of onset of childhood onset asthma" "succinate dehydrogenase assembly factor 2, mitochondrial measurement" "CATCH-seq" - "intellectual disability, autosomal dominant 29" "obsolete_adrenomyodystrophy" + "intellectual disability, autosomal dominant 29" "Transverse facial cleft" "multiple cutaneous and mucosal venous malformations" "CS57658" @@ -57374,8 +57375,8 @@ "Geospiza magnirostris" "phosphate ion homeostasis" "plakophilin-2" - "temporal horn of lateral ventricle volume measurement"@en "C18:3 lysophosphatidylethanolamine measurement" + "temporal horn of lateral ventricle volume measurement"@en "level of ADP-ribosylation factor-like protein 15 in blood serum" "Severe muscular hypotonia" "level of potential tRNA (adenine-N(1)-)-methyltransferase catalytic subunit TRMT61B in blood serum" @@ -57402,8 +57403,8 @@ "ribose phosphate diphosphokinase activity" "regulation of RNA splicing" "obsolete_dentinogenesis imperfecta type 2" - "obsolete_qualitative or quantitative defects of dysferlin" "Lactobacillus johnsonii" + "obsolete_qualitative or quantitative defects of dysferlin" "Warthin Tumor" "level of complement C1q tumor necrosis factor-related protein 5 in blood serum" "glutamate receptor ionotropic, delta-2" @@ -57436,8 +57437,8 @@ "Cardiac anomalies - heterotaxy" "calcyphosin" "high-risk pregnancy" - "level of long-chain specific acyl-CoA dehydrogenase, mitochondrial in blood serum" "Herpesviridae infectious disease" + "level of long-chain specific acyl-CoA dehydrogenase, mitochondrial in blood serum" "phosphorylase kinase activity" "Pool-Seq" "osteopathia striata-pigmentary dermopathy-white forelock syndrome" @@ -57551,8 +57552,8 @@ "granulosa cell" "intellectual disability, autosomal recessive 1" "obsolete_qualitative or quantitative defects of alpha-actin" - "Atrioventricular canal defect" "neuroschistosomiasis" + "Atrioventricular canal defect" "beta-defensin 115 measurement" "membranous glomerulonephritis" "ILSXISS97/TejJ" @@ -57660,8 +57661,8 @@ "frontotemporal dementia, right temporal atrophy variant" "CB4932" "SK-UT-2 " - "oophoritis" "NOD.B6" + "oophoritis" "citrate synthase, mitochondrial" "2-aminooctanoate measurement" "Adipic acid measurement" @@ -57684,8 +57685,8 @@ "syntaxin-1B" "pulmonary valve stenosis" "obsolete_ataxia telangiectasia" - "level of desmocollin-1 in blood serum" "pseudomembranous enterocolitis" + "level of desmocollin-1 in blood serum" "obsolete X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome" "level of membrane-bound transcription factor site-1 protease in blood serum" "lung structure" @@ -57698,10 +57699,10 @@ "Bromus secalinus" "infantile-onset epilepsy" "protein turtle homolog A measurement" - "nitrite measurement" "Drosophila teissieri" "transmembrane protein 87B" "level of Lys-Leu in blood" + "nitrite measurement" "pseudohypoaldosteronism" "IgM short lived plasma cell" "bacteroides seropositivity" @@ -57724,8 +57725,8 @@ "level of hydroxyacyl-coenzyme A dehydrogenase, mitochondrial in blood" "Pulmonary arterial hypertension associated with connective tissue disease" "IMP" - "autosomal recessive limb-girdle muscular dystrophy type 2U" "obsolete_partial deletion of the long arm of chromosome 13" + "autosomal recessive limb-girdle muscular dystrophy type 2U" "ajmaline" "Waardenburg syndrome" "level of Rho guanine nucleotide exchange factor 1 in blood serum" @@ -58674,8 +58675,8 @@ "Joint pains" "Arthritic pain" "CA" - "STAD" "STAD" + "STAD" "intellectual disability, autosomal recessive 41" "mental retardation, autosomal recessive 41" "MRT41" @@ -58714,9 +58715,6 @@ "intellectual disability syndrome, Mietens-WEBER type" "corneal opacity, nystagmus, flexion contracture of the elbows, growth failure, and intellectual disability" "Mietens-Weber syndrome" - "Devic syndrome" - "Devic's neuromyelitis optica" - "NMO" "BARE lymphocyte syndrome, type II" "Bare lymphocyte syndrome, type II" "SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included" @@ -58746,6 +58744,9 @@ "BARE lymphocyte syndrome" "immunodeficiency by defective expression of HLA class 2" "Bls, type 2" + "Devic syndrome" + "Devic's neuromyelitis optica" + "NMO" "n. tibialis" "ACPHD" "ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus" @@ -60229,8 +60230,8 @@ "Ibm" "Isolated hypogonadotropic hypogonadism" "infratentorial primitive neuroectodermal tumour" - "CPNET" "CPNET" + "CPNET" "localised primitive neuroectodermal tumour" "CNS PNET" "medulloblastoma with extensive nodularity" @@ -60238,8 +60239,8 @@ "medulloblastoma, Desmoplastic" "cerebellar medulloblastoma" "medulloblastoma, desmoplastic" - "MDB" "MDB" + "MDB" "localized primitive neuroectodermal tumor" "multiple osseous dysplasia, characteristic ear shape, and short stature" "auriculo-osteodysplasia" @@ -60569,8 +60570,8 @@ "D" "DL-Asparagic acid" "severe microcephaly with mental retardation and dilated cardiomyopathy" - "microcephaly with cardiomyopathy" "severe microcephaly with intellectual disability and dilated cardiomyopathy" + "microcephaly with cardiomyopathy" "microcephaly-cardiomyopathy" "severe microcephaly and self-limiting dilated cardiomyopathy" "autosomal recessive spastic paraplegia type 74" @@ -62301,8 +62302,8 @@ "infection, tapeworm" "Coenuriasis" "malignant Langerhans cell sarcoma" - "LCS" "LCS" + "LCS" "physiological sexual dysfunctions" "sexual dysfunctions, physiological" "sexual disorders, physiological" @@ -62421,8 +62422,8 @@ "SCN8A epilepsy" "squamous cell carcinoma of the vulva/vagina" "renal cortex collecting duct" - "Collapsed nostrils" "NSGCT" + "Collapsed nostrils" "trisomy 17q" "chromosome 17q duplication" "partial trisomy 17q" @@ -62506,8 +62507,8 @@ "spastic paraplegia 17" "columnar neuron" "nodi lymphoidei mesenterici" - "ACCC" "ACCC" + "ACCC" "acinic cell tumour" "acinic cell tumor" "white muscle" @@ -62963,8 +62964,8 @@ "amyloidosis corneal" "lattice corneal dystrophy, type 3" "Retinal disease" - "STAS" "STAS" + "STAS" "2-Amino-4-mercaptobutyric acid" "Hcy" "campomelic dysplasia and related disorders" @@ -63557,8 +63558,8 @@ "CHRCC" "CHRCC" "ChRCC" - "CRCC" "CRCC" + "CRCC" "amiodarona" "2-Butyl-3-benzofuranyl 4-(2-(diethylamino)ethoxy)-3,5-diiodophenyl ketone" "2-n-Butyl-3',5'-diiodo-4'-N-diethylaminoethoxy-3-benzoylbenzofuran" @@ -63889,6 +63890,7 @@ "PC(38:3)" "GPCho(38:3)" "PC 38:3" + "Pancoast's tumour" "hereditary motor and sensory neuropathy 2 C" "HMSN 2 C" "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C" @@ -63905,7 +63907,6 @@ "4,4'-(3H-2,1-benzoxathiol-3-ylidene)bisphenol S,S-dioxide" "Phenolsulfonphthalein" "3,3-bis(p-hydroxyphenyl)-3H-2,1-benzoxathiole 1,1-dioxide" - "Pancoast's tumour" "absent eyebrows and eyelashes with intellectual disability" "absent eyebrows and eyelashes with mental retardation" "mental retardation, absence of eyebrows and eyelashes, progressive spastic quadriplegia, microcephaly, glaucoma, and small, beaked nose" @@ -64200,8 +64201,8 @@ "Burkitts lymphoma cell" "Burkitt's lymphoma cell" "African lymphoma cell" - "HLHS1" "metaplastic adenosquamous carcinoma" + "HLHS1" "primary dystonia, DYT21 type" "Moderate neural deafness" "Myoclonic epilepsy, progressive" @@ -65625,8 +65626,8 @@ "infections, Bartonellaceae" "infection, Bartonellaceae" "Bartonellaceae infection" - "MESOM" "MESOM" + "MESOM" "response to beta-1 interferon" "pulmonary vascular element" "PMGYSA" @@ -66790,6 +66791,13 @@ "dermatographia" "vibratory urticaria" "familial dermographism" + "Farbstoffe" + "teintures" + "colorante" + "Farbstoff" + "teinture" + "colorantes" + "dyes" "Liver disease" "thyroiditis, lymphocytic" "lymphocytic thyroiditides" @@ -67415,8 +67423,8 @@ "macula" "maculae" "macula retinae" - "AMPCA" "AMPCA" + "AMPCA" "disorder of anterior pituitary gland" "adenocarcinoma of ampulla of vater" "2-hydroxyacetaminophen sulfate" @@ -67591,8 +67599,8 @@ "Spirochetosis" "right lung inferior lobe" "right lung caudal lobe" - "APAD" "APAD" + "APAD" "cod-MD syndrome" "MDDGA1" "hydrocephalus, agyria, and retinal dysplasia" @@ -68068,8 +68076,8 @@ "papillary stomach adenocarcinoma" "acute myeloblastic leukaemia type 1" "acute myeloblastic leukemia type 1" - "AWM" "AWM" + "AWM" "L-Val-Gly" "VG" "V-G" @@ -68289,8 +68297,8 @@ "[N2-[(S)-1-CARBOXY-3-PHENYLPROPYL]-L-LYSYL-L-PROLINE" "(S)-1-(N(2)-(1-carboxy-3-phenylpropyl)-L-lysyl)-L-proline" "lisinopril anhydrous" - "LIDLS" "adenoid cystic carcinoma of ethmoid sinus" + "LIDLS" "N-(L-Arginino)succinate" "N(omega)-(L-Arginino)succinate" "N-(L-arginino) succinate" @@ -68569,20 +68577,20 @@ "nerve fiber" "myoclonus cerebellar ataxia deafness" "myoclonus, cerebellar ataxia, and deafness" - "STSC" "STSC" - "AM" + "STSC" "AM" + "AM" "acute myeloblastic leukaemia type 2" "acute myeloblastic leukemia type 2" "LAM M2" + "MRMV3" "triacylglycerol(58:12)" "TAG(58:12)" "TG(58:12)" "Verloes-Lesenfants syndrome" "macroblepharon, ectropion, hypertelorism, and macrostomia" "mandibulofacial dysostosis with macroblepharon and macrostomia" - "MRMV3" "Losses, mixed hearing" "hearing loss, mixed conductive sensorineural" "mixed type deafness" @@ -68858,12 +68866,12 @@ "Somatomedin-secreting carcinoid" "albinism, black lock, cell migration disorder of the Neurocytes of the gut, and deafness" "ABCDS" - "CHBL" - "CHBL" "basal ganglia disease, biotin-responsive" "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)" "encephalopathy, thiamine-responsive" "THMD2" + "CHBL" + "CHBL" "congenital joint dislocations" "BRPS" "BAINBRIDGE-ROPERS syndrome" @@ -69164,8 +69172,8 @@ "olfactory apparatus" "IDDABS" "INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE" - "THYM" "THYM" + "THYM" "SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28" "SCAR28" "Dull intelligence" @@ -69362,8 +69370,8 @@ "frontotemporal lobar degeneration with TDP43 inclusions, GRN-related" "frontotemporal dementia, ubiquitin-positive" "aphasia, primary progressive" - "LCLC" "LCLC" + "LCLC" "haemoglobin" "vertebrate haemoglobin" "cryptorchidism arachnodactyly intellectual deficit" @@ -69868,8 +69876,8 @@ "THYMUS" "Paget disease, EXTRAMAMMARY" "cutaneous Paget's disease" - "EMPD" "EMPD" + "EMPD" "intellectual disability with language impairment and with or without autistic features" "mental retardation with language impairment and with or without autistic features" "FOXP1 related global developmental delay, intellectual disability and speech defects" @@ -69953,8 +69961,8 @@ "Lacunar retinal depigmentation" "female paramesonephric duct" "tuba uterina" - "paramesonephric duct of female" "fallopian tubes" + "paramesonephric duct of female" "THCYT2" "3-[4-(3-chlorophenyl)piperazin-1-yl]-1,1-diphenylpropan-2-ol monohydrochloride" "BRL 15572 monohydrochloride" @@ -70252,8 +70260,8 @@ "Diphenyle chlore, 54% de chlore" "Chlorierte biphenyle, chlorgehalt 54%" "amaurosis congenita of Leber, type 9" - "IHCH" "IHCH" + "IHCH" "phosphoethanol-aminuria" "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and Proteinuria" "diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria" @@ -70475,8 +70483,8 @@ "acides gras" "acide gras" "Fettsaeure" - "CM" "CM" + "CM" "colon signet ring adenocarcinoma" "vanadium(V) oxide" "V2O5" @@ -71887,8 +71895,8 @@ "Natriumpyruvat" "Kaposi sarcoma herpesvirus" "Kaposi's sarcoma-associated herpesvirus (KSHV)" - "KSHV" "KSHV" + "KSHV" "Mediterranean Kaposi sarcoma" "non AIDS related Kaposi sarcoma" "African lymphadenopathic Kaposi's sarcoma" @@ -72662,8 +72670,8 @@ "minociclinum" "minomycin" "rotator cuff tear" - "ANSC" "ANSC" + "ANSC" "N-L-Valyl-L-leucine" "VL" "L-Val-L-Leu" @@ -72939,8 +72947,8 @@ "phosphorylase kinase deficiency of liver and muscle, autosomal recessive" "glycogenosis of liver and muscle, autosomal recessive" "glycogen storage disease due to liver and muscle phosphorylase kinase deficiency" - "CNL" "CNL" + "CNL" "Myxothiazol A" "(+)-myxothiazol" "(+)-myxothiazol A" @@ -73863,8 +73871,8 @@ "fluconazole" "fluconazole" "adenocarcinoma of maxillary sinus" - "SCLC1" "SCLC1" + "SCLC1" "small cell cancer of the lung" "gamma-Glu-Phe" "cleft palate, CARDIAC defect, genital anomalies, and ectrodactyly" @@ -74535,8 +74543,8 @@ "Ladda Zonana Ramer syndrome" "anterior limiting membrane" "Reichert's membrane" - "PTCY" "PTCY" + "PTCY" "SEMDSH" "spondyloepimetaphyseal dysplasia Shohat type" "SEMD Shohat type" @@ -74858,8 +74866,8 @@ "cataract, autosomal recessive congenital 3" "mental retardation, X-linked, syndromic, Mircsof-Langouet type" "intellectual disability, X-linked, syndromic, Mircsof-Langouet type" - "CEMU" "CEMU" + "CEMU" "hypofibrinogenemia, familial" "optic atrophy 1" "optic atrophy, Kjer type" @@ -75044,8 +75052,8 @@ "cortical dysplasia of Taylor with balloon cells" "focal cortical dysplasia, type 2" "focal cortical dysplasia, type 2A" - "AMLMD" "AMLMD" + "AMLMD" "primordium of face" "facial primordium" "embryonic facial process" @@ -75568,8 +75576,8 @@ "congenital transposition of the penis" "Prepenile scrotum" "COASY protein-associated neurodegeneration" - "DDCHS" "DDCHS" + "DDCHS" "spastic paraplegia 21, autosomal recessive" "malignant germ cell tumor of the corpus uteri" "malignant germ cell tumour of the corpus uteri" @@ -75950,8 +75958,8 @@ "mucoepidermoid carcinoma of the lung" "Del Castillo syndrome" "highly aggressive undifferentiated carcinoma of the nasal cavity and paranasal sinuses" - "SNUC" "SNUC" + "SNUC" "lobus parietalis" "myelopathy" "pentosenucleic acids" @@ -76341,8 +76349,8 @@ "spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures" "Upslanted palpebral fissures" "glandulae salivariae" - "SCCE" "SCCE" + "SCCE" "Ehlers-Danlos syndrome, classic-like, 1" "EMERY-Dreifuss muscular dystrophy 7, autosomal dominant" "EDMD7" @@ -77319,8 +77327,8 @@ "congenital aplasia of the extensor muscles of the fingers and thumb associated with generalised polyneuropathy" "aplasia of extensor muscles of fingers, unilateral, with generalised polyneuropathy" "polyneuropathy, hand defect" - "ADNOS" "ADNOS" + "ADNOS" "acyl-Coa dehydrogenase family, member 8, deficiency of" "IBD deficiency" "Acad8 deficiency" @@ -77907,10 +77915,6 @@ "Anisospondylic Camptomicromelic dwarfism, Rolland-Desbuquois type" "dyssegmental dwarfism, Rolland-Desbuquois type" "severe congenital (neonatal) NM" - "neonatal hypoxic and ischaemic brain injury" - "hypoxic and ischemic brain injury in the newborn" - "neonatal hypoxic and ischemic brain injury" - "hypoxic and ischaemic brain injury in the newborn" "maple syrup urine disease, type 3" "E3 deficiency" "maple syrup urine disease, type III" @@ -77923,6 +77927,10 @@ "Alpha KGD deficiency" "2-ketoglutarate dehydrogenase deficiency" "Alpha-Kgd deficiency" + "neonatal hypoxic and ischaemic brain injury" + "hypoxic and ischemic brain injury in the newborn" + "neonatal hypoxic and ischemic brain injury" + "hypoxic and ischaemic brain injury in the newborn" "BPH" "prostatic hyperplasia, benign" "Imuran (TN)" @@ -78808,8 +78816,8 @@ "Z E syndrome" "Z-E syndrome" "pancreatic ulcerogenic tumour syndrome" - "ZES" "ZES" + "ZES" "poikiloderma congenitale" "poikiloderma atrophicans and cataract" "tumour cell" @@ -79564,8 +79572,8 @@ "familial infiltrative fibromatosis" "desmoid disorder, hereditary" "fibromatosis, familial infiltrative" - "FIF" "FIF" + "FIF" "desmoid disease, hereditary" "desmoid/aggressive fibromatosis" "desmoid tumor caused by somatic mutation" @@ -79917,8 +79925,8 @@ "placental villus" "chorionic villus" "placental villi" - "villous of placenta" "chorionic villous" + "villous of placenta" "embryonic placenta" "neutral lipid storage disease without ichthyosis" "triglyceride deposit cardiomyovasculopathy" @@ -80452,8 +80460,8 @@ "ARB" "bestrophinopathy, autosomal recessive" "keratoderma palmoplantar spastic paralysis" - "MMB" "MMB" + "MMB" "brain trauma" "brain Traumas" "split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects" @@ -80677,15 +80685,15 @@ "cystic dilatation of the intrahepatic biliary tree" "CAROLI disease, isolated" "congenital polycystic dilatation of intrahepatic bile ducts" - "GRCT" - "GRCT" - "granulosa cell tumor, undetermined" "Histidinyl-Alanine" "HA" "L-His-L-Ala" "N-(2-Amino-2-carboxyethyl)histidine" "Histidinoalanine" "histidylalanine" + "GRCT" + "GRCT" + "granulosa cell tumor, undetermined" "gallbladder mucinous carcinoma" "Puertorican infant hypotonia syndrome" "Dysharmonic skeletal maturation muscular fibre disproportion" @@ -82662,8 +82670,8 @@ "infection caused by Ascaridia" "ascaridiosis" "isolated nail anomaly" - "PAAD" "PAAD" + "PAAD" "retinal dysplasia X-linked" "retinal dysplasia, primary" "PRD" @@ -83009,15 +83017,15 @@ "glycosuria, renal" "GLYS" "RTPS2" + "MDDGC12" + "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12" + "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" "dystrophia myotonica 2" "myotonic dystrophy 2" "myotonic myopathy, proximal" "PROMM" "dystrophia myotonica type 2" "DM2" - "MDDGC12" - "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12" - "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related" "sulfanylpurines" "mercaptopurines" "thiopurines" @@ -83420,10 +83428,10 @@ "DPM3-CDG (CDG-Io)" "DG1O" "CDG Io" + "skull base cancer" "Waardenburg syndrome, type 1" "Waardenburg syndrome with dystopia canthorum" "Waardenburg's syndrome type 1" - "skull base cancer" "bronchial tissue" "retraction syndrome" "Duane anomaly" @@ -83907,13 +83915,13 @@ "4-Phenyl-n-butyric acid" "gamma-phenylbutyric acid" "pericardial mesothelioma" - "synostosis of talus and calcaneus with short stature" - "TCC" - "tarsal carpal coalition syndrome" "poliglusam" "Deacetylchitin" "beta-1,4-Poly-D-glucosamine" "[4)-beta-D-GlcpN(1->]n" + "synostosis of talus and calcaneus with short stature" + "TCC" + "tarsal carpal coalition syndrome" "microcoria - congenital nephrotic syndrome" "microcoria-congenital nephrotic syndrome" "microcoria - congenital nephrosis" @@ -84034,8 +84042,8 @@ "Cyclo(2-amino-8-oxo-9,10-epoxydecanoic acid-prolyl-alanyl-alanine)" "Cyclo(aoe-pro-ala-ala)" "Embolism and thrombosis" - "PRV" "PRV" + "PRV" "primary polycythemia" "hepatolenticular Degeneration" "WD" @@ -84159,8 +84167,8 @@ "GPCho(38:5)" "PC 38:5" "PC(38:5)" - "BRCA" "BRCA" + "BRCA" "IMD48" "STCD" "severe combined immunodeficiency due to ZAP70 deficiency" @@ -84742,10 +84750,10 @@ "TAXOL" "cystinosis, intermediate" "cystinosis, late-onset juvenile or adolescent nephropathic type" + "Gonococcal urethritis" "triacylglycerol(58:9)" "TG(58:9)" "TAG(58:9)" - "Gonococcal urethritis" "Diffusely thickened skin" "infections, Human respiratory syncytial virus" "porphyria cutania tarda" @@ -86674,8 +86682,8 @@ "mental retardation, autosomal recessive 35" "intellectual disability, autosomal recessive 35" "spinocerebellar ataxia 14" - "lipomatous medulloblastoma (formerly)" "lipomatous medulloblastoma (formerly)" + "lipomatous medulloblastoma (formerly)" "CLNC" "CLNC" "prootics" @@ -87303,9 +87311,9 @@ "Krintafel" "Arakoda" "WR238605" + "NUT midline carcinoma of the head and neck" "Herpes zoster ophthalmicus (HZO)" "HZO" - "NUT midline carcinoma of the head and neck" "colonic ischemia" "chorioid" "choroidea" @@ -87771,8 +87779,8 @@ "chlorphenamine" "chlorphenamine" "embryonal cancer" - "EMBT" "EMBT" + "EMBT" "greater vestibular glands of Bartholin" "glandula vestibularis major" "Duverney's gland" @@ -88574,8 +88582,8 @@ "liver glycogen synthase deficiency" "glycogen storage disease type 0" "liver GSD 0" - "AITL" "AITL" + "AITL" "disorder of heart muscle" "syndrome, HBOC" "hereditary breast ovarian cancer" @@ -88820,8 +88828,8 @@ "polyneuropathy intellectual disability acromicria premature menopause" "Gastrointestinal hamartomatous polyps" "COGIS" - "glomerular capillaries" "glomerular capillary system" + "glomerular capillaries" "nucleus proprius stria terminalis (bed nucleus)" "nucleus interstitialis striae terminalis" "nucleus of the stria terminalis" @@ -89203,8 +89211,8 @@ "GR127935 hydrochloride" "ptosis, strabismus, and ectopic pupils" "ptosis strabismus ectopic pupils" - "GBASC" "GBASC" + "GBASC" "rhabdomyosarcoma alveolar" "rhabdomyosarcoma, alveolar" "rhabdomyosarcoma 2" @@ -89815,8 +89823,8 @@ "fludrocortisone" "fludrocortisone" "fludrocortisona" - "LXSC" "LXSC" + "LXSC" "LIGOWS" "LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME" "PRSCC" @@ -91246,8 +91254,8 @@ "CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7" "CHTD7" "cystitis in trichomoniasis" - "eye field" "eye anlage" + "eye field" "optic field" "optic placodes" "type II hyperlipidemia" @@ -91378,13 +91386,13 @@ "deletion 6q" "pervasive child development disorders" "pervasive development disorders" - "kapur Toriello syndrome" - "long columella with cleft Lip/palate and eye, heart, and intestinal anomalies" - "long columella with cleft lip/palate and eye, heart and intestinal anomalies" "MUIR-Torre syndrome" "cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas" "MRTES" "cutaneous sebaceous neoplasms and keratoacanthomas, multiple, with gastrointestinal and Other carcinomas" + "kapur Toriello syndrome" + "long columella with cleft Lip/palate and eye, heart, and intestinal anomalies" + "long columella with cleft lip/palate and eye, heart and intestinal anomalies" "Mercury toxicity" "Trichodental dysplasia with hyperopia" "PILODENTAL dysplasia with refractive errors" @@ -91502,8 +91510,8 @@ "DDD1" "DDD" "reticular pigment anomaly of flexures" - "TMT" "TMT" + "TMT" "SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE" "SPG81" "juvenile sulfatidosis" @@ -92193,6 +92201,10 @@ "factor XII deficiency" "factor 12 deficiency" "Haf deficiency" + "Subacute sclerosing leukoencephalitis" + "Dawson encephalitis" + "Dawson disease" + "panencephalitis, SUBACUTE sclerosing" "Terminal tremor" "Cerebellar tremor" "infections, Dictyocaulus" @@ -92200,10 +92212,6 @@ "Dictyocaulus infection" "Dictyocauliasis" "Dictyocauliases" - "Subacute sclerosing leukoencephalitis" - "Dawson encephalitis" - "Dawson disease" - "panencephalitis, SUBACUTE sclerosing" "triphalangeal thumb and brachyectrodactyly syndrome" "triphalangeal thumbs brachyectrodactyly" "triphalangeal thumbs with brachyectrodactyly" @@ -92232,8 +92240,8 @@ "area hypothalamica rostralis" "preoptic hypothalamic region" "area praeoptica" - "area preoptica" "preoptic hypothalamic area" + "area preoptica" "preoptic region" "regio hypothalamica anterior" "nuclei preoptici" @@ -92897,8 +92905,8 @@ "amyotrophy-fat tissue anomaly syndrome" "amyotrophy fat tissue anomaly" "nodular erythema digital changes" - "GN" "GN" + "GN" "cranio osteoarthropathy" "ACNINV1" "acne inversa, familial" @@ -92925,8 +92933,8 @@ "beta-sarcoglycan limb-girdle muscular dystrophy" "zinc, iron permease activity" "multicopper ferroxidase iron transport mediator activity" - "OM" "OM" + "OM" "Dental problems" "Dental problems" "Abnormality of the teeth" @@ -93295,8 +93303,8 @@ "phosphoribosyl pyrophosphate synthetase activity" "phosphoribosylpyrophosphate synthase activity" "papillary cystadenoma lymphomatosum" - "papillary cystadenoma lymphomatosum (formerly)" "papillary cystadenoma lymphomatosum (formerly)" + "papillary cystadenoma lymphomatosum (formerly)" "Magnesiumchlorid" "Magnesium chloride anhydrous" "[MgCl2]" @@ -93642,8 +93650,8 @@ "speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe CREASE" "delayed speech development, facial asymmetry, strabismus, and transverse ear lobe creases" "chromosome 2q23.1 microdeletion syndrome" - "THYC" "THYC" + "THYC" "PC(42:1)" "PC 42:1" "GPCho(42:1)" @@ -96414,8 +96422,8 @@ "hemochromatosis" "haemochromatosis" "ApoA-I and apoC-III deficiency, combined" - "SCLC" "SCLC" + "SCLC" "oat cell carcinoma" "oat cell carcinoma (morphologic abnormality)" "poorly differentiated endocrine neoplasm" @@ -96924,8 +96932,8 @@ "sialidosis" "iridogoniodysgenesis syndrome" "vitamin or cofactor transport" - "SS" "SS" + "SS" "brachial plexus neuritis" "bursa" "polymorphonuclear leucocyte" @@ -97187,8 +97195,8 @@ "ocular tumour" "mandibuloacral dysplasia" "progesterone receptor binding" - "ET" "ET" + "ET" "Capillary Malformation-Arteriovenous Malformation" "meconium ileus" "plasma" @@ -97390,9 +97398,9 @@ "blood serum phosphoserine phosphatase amount" "Proximal 11p deletion syndrome" "11p11.2 deletion" + "brachycephaly, trichomegaly, and developmental delay" "Hyperuricaemia" "High blood uric acid level" - "brachycephaly, trichomegaly, and developmental delay" "blood serum dynein light chain Tctex-type 3 amount" "blood serum max-interacting protein 1 amount" "neurological disorder" @@ -97485,8 +97493,8 @@ "NEM9" "nemaline myopathy caused by mutation in KLHL41" "nemaline myopathy 9" - "blood serum chitinase-3-like protein 1 amount" "CDG with developmental anomaly" + "blood serum chitinase-3-like protein 1 amount" "green crab" "common shore crab" "non-obstructive hydrocephalus" @@ -97647,8 +97655,8 @@ "female reproductive system tumor" "gynecologic neoplasm" "H1334" - "GM17828 cell" "HR1" + "GM17828 cell" "uterine corpus soft tissue neoplasm" "mixed endometrial stromal and smooth muscle neoplasm" "Stromomyoma" @@ -97703,17 +97711,17 @@ "Diphyllobothrium disease or disorder" "Diphyllobothrium infectious disease" "Diphyllobothriasis" - "Achaearanea tepidarorum" - "Parasteatoda tepidariorum (Koch, 1841)" - "Achaearanea tepidariorum" - "common house spider" - "Theridion tepidariorum" "hemolytic-uremic syndrome without diarrhoea with B factor anomaly" "hemolytic-uremic syndrome without diarrhea with B factor anomaly" "aHUS with B factor anomaly" "hemolytic uremic syndrome, atypical, susceptibility to, type 4" "D-HUS with B factor anomaly" "atypical HUS with B factor anomaly" + "Achaearanea tepidarorum" + "Parasteatoda tepidariorum (Koch, 1841)" + "Achaearanea tepidariorum" + "common house spider" + "Theridion tepidariorum" "adenoma - prostate" "benign adenoma of prostate" "prostate gland adenoma" @@ -97800,9 +97808,9 @@ "autosomal dominant spastic paraplegia 29" "rIL-33" "4-acetamidobutanoate" - "blood cadherin-22 amount" "level of PC(16:0_16:1) in blood serum" "blood serum PC(16:0_16:1) amount" + "blood cadherin-22 amount" "C3 deficiency" "classic complement early component deficiency caused by mutation in C3" "C3 classic complement early component deficiency" @@ -98527,6 +98535,11 @@ "Carney complex variant" "Carney complex - trismus - pseudocamptodactyly syndrome" "XPB" + "ARVD14" + "arrhythmogenic right ventricular dysplasia, familial, 14" + "Arrhythmogenic Right Ventricular Cardiomyopathy 14" + "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14" + "blood autophagy-related protein 16-1 amount" "optic papilla oedema" "optic disk edema" "edema, optic disk" @@ -98563,11 +98576,6 @@ "optic disc oedema" "edema of the optic disk" "optic papillitis" - "ARVD14" - "arrhythmogenic right ventricular dysplasia, familial, 14" - "Arrhythmogenic Right Ventricular Cardiomyopathy 14" - "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14" - "blood autophagy-related protein 16-1 amount" "blood serum CCN family member 1 amount" "lipolysis" "lipid catabolism" @@ -98849,8 +98857,8 @@ "emphysema, pulmonary" "Rapid breathing" "Pascual-Castroviejo syndrome type 2" - "H157" "O'Donnell-Pappas syndrome" + "H157" "GM17831 cell" "Interleukin-18 levels" "IL-18 levels" @@ -99441,12 +99449,12 @@ "RA 1" "Ramos-RA1" "Ramos 1" - "Dinno syndrome" "sarcoma of the bone" "sarcoma of bone" "osseous sarcoma" "skeletal sarcoma" "bone sarcoma" + "Dinno syndrome" "Piussan-Lenaerts-Mathieu syndrome" "SCA5" "spinocerebellar ataxia type 5" @@ -99460,18 +99468,18 @@ "subarachnoid space of neuraxis" "intellectual disability, Mietens-Weber type" "congenital cataracts" - "Devic's syndrome" - "Neuromyelitis Optica Spectrum Disorder" - "Devic disease" - "Devic syndrome" - "Devic's disease" - "neuromyelitis optica" "MHC class II expression deficiency" "immunodeficiency by defective expression of HLA class type 2" "HLA class 2-negative SCID" "HLA class 2-negative severe combined immunodeficiency" "major histocompatibility complex class II expression deficiency" "SCID due to absent class II HLA antigens" + "Devic's syndrome" + "Neuromyelitis Optica Spectrum Disorder" + "Devic disease" + "Devic syndrome" + "Devic's disease" + "neuromyelitis optica" "nucleic acid library preparation" "nucleic acid library construction" "library construction" @@ -99539,11 +99547,11 @@ "sigmoid colon cancer" "Streptococcus pyogenes strain MGAS6180" "Streptococcus pyogenes str. MGAS6180" + "Abnormal liver function tests during pregnancy" "leukedema of mouth" "oral leukoedema" "Leukoedema, Oral" "Leukedema of mouth" - "Abnormal liver function tests during pregnancy" "blood sodium/potassium-transporting ATPase subunit beta-1 amount" "neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" "neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities" @@ -99597,8 +99605,8 @@ "lactulose mannitol test" "LacMan ratio" "SM 14:0" - "X-linked recessive" "blood partitioning defective 3 amount" + "X-linked recessive" "blood serum Sterol ester (27:1/18:1) amount" "Glanzmann thrombasthenia" "blood serum motile sperm domain-containing protein 1 amount" @@ -99855,8 +99863,8 @@ "benign neoplasm of cerebral hemispheres" "benign cerebral tumor" "telencephalon benign neoplasm" - "benign neoplasm of the cerebrum" "benign cerebral tumour" + "benign neoplasm of the cerebrum" "benign cerebral hemispheric tumour" "benign neoplasm of the cerebral hemispheres" "adenocarcinoma of the small bowel" @@ -99962,10 +99970,10 @@ "mandibular series" "blood cyclin-dependent kinase inhibitor 1 amount" "osteoglophonic dwarfism" + "blood CLIP-associating protein 1 amount" "resistant cancer" "refractory malignant neoplasm" "refractory cancer" - "blood CLIP-associating protein 1 amount" "granular cell carcinoma" "granular cell carcinoma (morphologic abnormality)" "granular cell adenocarcinoma" @@ -100161,6 +100169,7 @@ "blood probable ATP-dependent RNA helicase DDX53 amount" "blood serum hydroxyacylglutathione hydrolase-like protein amount" "blood serum inosine triphosphate pyrophosphatase amount" + "Ray-Peterson-Scott syndrome" "tumour of hypopharynx" "hypopharynx tumor" "tumor of hypopharynx" @@ -100175,7 +100184,6 @@ "neoplasm of hypopharynx" "hypopharynx neoplasm (disease)" "hypopharyngeal tumour" - "Ray-Peterson-Scott syndrome" "Ventricular Hypertrophies, Left" "Hypertrophy, Left Ventricular" "Ventricular Hypertrophy, Left" @@ -100431,8 +100439,8 @@ "benign pharynx tumour" "pharynx benign neoplasm" "benign pharynx neoplasm" - "benign pharynx tumor" "pharyngeal neoplasm benign" + "benign pharynx tumor" "serum norclozapine measurement" "bone marrow stroma" "3-amino-2-methylpropanoate" @@ -100785,12 +100793,12 @@ "Luys' body" "nucleus subthalamicus" "apoplast" - "Red palms disease" - "Lane disease" "uvula palatina" "uvula of palate" "uvula" "palatine uvula" + "Red palms disease" + "Lane disease" "AIMAH2" "primary macronodular adrenal hyperplasia" "Joubert syndrome 37" @@ -100996,14 +101004,6 @@ "blood pre-B-cell leukemia transcription factor-interacting protein 1 amount" "blood serum Sterol ester (27:1/18:0) amount" "blood serum glutathione S-transferase mu 5 amount" - "Late eruption of milk teeth" - "Late eruption of primary teeth" - "Delayed eruption of baby teeth" - "Delayed eruption of milk teeth" - "Late eruption of baby teeth" - "Delayed eruption of deciduous teeth" - "Delayed primary teeth eruption" - "blood serum IQ domain-containing protein F3 amount" "Lyme borreliosis" "Lyme neuroborreliosis" "Bannworth's syndrome" @@ -101017,6 +101017,14 @@ "Steere's disease" "neurological Lyme disease" "Borrelia" + "Late eruption of milk teeth" + "Late eruption of primary teeth" + "Delayed eruption of baby teeth" + "Delayed eruption of milk teeth" + "Late eruption of baby teeth" + "Delayed eruption of deciduous teeth" + "Delayed primary teeth eruption" + "blood serum IQ domain-containing protein F3 amount" "maturity-onset diabetes of the young (disease) caused by mutation in INS" "MODY10" "INS maturity-onset diabetes of the young (disease)" @@ -101065,9 +101073,9 @@ "inflammation of colorectum" "colorectum inflammation" "proctocolitis" + "blood serum glycogen synthase kinase-3 beta amount" "Peripheral neuropathy, Fiskerstrand type" "PHARC syndrome" - "blood serum glycogen synthase kinase-3 beta amount" "common honey bee" "Apis mellifera ligustica Spinola, 1806" "common honeybee" @@ -101290,9 +101298,9 @@ "ESLD" "end stage liver disease (decompensated liver disease)" "end stage liver disease" + "blood serum caveolin-3 amount" "Low blood sugar" "Hypoglycaemia" - "blood serum caveolin-3 amount" "blood serum myosin-binding protein C, slow-type amount" "blood serum ubiquinone biosynthesis protein COQ7 amount" "response to silicon dioxide trait" @@ -101333,10 +101341,10 @@ "myelosclerosis" "bone marrow fibrosis" "idiopathic bone marrow fibrosis" - "CIMF" "CIMF" - "AMM" + "CIMF" "AMM" + "AMM" "myelofibrosis, somatic" "myelosclerosis with myeloid metaplasia" "chronic idiopathic myelofibrosis" @@ -101346,9 +101354,9 @@ "5-amino-4-imidazole carboxamide ribosiduria" "ATIC deficiency" "blood C-type lectin domain family 11 member A amount" - "TruSeq-inDrop" "blood serum protein canopy homolog 4 amount" "blood serum enoyl-CoA hydratase, mitochondrial amount" + "TruSeq-inDrop" "cardiopulmonary arrest" "circulatory arrest" "blood serum ankyrin repeat and SOCS box protein 13 amount" @@ -101660,9 +101668,9 @@ "age at onset of bipolar disorder" "acne, adult" "blood coatomer subunit epsilon amount" - "Anomalie du développement des yeux d'origine génétique" "Hypoplastic acetabula" "Acetabular hypoplasia" + "Anomalie du développement des yeux d'origine génétique" "Penile carcinoma" "(2S)-3,4-dihydro-2H-pyrrole-2-carboxylate" "(S)-1-pyrroline-5-carboxylate" @@ -101717,11 +101725,11 @@ "tumor of the endometrium" "endometrial neoplasm" "neoplasm of the endometrium" - "blood interferon-induced protein with tetratricopeptide repeats 1 amount" "systemic tissue Mast cell disease" "systemic mastocytosis" "SMCD - systemic mast cell disease" "systemic tissue mast cell disease" + "blood interferon-induced protein with tetratricopeptide repeats 1 amount" "superficial epidermolytic ichthyosis" "SEI" "ichthyosis bullosa of Siemens" @@ -101876,6 +101884,9 @@ "growth hormone producing pituitary gland adenoma" "somatotroph adenoma" "trauma measurement" + "variant Creutzfeldt Jakob disease" + "variant Creutzfeldt-Jakob disease" + "vCJD" "congenital IGHD type III" "isolated growth hormone deficiency type III" "X-linked isolated growth hormone deficiency" @@ -101895,9 +101906,6 @@ "cortical senile cataract" "lens cortex senile cataract" "blood serum beta-defensin 135 amount" - "variant Creutzfeldt Jakob disease" - "variant Creutzfeldt-Jakob disease" - "vCJD" "Trisomy 2q23.1" "Dup(2)(q23.1)" "balantidiasis" @@ -102111,19 +102119,19 @@ "Reifenstein syndrome" "pais" "PAIS" - "lung diffuse large B-cell lymphoma" - "diffuse large B-cell lymphoma of lung" - "high grade MALT lymphoma of the lung" - "pulmonary diffuse large B-cell lymphoma" - "primary pulmonary diffuse large B-cell lymphoma" "erythrocyte GALE deficiency" "erythrocyte uridine diphosphate galactose-4-epimerase deficiency" "erythrocyte UDP-galactose-4-epimerase deficiency" "erythrocyte epimerase deficiency galactosemia" "erythrocyte GALE-D" + "lung diffuse large B-cell lymphoma" + "diffuse large B-cell lymphoma of lung" + "high grade MALT lymphoma of the lung" + "pulmonary diffuse large B-cell lymphoma" + "primary pulmonary diffuse large B-cell lymphoma" "calcifying fibrous tumor" - "CFT" "CFT" + "CFT" "calcifying fibrous pseudotumor" "adult pineal parenchymal cell tumor" "parenchymal tumor of the adult pineal gland" @@ -102180,6 +102188,12 @@ "Bacteroides nodosus (Beveridge 1941) Mraz 1963 (Approved Lists 1980)" "chondrodysplasia lethal recessive" "Maroteaux-Stanescu-Cousin syndrome" + "pharyngeal lymphatic ring" + "Waldeyer's tonsillar ring" + "anulus lymphoideus pharyngis" + "pharyngeal lymphoid ring" + "Waldeyer's ring" + "oropharyngeal lymphoid tissue" "Childhood Acute Differentiated Monocytic Leukemia (M5b)" "M5b Pediatric Acute Differentiated Monocytic Leukemia" "M5b Childhood Acute Differentiated Monocytic Leukemia" @@ -102188,14 +102202,8 @@ "Childhood Acute Monocytic Leukemia with Differentiation" "Pediatric Acute Differentiated Monocytic Leukemia" "Pediatric Acute Monocytic Leukemia with Differentiation" - "pharyngeal lymphatic ring" - "Waldeyer's tonsillar ring" - "anulus lymphoideus pharyngis" - "pharyngeal lymphoid ring" - "Waldeyer's ring" - "oropharyngeal lymphoid tissue" - "blood serum immunoglobulin heavy constant gamma 4 amount" "Blood clot in vein" + "blood serum immunoglobulin heavy constant gamma 4 amount" "blood serum Axin-2 amount" "Laterality, Behavioral" "Writings, Mirror" @@ -102408,19 +102416,19 @@ "childhood ovarian germ cell neoplasm" "childhood ovarian germ cell tumor" "ovarian germ cell tumor of childhood" + "GM17804 cell" + "deafness-hypogonadism syndrome" "Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)" "Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion" "Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3" "Aldred syndrome" - "GM17804 cell" - "deafness-hypogonadism syndrome" "Red and swollen gums" "Gingival inflammation" "Inflamed gums" - "immunodeficiency type 24" - "SCID due to CTPS1 deficiency" "USH" "Retinitis pigmentosa - deafness" + "immunodeficiency type 24" + "SCID due to CTPS1 deficiency" "autoimmune encephalitis" "dHMN5" "Distal spinal muscular atrophy type 5" @@ -102542,8 +102550,8 @@ "hematopoietic system disease or disorder" "haematopoietic system disease or disorder" "hematological system disorder" - "disease of haematopoietic system" "blood disorder" + "disease of haematopoietic system" "haematological system disorder" "hematological disease" "blood dyscrasia" @@ -102636,8 +102644,8 @@ "Infection by Pityrosporum furfur" "thrombophilia due to activated protein C resistance" "thrombophilia 2 due to activated protein C resistance" - "COLO-783" "blood Val-Leu amount" + "COLO-783" "RIN2 deficiency" "macrocephaly-alopecia-cutis laxa-scoliosis syndrome" "tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome" @@ -102957,11 +102965,11 @@ "Thumb deformity" "Abnormality of the thumb" "Abnormality of the thumbs" + "hyperplasia, thymus" "GATA2 deficiency with susceptibility to MDS/AML" "GATA2 deficiency" "dyskeratosis congenita and related telomere biology disorder" "blood serum defensin beta 136 amount" - "hyperplasia, thymus" "(2R)-2-hydroxyoctadecanoate" "(R)-2-hydroxyoctadecanoate" "AO3" @@ -103010,8 +103018,8 @@ "NLRP12 familial cold autoinflammatory syndrome" "familial cold autoinflammatory syndrome type 2" "NAPS12" - "blood interferon-induced, double-stranded RNA-activated protein kinase amount" "HBs seropositivity" + "blood interferon-induced, double-stranded RNA-activated protein kinase amount" "SMDCD" "spondylometaphyseal dysplasia with corneal dystrophy" "SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY" @@ -103154,9 +103162,9 @@ "larval pharyngeal sense organ" "X-organ of Keilin" "hpo" - "SEC61A1 deficiency" "Long-lasting pain" "Chronic pain" + "SEC61A1 deficiency" "corpora cardiaca" "blood serum 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-2 amount" "Black Populations" @@ -103246,8 +103254,8 @@ "vanadium" "Eubacterium crispatum" "gonad disease or disorder" - "gonadal disorders" "gonadal disorder" + "gonadal disorders" "disease or disorder of gonad" "disorder of gonad" "disease of gonad" @@ -103258,8 +103266,8 @@ "Redundant eyelid skin" "Extra eyelid skin" "Eyelid dermatochalasia" - "SPG16" "blood serum cadherin-4 amount" + "SPG16" "blood serum EF-hand domain-containing protein D1 amount" "blood serum visual system homeobox 1 amount" "IL-1beta" @@ -103343,8 +103351,8 @@ "phyllodes neoplasm" "cystosarcoma phyllodes" "phyllodes tumor" - "CSP" "CSP" + "CSP" "disease of the mouth" "disorder of mouth" "oral cavity disease" @@ -103403,16 +103411,16 @@ "Fragaria ananassa" "strawberry" "Fragaria virginiana x Fragaria chiloensis" - "Rec8 syndrome" - "Rec(8) syndrome" - "Recombinant chromosome 8 syndrome" - "San Luis Valley syndrome" - "Duplication 8q/deletion 8p" "craniocervical region paraganglioma" "paraganglioma of craniocervical region" "paraganglioma of the head and neck" "head and neck paraganglioma" "paraganglioma of head and neck" + "Rec8 syndrome" + "Rec(8) syndrome" + "Recombinant chromosome 8 syndrome" + "San Luis Valley syndrome" + "Duplication 8q/deletion 8p" "acampomelic campomelic dysplasia" "CDR measurement" "EA.hy926 cell" @@ -103672,9 +103680,9 @@ "ethyl N-[(2-{[(4-{N'-[(hexyloxy)carbonyl]carbamimidoyl}phenyl)amino]methyl}-1-methyl-1H-benzimidazol-5-yl)carbonyl]-N-pyridin-2-yl-beta-alaninate" "4-hydroxyquinoline-2-carboxylic acid" "Kynurenic acid" + "Global developmental delay, moderate" "triad syndrome" "female athlete triad" - "Global developmental delay, moderate" "classic or attenuated familial adenomatous polyposis" "classic or attenuated FAP" "blood serum eukaryotic peptide chain release factor GTP-binding subunit ERF3B amount" @@ -103880,6 +103888,7 @@ "acatalasemia" "blood serum Toll-like receptor 3 amount" "genetic_modification_design" + "genome tiling array" "amoxicillin/clavulanic acid-induced pemphigus vulgaris" "drug-related pemphigus" "biologic therapy-induced pemphigus" @@ -103887,7 +103896,6 @@ "pemphigus herpetiformis-type drug reaction" "drug-induced pemphigoid" "bucillamine-induced pemphigus foliaceus" - "genome tiling array" "blood serum sorting nexin-5 amount" "blood serum alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 amount" "blood serum short stature homeobox protein amount" @@ -103944,9 +103952,9 @@ "Chlamydial infection" "ganglion cervicale superius" "lipoprotein A-IV levels" + "dimethyl (2E)-but-2-enedioate" "scarlet runner bean" "Phaseolus multiflorus" - "dimethyl (2E)-but-2-enedioate" "rectal squamous carcinoma" "squamous cell carcinoma of the rectum" "rectal squamous cell carcinoma" @@ -104068,7 +104076,6 @@ "vagina rhabdomyosarcoma" "GM15036 cell" "COLO-792" - "Proud-Levine-Carpenter syndrome" "Severe Sepsis" "Septicemia, NOS" "Poisoning, Blood" @@ -104110,6 +104117,7 @@ "Nonaka Myopathy" "blood serum coiled-coil domain-containing protein 24 amount" "blood serum thiamin pyrophosphokinase 1 amount" + "Proud-Levine-Carpenter syndrome" "Hypogonadotrophic hypogonadism" "Low gonadotropins (secondary hypogonadism)" "Roberts syndrome" @@ -105289,10 +105297,10 @@ "Muscle, Soleus" "soleus" "brain activation measurement" + "Congenital major airway collapse" "(2S)-2-(6-methoxynaphthalen-2-yl)propanoic acid" "naproxen" "Naproxen" - "Congenital major airway collapse" "olfactory I" "olfactory nerve [I]" "nervus olfactorius [i]" @@ -105490,6 +105498,9 @@ "blood serum protein LSM12 amount" "ovary cystic teratoma" "blood serum transcription factor HES-3 amount" + "chronic rhinosinusitis" + "sinusitis, chronic" + "chronic sinusitis" "CEPT deficiency" "high density lipoprotein cholesterol level QTL 10" "familial hyperalphalipoproteinemia" @@ -105503,9 +105514,6 @@ "KRT14-related autosomal recessive epidermolysis bullosa simplex" "KRT14-related autosomal recessive EBS" "EBS, autosomal recessive K14" - "chronic rhinosinusitis" - "sinusitis, chronic" - "chronic sinusitis" "Perrault syndrome caused by mutation in HSD17B4" "HSD17B4 Perrault syndrome" "Perrault syndrome type 1" @@ -105671,8 +105679,8 @@ "blood CD164 sialomucin-like 2 protein amount" "Ras mediated signal transduction" "blood paralemmin-2 (human) amount" - "primary lung non-Hodgkin's lymphoma" "non-Hodgkin lymphoma of lung" + "primary lung non-Hodgkin's lymphoma" "lung non-Hodgkin's lymphoma" "lung non-Hodgkin lymphoma" "C803" @@ -105879,7 +105887,6 @@ "malignant mixed neoplasm of body of uterus" "malignant uterine corpus mixed tumor" "malignant body of uterus mixed tumor" - "Maturity-onset diabetes of the young" "blood serum N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase 4 amount" "follicular mucinosis" "hair follicle cutaneous focal mucinosis" @@ -105888,12 +105895,13 @@ "Alopecia mucinosa" "cutaneous focal mucinosis of hair follicle" "alopecia Mucinosa" + "Maturity-onset diabetes of the young" "renal oncocytoma" "renal epithelial oncocytic tumour" "kidney oncocytoma" "oncocytoma of kidney" - "kidney oncocytic neoplasm" "oncocytoma of the kidney" + "kidney oncocytic neoplasm" "renal epithelial oncocytic tumor" "renal epithelial oncocytic neoplasm" "Huntington disease-like 2" @@ -106017,9 +106025,9 @@ "nucleus accumbens whole" "colliculus of caudate nucleus" "Nucleus accumbens" - "ligament organ" "malonyl-CoA decarboxylase deficiency" "malonic aciduria" + "ligament organ" "MMIHS5" "megacystis-microcolon-intestinal hypoperistalsis syndrome 5" "blood kynurenic acid amount" @@ -106107,17 +106115,16 @@ "Familial berry aneurysm" "Familial intracranial saccular aneurysm" "Kaler-Garrity-Stern syndrome" + "Del(2)(p21) without cystinuria" "Mucoepidermoid neoplasm NOS (morphologic abnormality)" "Mucoepidermoid neoplasm (morphology)" "Mucoepidermoid neoplasm (morphologic abnormality)" "Mucoepidermoid Tumor" "Mucoepidermoid tumor [obs]" - "Del(2)(p21) without cystinuria" "homeostasis" "SPAX4" "Autosomal recessive spastic ataxia type 4" "46,XY DSD due to impaired androgen production" - "Pseudotoxoplasmosis syndrome" "tumor of uterine corpus" "body of uterus neoplasm" "body of uterus tumor" @@ -106154,6 +106161,7 @@ "corpus uteri tumor" "response to HHT" "response to omacetaxine mepesuccinate" + "Pseudotoxoplasmosis syndrome" "Jasmonic acid" "{(1R,2R)-3-oxo-2-[(2Z)-pent-2-en-1-yl]cyclopentyl}acetic acid" "(2R)-3-hydroxy-2-[(9Z,12Z)-octadeca-9,12-dienoyloxy]propyl 2-(trimethylazaniumyl)ethyl phosphate" @@ -106260,8 +106268,8 @@ "blood enoyl-[acyl-carrier-protein] reductase, mitochondrial amount" "leiomyomatosis peritonealis disseminata" "diffuse peritoneal leiomyomatosis" - "LPD" "LPD" + "LPD" "DPL" "DPL" "leiomyomatosis peritonealis disseminate" @@ -106588,12 +106596,12 @@ "muscular dystrophy, congenital, with rapid progression" "blood serum palmitoyl-protein thioesterase 1 amount" "blood serum trans-3-hydroxy-L-proline dehydratase amount" + "Septoria tritici" + "Mycosphaerella graminicola" "SDS polyacrylamide gel electrophoresis" "SDS-PAGE electrophoresis" "SDS polyacrylamide gel electrophoresis of proteins" "sodium dodecyl sulphate–polyacrylamide gel electrophoresis" - "Septoria tritici" - "Mycosphaerella graminicola" "Reactive Hyperemias" "Hyperemias, Reactive" "Engorgement, Venous" @@ -107025,8 +107033,6 @@ "multipotent stem cell" "multipotent cell" "multifate stem cell" - "iliopsoas abscess" - "Psoas muscle abscess" "Costa's acrokeratoelastoidosis" "|punctate palmoplantar keratoderma type 3" "ake" @@ -107036,6 +107042,8 @@ "punctate palmoplantar keratoderma type III" "acrokeratoelastoidosis of Costa" "punctate palmoplantar keratoderma type 3" + "iliopsoas abscess" + "Psoas muscle abscess" "2-hydroxy-2-(4-hydroxy-3-methoxyphenyl)acetate" "regio occipitalis" "central nervous system primitive neuroectodermal neoplasm of adults" @@ -107671,6 +107679,9 @@ "Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome" "Syndrome of ocular and facial anomalies, telecanthus and deafness" "Diaphragmatic hernia-exomphalos-hypertelorism syndrome" + "encephalomalacia" + "Encephalomalacia" + "Encephalomalacia (disorder)" "blood serum cyclin-dependent kinase 2-associated protein 1 amount" "isolated ventriculoarterial discordance" "congenitally uncorrected transposition of the great vessels" @@ -107678,9 +107689,6 @@ "D-TGA" "congenitally uncorrected transposition of the great arteries" "ventriculoarterial discordance with atrioventricular concordance" - "encephalomalacia" - "Encephalomalacia" - "Encephalomalacia (disorder)" "Salmonella kentucky" "glandula sudorifera apocrina" "2p21 contiguous gene deletion syndrome" @@ -107708,12 +107716,12 @@ "Klippel-Trenaunay-Weber syndrome" "blood serum leucine-rich repeat-containing protein 3 amount" "blood serum methanethiol oxidase amount" + "Maxillonasal dysostosis" + "Binder syndrome" "AML, 5q31-32 Deletion" "AML, del(5q31-q32)" "AML, del(5)(q31q32)" "AML, del(5)(q31-q32)" - "Maxillonasal dysostosis" - "Binder syndrome" "hereditary sensory and autonomic neuropathy, autosomal recessive" "PRAAS5" "proteasome-associated autoinflammatory syndrome 5" @@ -107850,11 +107858,11 @@ "autosomal dominant cerebellar ataxia caused by mutation in MME" "SMARCA2-related blepharophimosis-intellectual disability syndrome" "Abnormality of tear production" + "blood serum protein Red amount" "T-cell childhood lymphoblastic lymphoma" "T lymphoblastic lymphoma" "childhood precursor T-lymphoblastic lymphoma" "childhood T lymphoblastic lymphoma" - "blood serum protein Red amount" "greasy cutworm moth" "Agrotis ipsolon" "dark sword grass moth" @@ -107985,9 +107993,9 @@ "PDHBD" "pyruvate dehydrogenase complex E1 component subunit beta deficiency" "pyruvate dehydrogenase E1-beta deficiency" + "blood serum 6-phosphogluconolactonase amount" "intra-individual response time variability measurement" "IIRTV measurement" - "blood serum 6-phosphogluconolactonase amount" "blood serum 1-O-(1Z-eicosenyl)-sn-glycero-3-phospho-1D-myo-inositol amount" "inherited Gronblad Strandberg syndrome" "inherited PXE" @@ -108063,8 +108071,8 @@ "White eyebrow" "Pale eyebrow" "blood serum U6 snRNA-associated Sm-like protein LSm4 amount" - "DIPG" "DIPG" + "DIPG" "diffuse intrinsic pontine glioma" "benign sweat gland tumor" "sweat gland benign neoplasm" @@ -108201,6 +108209,12 @@ "2-methyl-3-hydroxybutyric aciduria" "MHBD deficiency" "HSD10 deficiency" + "Karpas 620" + "KARPAS-620" + "blood serum alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 amount" + "blood serum actin-related protein 2/3 complex subunit 3 amount" + "level of PI(18:0_18:1) in blood serum" + "blood serum PI(18:0_18:1) amount" "Trichostrongylus infectious disease" "infection by Trichostrongylus" "Infection by Trichostrongylus" @@ -108211,12 +108225,6 @@ "Infection by Trichostrongylus species" "Trichostrongylus caused disease or disorder" "Trichostrongylus disease or disorder" - "Karpas 620" - "KARPAS-620" - "blood serum alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 amount" - "blood serum actin-related protein 2/3 complex subunit 3 amount" - "level of PI(18:0_18:1) in blood serum" - "blood serum PI(18:0_18:1) amount" "coho salmon" "Oncorhynchus kisutch (Walbaum, 1792)" "Oncorhyncus kisutch" @@ -108288,10 +108296,10 @@ "iPS NIHi11" "blood serum tripeptidyl-peptidase 1 amount" "neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome" - "diastasis symphysis pubis" "hereditary vesicoureteral reflux (disease)" "familial VUR" "reactive cutaneous fibrous lesion" + "diastasis symphysis pubis" "thyroid stimulating hormone producing tumour of the pituitary" "TSH producing tumor of the pituitary gland" "TSH secreting tumour of the pituitary" @@ -108444,8 +108452,8 @@ "Diabetic renal disease (disorder)" "Nephropathy, Diabetic" "Kidney Disease, Diabetic" - "Diabetic Glomerulosclerosis" "DMII RENAL UNCNTRLD" + "Diabetic Glomerulosclerosis" "Kimmelstiel Wilson Disease" "Renal disorder associated with diabetes mellitus" "Nodular Glomerulosclerosis" @@ -108611,13 +108619,13 @@ "medulla spinalis" "blood serum syntaxin-8 amount" "SPGF46" - "body of uterus primitive neuroectodermal tumor" "malignant peripheral neuroectodermal tumor of the corpus uteri" "malignant peripheral neuroectodermal tumour of the corpus uteri" "body of uterus primitive neuroectodermal tumour" "primitive neuroectodermal tumour of body of uterus" "peripheral neuroectodermal cancer of the corpus uteri" "primitive neuroectodermal tumor of body of uterus" + "body of uterus primitive neuroectodermal tumor" "gastric (stomach) squamous cell cancer" "stomach squamous cell carcinoma" "gastric squamous cell carcinoma" @@ -108666,10 +108674,10 @@ "AML, GF-1 Gene Mutation" "AML, GATA1 gene mutation" "AML, NF-E1 Gene Mutation" - "self reported health" "cAIHA" "cAHA" "cold AIHA" + "self reported health" "blood serum sulfotransferase 2A1 amount" "generalised lipodystrophy-progeroid features-severe intellectual disability syndrome" "generalized lipodystrophy-progeroid features-severe intellectual disability syndrome" @@ -109182,9 +109190,9 @@ "spermatozoon" "spermatozoid" "L-leucyl-L-phenylalanine" + "loiasis" "blood serum elongation factor 1-gamma amount" "blood serum Ras-related protein Rab-7b amount" - "loiasis" "blood serum translational activator of cytochrome c oxidase 1 amount" "medulloblastoma with extensive nodularity" "cerebellar neuroblastoma" @@ -109268,6 +109276,8 @@ "Hypotonia, in neonatal onset" "Low muscle tone, in neonatal onset" "Hypotonia, neonatal" + "vertebral ossification, defect in, with nephrogenic rests" + "diaphanospondylodysostosis" "undifferentiated thyroid tumour" "thyroid gland undifferentiated (anaplastic) carcinoma" "Dedifferentiated thyroid gland carcinoma" @@ -109292,8 +109302,6 @@ "anaplastic thyroid carcinoma" "undifferentiated carcinoma of thyroid" "anaplastic carcinoma of the thyroid gland" - "vertebral ossification, defect in, with nephrogenic rests" - "diaphanospondylodysostosis" "Upper extremities spasticity" "Spasticity of upper limb" "Spasticity of upper extremity" @@ -110649,8 +110657,8 @@ "CHITD" "blood serum RING finger protein 141 amount" "green mud crab" - "8988 T" "PA-TU-8988T" + "8988 T" "ACC 162" "8988-T" "rapid ejaculation" @@ -110791,10 +110799,10 @@ "hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN" "hypotonia, infantile, with psychomotor retardation and characteristic facies 1" "NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies" - "SCASI" - "SCAR4" "N-(4-hydroxyphenyl)acetamide" "Paracetamol" + "SCASI" + "SCAR4" "tibial adamantinoma morphology" "tibia long bone adamantinoma" "adamantinoma of tibia" @@ -110991,14 +110999,6 @@ "Heliothis (Helicoverpa) armigera" "cotton bollworm" "Helicoverpa armigera (Hubner, 1808)" - "Thin nares" - "Small nostrils" - "Narrow nostrils" - "Thin nostrils" - "Naris, slit-like" - "Narrow nares" - "Slit-like nostrils" - "Naris, narrow" "Nongerminomatous germ cell tumor" "Nongerminomatous germ cell tumour" "Nongerminomatous germ cell tumour Including central nervous system" @@ -111009,6 +111009,14 @@ "non-dysgerminomatous germ cell tumor" "Nongerminomatous germ cell tumor Including central nervous system" "non-dysgerminomatous germ cell tumour" + "Thin nares" + "Small nostrils" + "Narrow nostrils" + "Thin nostrils" + "Naris, slit-like" + "Narrow nares" + "Slit-like nostrils" + "Naris, narrow" "partial duplication of the long arm of chromosome type 17" "partial trisomy of chromosome 17q" "partial trisomy of the long arm of chromosome 17" @@ -111057,14 +111065,14 @@ "SW-527" "SW 527" "transthyretin " - "blood ketohexokinase amount" "classical mantle cell lymphoma" "LCM" "LCM" - "MCL" "MCL" + "MCL" "mantle cell lymphoma" "mantle zone lymphoma" + "blood ketohexokinase amount" "Clayton Smith-Donnai syndrome" "Native American myopathy" "Bailey-Bloch congenital myopathy" @@ -111125,8 +111133,8 @@ "L-alloisoleucine" "blood serum tudor-interacting repair regulator protein amount" "GM17189 cell" - "kidney cancer" "kidney (renal) cancer" + "kidney cancer" "kidney (including renal cell) cancer" "renal cancer" "carcinoma of kidney" @@ -111190,8 +111198,8 @@ "EMG: neurogenic findings" "EMG: neurogenic changes" "EMG: neurogenic abnormalities" - "blood serum semaphorin-4G amount" "GATA6 related congenital heart disease with or without pancreatic agenesis or neonatal diabetes" + "blood serum semaphorin-4G amount" "Dihomo-linoleate (20:2N6)" "Osteosclerosis of bones" "Increased bone mineral density" @@ -111432,8 +111440,8 @@ "IgA memory B lymphocyte" "IgA memory B-cell" "IgA memory B-lymphocyte" - "blood serum alpha-actinin-1 amount" "Premature ejaculation" + "blood serum alpha-actinin-1 amount" "blood glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 amount" "IGHD IB" "dwarfism of Sindh" @@ -111470,6 +111478,8 @@ "isolated diffuse palmoplantar hyperkeratosis" "isolated diffuse keratosis palmoplantaris" "nonsyndromic diffuse palmoplantar keratoderma" + "meningeal layer" + "layer of meninges" "multiple glomus tumors" "hereditary glomangioma" "familial glomangioma" @@ -111478,8 +111488,6 @@ "glomuvenous malformation" "VMGLOM" "multiple glomus tumours" - "meningeal layer" - "layer of meninges" "Gastrula:50%-epiboly" "Aeromonas hydrophila infectious disease" "Aeromonas hydrophila caused disease or disorder" @@ -111495,15 +111503,15 @@ "Functional Gastrointestinal Disorder" "RECTAL & ANAL DIS NEC" "DISEASES OF THE DIGESTIVE SYSTEM" - "gastroenterological system disease" - "GIT diseases" "System Diseases, Digestive" + "GIT diseases" "System Disease, Digestive" "Digestive System Diseases" + "gastroenterological system disease" "[X]Other diseases of intestines (disorder)" "Digestive system diseases NOS" - "OTHER DISEASES OF INTESTINES AND PERITONEUM" "Gastrointestinal Disease" + "OTHER DISEASES OF INTESTINES AND PERITONEUM" "disorder of digestive system" "[X]Other diseases of intestines" "Other gallbladder disorders" @@ -111693,8 +111701,8 @@ "adult primary cholangiocellular carcinoma" "Cholangiocellular carcinoma" "cholangiocarcinoma, intrahepatic and extrahepatic bile ducts (adenocarcinoma)" - "CCA" "CCA" + "CCA" "cholangiosarcoma" "cholangiocarcinoma" "bile duct cancer" @@ -111770,10 +111778,10 @@ "8-OHdG levels" "classic medulloblastoma" "videokeratography" + "mg/g body weight" "Acute kidney failure" "Acute renal failure" "AKI" - "mg/g body weight" "MEC-2" "Cysticercosis" "pork tapeworm infection" @@ -111867,12 +111875,12 @@ "EJM6" "Kuskokwim disease" "blood serum NF-kappa-B inhibitor beta amount" - "LHCN M2" - "LHCNM2" "laryngeal tuberculosis" "larynx tuberculosis" "Tuberculosis, Laryngeal" "tuberculous laryngitis" + "LHCN M2" + "LHCNM2" "adult central nervous system embryonal carcinoma" "adult CNS embryonal carcinoma" "Central nervous system embryonal carcinoma" @@ -112027,10 +112035,10 @@ "girdle - pectoral" "Shoulder girdle" "shoulder bones" + "inherited myotonic dystrophy" "Tufting enteropathy" "IED" "Congenital familial intractable diarrhea with epithelial or epithelium abnormalities" - "inherited myotonic dystrophy" "Foetal distress" "Worster-Drought syndrome" "congenital suprabulbar paresis" @@ -112072,16 +112080,16 @@ "developmental and epileptic encephalopathy 46" "epileptic encephalopathy, early infantile, type 46" "blood T-box brain protein 1 amount" - "Xq25 duplication syndrome" "HCHWA, Piedmont type" - "blood serum beta-arrestin-1 amount" - "level of PI(18:0_20:4) in blood serum" - "blood serum PI(18:0_20:4) amount" + "Xq25 duplication syndrome" "Trombiculidae caused disease or disorder" "Trombiculidae infectious disease" "Trombiculidae disease or disorder" "Trombiculiasis" "trombiculiasis" + "blood serum beta-arrestin-1 amount" + "level of PI(18:0_20:4) in blood serum" + "blood serum PI(18:0_20:4) amount" "SUDHL-1" "SU-DHL-1" "blood serum thymocyte nuclear protein 1 amount" @@ -112268,16 +112276,16 @@ "Forsius-Eriksson type ocular albinism" "FORSIUS-Eriksson type ocular albinism" "Aland island eye disease" + "blood serum killer cell immunoglobulin-like receptor 3DL1 amount" "metastatic malignant neoplasm in the colon" "metastatic neoplasm to the colon" "metastatic tumor to the colon" "metastatic tumour to the colon" "metastatic malignant neoplasm to the colon" "oropharynx anthrax infection" - "blood serum killer cell immunoglobulin-like receptor 3DL1 amount" + "expansion sequencing" "rhizodermis" "epiblem" - "expansion sequencing" "central nervous system benign neoplasm" "DEE61" "epileptic encephalopathy, early infantile, 61" @@ -112533,6 +112541,8 @@ "PEX1 related Zellweger spectrum disorder" "thyroid hormone metabolism" "HCC-3153" + "lateral cord glia" + "distal myopathy, autosomal recessive" "borderline epithelial tumor of the ovary" "epithelial neoplasm of ovary of borderline malignancy" "borderline epithelial tumour of the ovary" @@ -112563,8 +112573,6 @@ "borderline ovarian epithelial tumor" "epithelial tumor of the ovary of borderline malignancy" "ovarian borderline malignant tumour" - "lateral cord glia" - "distal myopathy, autosomal recessive" "VDDR2" "VDDR II" "hypocalcemic vitamin D-resistant rickets" @@ -112688,8 +112696,6 @@ "Caffey disease" "cortical congenital hyperostosis" "infantile cortical hyperostosis" - "46,XY partial testicular dysgenesis" - "46,XY PGD" "isolated complex I deficiency" "isolated NADH-ubiquinone reductase deficiency" "NADH coenzyme Q reductase deficiency" @@ -112697,6 +112703,8 @@ "isolated NADH-coenzyme Q reductase deficiency" "complex 1 mitochondrial respiratory chain deficiency" "isolated NADH-CoQ reductase deficiency" + "46,XY partial testicular dysgenesis" + "46,XY PGD" "blood serum transmembrane protein 106A amount" "trisomy 17q12" "chromosome 17q12 duplication syndrome" @@ -112772,9 +112780,9 @@ "dourine" "Covering disease" "Dourine" - "blood citron Rho-interacting kinase amount" "Bacteria skin disease caused by infection" "Bacteria caused skin disease caused by infection" + "blood citron Rho-interacting kinase amount" "anterior kidney" "kidney marrow" "Frankia alni strain ACN14a" @@ -113106,13 +113114,13 @@ "Narcoleptic Syndrome" "Syndromes, Narcoleptic" "Gelineau's Syndromes" + "XPA" "Bromus inermis Leyss." "Bromopsis inermis" "Hungarian brome grass" "Bromopsis inermis (Leyss.) Holub" "awnless brome grass" "smooth brome grass" - "XPA" "blood sphingomyelin phosphodiesterase amount" "blood serum microphthalmia-associated transcription factor amount" "thiamine-responsive dysfunction syndrome" @@ -113507,15 +113515,13 @@ "Frequent broken bones" "Increased bone fragility" "Abnormal susceptibility to fractures" - "blood elongin-B amount" "nonsyndromic punctate palmoplantar keratoderma" "isolated punctate palmoplantar hyperkeratosis" "isolated punctate PPK" + "blood elongin-B amount" "GM17179 cell" "craniofacial anomalies and anterior segment dysgenesis syndrome" "phosphatidylcholine 40:5" - "blood serum arylsulfatase K amount" - "blood serum Phosphatidylinositol (18:1_18:1) amount" "HTLV-1-associated myelopathy/tropical spastic paraparesis" "Paraparesis, Tropical Spastic" "TSP" @@ -113528,11 +113534,13 @@ "HTLV-associated myelopathy" "Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis" "Tropical spastic paralysis" - "blood serum progonadoliberin-2 amount" + "blood serum arylsulfatase K amount" + "blood serum Phosphatidylinositol (18:1_18:1) amount" "blood sperm equatorial segment protein 1 amount" + "blood serum progonadoliberin-2 amount" "blood amyloid beta precursor like protein 1 amount" - "blood serum nucleolysin TIAR amount" "blood serum tether containing UBX domain for GLUT4 amount" + "blood serum nucleolysin TIAR amount" "blood serum transcription cofactor vestigial-like protein 4 amount" "cornea epidermoid carcinoma" "corneal squamous cell carcinoma" @@ -113612,13 +113620,13 @@ "blood serum mesoderm development candidate 2 amount" "anatomical entity phosphatidylinositol amount" "blood serum phospholipase A and acyltransferase 3 amount" - "Geospiza cornirostris" - "strabismus, susceptibility to" - "GM14478 cell" "Missed heart beat" "Palpitations" "Skipped heart beat" "Heart palpitations" + "Geospiza cornirostris" + "strabismus, susceptibility to" + "GM14478 cell" "Neutrophilic Metamyelocytes" "NEUTMM" "transitional cell carcinoma of ovary" @@ -113763,8 +113771,8 @@ "ALCOHOLIC INTOX CHRONIC" "Alcohol Abuse" "Abuse, Alcohol" - "CoPAN" "Neurodegeneration with brain iron accumulation due to COASY mutation" + "CoPAN" "NBIA6" "CYP7B1 congenital bile acid synthesis defect" "congenital bile acid synthesis defect caused by mutation in CYP7B1" @@ -113969,6 +113977,7 @@ "arylsulfatase B" "N-acetylgalactosamine-4-sulphatase activity" "blood serum nucleosome assembly protein 1-like 2 amount" + "Salti-Salem syndrome" "Dracunculus medinensis disease or disorder" "dracontiasis" "Dracontiasis" @@ -113983,10 +113992,9 @@ "infection by Dracunculus medinensis" "Dracunculiasis" "medinensis" - "Salti-Salem syndrome" - "blood serum glutamate receptor ionotropic, kainate 2 amount" "poikiloderma-alopecia-retrognathism-cleft palate syndrome" "PARC syndrome" + "blood serum glutamate receptor ionotropic, kainate 2 amount" "Infection due to E. rhusiopathiae" "Erysipeloid" "Erysipelothrix disease (disorder)" @@ -114151,10 +114159,9 @@ "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant" "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia" "blood serum cytoskeleton-associated protein 4 amount" - "meningeal cancer" + "malignant neoplasm of meningeal cluster" "malignant meningeal tumor" "cancer of meningeal cluster" - "malignant neoplasm of meningeal cluster" "malignant meningeal cluster neoplasm" "malignant meninges tumour" "cancer of meninges" @@ -114170,6 +114177,7 @@ "malignant meninges tumor" "cancer of the meninges" "meningeal tumors, malignant" + "meningeal cancer" "congenital dislocation of hip" "congenital hip dysplasia" "developmental dysplasia of the hip" @@ -114390,9 +114398,9 @@ "vascular tissue tumor" "tumour of vascular tissue" "tumor of vascular tissue" + "vascular system tumor" "vascular system neoplasm" "tumors, vascular" - "vascular system tumor" "vascular neoplasm" "vascular tissue neoplasm" "acheiropodia" @@ -114420,15 +114428,15 @@ "(2S)-2,3,3-trideuterio-2-(dideuterioamino)-3-(2,3,4-trideuteriophenyl)propanoic acid" "syndromic urogenital tract malformation" "syndrome associated with urogenital tract malformation" + "HCHWA, Italian type" "CFND" "Craniofrontonasal syndrome" "CFNS" "blood serum C-X-C motif chemokine 17 amount" - "HCHWA, Italian type" - "sooty mangabey" - "Cercocebus torquatus atys" "PLSIMCE" "Immature Plasma Cells" + "sooty mangabey" + "Cercocebus torquatus atys" "splenomegaly-neutropenia-rheumatoid arthritis syndrome" "Felty Syndrome" "Felty syndrome" @@ -114782,6 +114790,12 @@ "blood serum endophilin-A1 amount" "Tritrichomonas vaginalis" "Occipital atretic cephalocele - unusual facies - large feet" + "trachea carcinoma" + "carcinoma of trachea" + "carcinoma of the trachea" + "tracheal carcinoma" + "cancer of the trachea" + "Ca trachea" "autosomal dominant Charcot-Marie-Tooth disease type 2C" "TRPV4 Charcot-Marie-Tooth disease type 2" "HMSN2C" @@ -114792,12 +114806,6 @@ "hereditary motor and sensory neuropathy type IIc" "4,4'-(1,1-dioxido-3H-2,1-benzoxathiole-3,3-diyl)diphenol" "Phenol red" - "trachea carcinoma" - "carcinoma of trachea" - "carcinoma of the trachea" - "tracheal carcinoma" - "cancer of the trachea" - "Ca trachea" "contact dermatitis/eczema" "contact dermatitis" "dermatitis, venenata" @@ -114847,10 +114855,10 @@ "cancer of the extragonadal non-seminomatous germ cell" "malignant neoplasm of extragonadal non-seminomatous germ cell" "malignant tumour of extragonadal non-seminomatous germ cell" - "malignant extragonadal non-seminomatous germ cell tumour" "malignant tumor of extragonadal non-seminomatous germ cell" - "extragonadal non-seminomatous germ cell cancer" + "malignant extragonadal non-seminomatous germ cell tumour" "malignant extragonadal non-seminomatous germ cell tumor" + "extragonadal non-seminomatous germ cell cancer" "malignant extragonadal non-seminomatous germ cell neoplasm" "malignant tumour of the extragonadal non-seminomatous germ cell" "malignant tumor of the extragonadal non-seminomatous germ cell" @@ -115156,13 +115164,13 @@ "WHO grade I ependymal tumor" "subependymal astrocytoma" "GCPS" - "NCS" "renal nutcracker syndrome" "Left renal vein entrapment syndrome" "RNS" "nutcracker syndrome" "left renal vein entrapment syndrome" "Renal Nutcracker Phenomenon" + "NCS" "diglycerides" "Diglyceride" "erythrokeratodermia variabilis et progressiva 4" @@ -115262,11 +115270,11 @@ "Tuberculosis, Renal" "Tuberculosis of kidney" "tuberculosis of kidney" + "fibroblastic disease" "Tyrosine hydroxylase-deficient dopa-responsive dystonia" "Tyrosine hydroxylase deficiency" "DYT5b" "Autosomal recessive Segawa syndrome" - "fibroblastic disease" "memory B-cell" "memory B lymphocyte" "memory B-lymphocyte" @@ -115276,12 +115284,6 @@ "Humero-radial fusion" "ml/l" "blood proline-serine-threonine phosphatase-interacting protein 2 amount" - "ventral midline glia" - "midline glia" - "MGM" - "anterior midline glia" - "AMG" - "MGA" "malignant tumor of the germ cell" "malignant germ cell neoplasm" "malignant tumour of the germ cell" @@ -115293,6 +115295,12 @@ "germ cell cancer" "germ cell tumor, malignant" "malignant tumor of germ cell" + "ventral midline glia" + "midline glia" + "MGM" + "anterior midline glia" + "AMG" + "MGA" "glycogenosis type 15" "glycogen storage disease type XV" "glycogenosis type XV" @@ -115766,12 +115774,12 @@ "Job syndrome" "Autosomal dominant HIES" "Hyperimmunoglobulin E-recurrent infection syndrome" + "adenosquamous breast carcinoma" + "breast adenosquamous carcinoma" "GJA1 hypoplastic left heart syndrome" "hypoplastic left heart syndrome 1" "hypoplastic left heart syndrome type 1" "hypoplastic left heart syndrome caused by mutation in GJA1" - "adenosquamous breast carcinoma" - "breast adenosquamous carcinoma" "acquired coagulation protein disease" "acquired coagulation factor deficiency" "Cerebellar ataxia - intellectual disability - optic atrophy - skin abnormalities" @@ -116414,6 +116422,7 @@ "malignant middle Ear tumor" "malignant middle Ear tumour" "malignant tumor of the middle Ear" + "Scleroderma Polymyositis Overlap Syndrome" "endodermal sinus tumor of the ovary" "ovary yolk sac tumor" "endodermal sinus neoplasm of ovary" @@ -116447,7 +116456,6 @@ "bone of extremity" "free limb bone" "bone of limb" - "Scleroderma Polymyositis Overlap Syndrome" "Type 1 Diabetes Mellitus" "DMI UNSPF UNCNTRLD" "DIABETES MELLITUS TYPE 01" @@ -116521,8 +116529,8 @@ "respiratory tract aspiration" "Melampsora laricis-populina" "Melampsora laricipopulina" - "mesenchymal chondrosarcoma" "blood serum catechol O-methyltransferase amount" + "mesenchymal chondrosarcoma" "blood serum pregnancy-specific beta-1-glycoprotein 8 amount" "Warburg micro syndrome" "WARBM" @@ -116665,8 +116673,6 @@ "Fusion of teeth" "Joined teeth" "Fused teeth" - "Total Plasma Cells" - "PLSTCE" "tumor of small intestine" "tumor of small bowel" "small bowel tumor" @@ -116687,6 +116693,8 @@ "small intestine neoplasm (disease)" "tumour of the small bowel" "small bowel neoplasm" + "Total Plasma Cells" + "PLSTCE" "High blood glucose" "hyperglycaemia" "High blood sugar" @@ -117312,11 +117320,11 @@ "Streptococcus sp. (group A)" "group A streptococcus" "intellectual disability-loss of expressive language-facial dysmorphism syndrome" + "SOFM" "tyrosinemia type III" "tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency" "tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency" "tyrosinemia due to HPD deficiency" - "SOFM" "PEPCK deficiency" "phosphoenolpyruvate carboxykinase (GTP) deficiency" "peripheral motor neuropathy" @@ -117324,8 +117332,8 @@ "Chromosome 9 Ring" "Ring chromosome type 9" "Respiratory Muscles" - "blood serum INO80 complex subunit E amount" "Alkuraya-Kucinskas syndrome" + "blood serum INO80 complex subunit E amount" "Wilms' tumour" "Wilms' tumor" "Wilms tumor" @@ -117370,13 +117378,13 @@ "AML, Monosomy 5" "Müllerian duct failure" "Aplasia of the Müllerian ducts" - "LPE 18:0" "adult Bartter syndrome" "BARTS3" "classic Bartter syndrome" "Bartter syndrome type 3" "Bartter syndrome type III" "Bartter disease type 3" + "LPE 18:0" "blood serum epididymal secretory protein E3-beta amount" "susceptibility to varicella zoster virus infection measurement" "tibial longitudinal meromelia, bilateral" @@ -117707,11 +117715,11 @@ "trophoblastic neoplasm" "tumour of trophoblast" "trophoblastic tumour (qualifier value)" - "trophoblast tumour" "trophoblastic tumour" + "trophoblast tumour" "neoplasm of trophoblast" - "tumor of trophoblast" "trophoblastic neoplasms" + "tumor of trophoblast" "trophoblastic tumor (qualifier value)" "trophoblast neoplasm" "trophoblastic neoplasm NOS (morphologic abnormality)" @@ -117721,7 +117729,6 @@ "trophoblast tumor" "3-(10,11-dihydro-5H-dibenzo[a,d][7]annulen-5-ylidene)-N,N-dimethylpropan-1-amine" "Amitriptyline" - "response to oxygen therapy" "OVARY NEOPL" "Ovary Neoplasm" "ovarian tumour" @@ -117749,6 +117756,7 @@ "Ovarian Neoplasms" "ovary neoplasm" "Elevated C-reactive protein level" + "response to oxygen therapy" "(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10,22-tetraene-3,25-diol" "25-hydroxyvitamin D2" "intellectual developmental disorder, autosomal recessive 40" @@ -117838,6 +117846,7 @@ "keratoderma" "keratosis" "blood serum methyltransferase-like protein 11A amount" + "phosphatidylcholine 42:1" "CASP8" "blood serum protein S100-A8 amount" "Precursor Plasma Cells" @@ -117846,7 +117855,6 @@ "non-infectious iridocyclitis" "Bacteroides gingivalis" "ABOLM" - "phosphatidylcholine 42:1" "blood serum interferon alpha-1/13 amount" "L-prolyl-(4R)-4-hydroxy-L-proline" "GM17247 cell" @@ -117904,9 +117912,9 @@ "MYH9-related syndrome" "MYH9-RD" "blood serum chordin amount" - "GRO:0005131" "blood serum DNA-directed RNA polymerase III subunit RPC9 amount" "blood serum intestinal alkaline phosphatase amount" + "GRO:0005131" "Thlaspi caerulescens" "chronic eustachian tube salpingitis" "otosalpingitis, chronic" @@ -118747,11 +118755,11 @@ "Macrogyria" "Cerebral pachygyria" "LGMD1D" + "primary diffuse large B-cell gastric lymphoma" "primary diffuse large B-cell lymphoma of the stomach" "primary gastric diffuse large B-cell lymphoma" "gastric diffuse large B-cell lymphoma" "primary diffuse large B-cell lymphoma of stomach" - "primary diffuse large B-cell gastric lymphoma" "blood methylmalonyl-CoA mutase, mitochondrial amount" "Meige syndrome" "Meige dystonia" @@ -119004,23 +119012,23 @@ "secondary polycythemia" "meningitis caused by human poliovirus" "PLPM" + "blood serum X antigen family member 2 amount" "Vigna unguiculata subsp. unguiculata Unguiculata Group" "Vigna unguiculata subsp. unguiculata (Unguiculata Group)" "Vigna sinensis" "Vigna unguiculata Unguiculata Group" "cowpea" - "blood serum X antigen family member 2 amount" - "Swelling of ureter" - "Dilated ureter" - "Wide ureter" - "Ureteral dilatation" - "Megaureter" "primary gallbladder lymphoma" "lymphoma of gallbladder" "lymphoma of the gallbladder" "lymphoma of gall bladder" "gall bladder lymphoma" "gallbladder lymphoma" + "Swelling of ureter" + "Dilated ureter" + "Wide ureter" + "Ureteral dilatation" + "Megaureter" "hyperplastic" "hyperplasia" "Hyperplastic" @@ -119098,8 +119106,8 @@ "disease or disorder of testis" "disorder of testis" "blood serum neurogenin-3 amount" - "N(1),N(1)'-(2,5-diaminocyclohexa-2,5-diene-1,4-diylidene)dibenzene-1,4-diamine" "blood serum BTB/POZ domain-containing protein KCTD1 amount" + "N(1),N(1)'-(2,5-diaminocyclohexa-2,5-diene-1,4-diylidene)dibenzene-1,4-diamine" "Tsukahara syndrome" "Giuffré-Tsukahara syndrome" "Hemifacial hyperplasia - strabismus" @@ -119181,8 +119189,8 @@ "neuroectodermal tumour" "primitive neuroectodermal neoplasm" "neuroectodermal tumor" - "PNET" "PNET" + "PNET" "CMT2F" "blood serum peptidyl-glycine alpha-amidating monooxygenase amount" "nephronophthisis 11" @@ -119318,11 +119326,11 @@ "Diaphyseal bowing of long bones" "Bowing of long bones" "Bowed long bones" - "blepharophimosis types 1 and 2 due to a point mutation" "vaginal enterocele" + "blepharophimosis types 1 and 2 due to a point mutation" "blood serum endothelial lipase amount" - "goiter, multinodular" "blood serum EP300-interacting inhibitor of differentiation 3 amount" + "goiter, multinodular" "laryngo-tracheo-esophageal diastema" "laryngo-tracheo-esophageal cleft" "Larnygeotracheoesophageal cleft" @@ -119524,8 +119532,8 @@ "Global run-on sequencing" "Genomic run-on sequencing" "guttate psoriasis" - "CSF clusterin measurement" "GM17801 cell" + "CSF clusterin measurement" "blood serum high mobility group protein B3 amount" "disease or disorder of ventral horn of spinal cord" "disease of ventral horn of spinal cord" @@ -119724,8 +119732,8 @@ "limb-girdle muscular dystrophy due to FKRP deficiency" "LGMD-FKRP related" "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP" - "blood ribonuclease H2 subunit A amount" "blood serum protein FAM221A amount" + "blood ribonuclease H2 subunit A amount" "GM17797 cell" "software_variation_design" "Eastern white pine" @@ -119849,12 +119857,12 @@ "Distal deletion 10q" "proteasome-associated autoinflammatory syndrome 3 and digenic forms" "proteasome-associated autoinflammatory syndrome 3" - "blood serum 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial amount" - "Medial Collateral Ligament of the Knee" "hamartoma of stomach" "stomach hamartoma (disease)" "hamartoma of the stomach" "gastric hamartomatous polyp" + "blood serum 2-methoxy-6-polyprenyl-1,4-benzoquinol methylase, mitochondrial amount" + "Medial Collateral Ligament of the Knee" "JIA" "Juvenile rheumatoid arthritis (disorder)" "Juvenile idiopathic arthritis" @@ -120094,8 +120102,8 @@ "kidney leiomyoma" "renal leiomyoma" "blood serum pro-neuregulin-2, membrane-bound isoform amount" - "blood scavenger receptor cysteine-rich domain-containing group B protein amount" "blood serum MHC class I histocompatibility antigen C alpha chain amount" + "blood scavenger receptor cysteine-rich domain-containing group B protein amount" "brain pediatric meningioma" "pediatric meningioma of the brain" "brain paediatric meningioma" @@ -120513,9 +120521,9 @@ "Psoriasis and similar disorders" "Psoriasis and similar disorders (navigational concept)" "PUSTULAR PSORIASIS OF PALMS SOLES" - "psoriasis" "Pustulosis of Palms and Soles" "Other psoriasis and similar disorders (disorder)" + "psoriasis" "OTHER PSORIASIS" "Other psoriasis and similar disorders" "PITYRIASIS NEC & NOS" @@ -120635,8 +120643,8 @@ "carcinoma of liver cells" "hepatocellular adenocarcinoma" "liver cell carcinoma" - "HCC" "HCC" + "HCC" "primary carcinoma of liver cells" "carcinoma of the liver cells" "hepatocellular carcinoma, somatic" @@ -120990,7 +120998,6 @@ "Decreased cervical height" "Decreased cervical length" "Short neck" - "blood serum (E)-isoheptadec-2-enoyl-CoA amount" "follicular adenoma of thyroid" "thyroid gland follicular adenoma" "thyroid adenoma (disease)" @@ -121010,6 +121017,7 @@ "thyroid adenoma" "thyroid follicle adenoma" "megalencephaly, autosomal dominant" + "blood serum (E)-isoheptadec-2-enoyl-CoA amount" "GM17296 cell" "blood serum synapsin-3 amount" "Ostravik-Lindemann-Solberg syndrome" @@ -121387,8 +121395,8 @@ "syringocystadenoma papilliferum" "papillary syringadenoma (morphologic abnormality)" "naevus syringocystadenomatosus papilliferus" - "SCAP" "SCAP" + "SCAP" "fistulous vegetative verrucous hydradenoma" "papillary Syringadenoma (syringocystadenoma papilliferum)" "papillary syringocystadenoma" @@ -121714,6 +121722,7 @@ "blood serum adhesion G protein-coupled receptor B3 amount" "leg dermatosis" "blood serum gastric inhibitory polypeptide amount" + "blood serum procollagen C-endopeptidase enhancer 2 amount" "hemangioma of intracranial structures" "intracranial hemangioma" "intracranial angioma" @@ -121722,7 +121731,6 @@ "angioma of the intracranial structure" "angioma of intracranial structure" "hemangioma of brain" - "blood serum procollagen C-endopeptidase enhancer 2 amount" "mucinous cystadenofibroma" "blood serum BTB/POZ domain-containing protein KCTD3 amount" "CHANDS" @@ -121776,10 +121784,10 @@ "indole-3-carboxylic acid" "infection by Pasteurella multocida" "blood serum lithostathine-1-beta amount" - "Passwell-Goodman-Siprkowski syndrome" "10x 5' v3 sequencing" "10X 5' v3 sequencing" "10X 5' v3" + "Passwell-Goodman-Siprkowski syndrome" "BTHS" "3-Methylglutaconicaciduria type 2" "MGA type 2" @@ -121930,8 +121938,8 @@ "juvenile xanthogranuloma" "multiple eruptive juvenile xanthogranuloma" "Naevoxanthoendothelioma" - "JXG" "JXG" + "JXG" "LyH49H-positive" "129 Sv/Ev" "129/SvEv" @@ -121951,9 +121959,9 @@ "lung cancer, protection against, autosomal dominant, somatic mutation" "malignant tumor of lung" "malignant tumour of lung" - "lung cancer, susceptibility to, autosomal dominant, somatic mutation" - "malignant lung tumor" "lung cancer" + "malignant lung tumor" + "lung cancer, susceptibility to, autosomal dominant, somatic mutation" "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation" "cancer of lung" "malignant neoplasm of the lung" @@ -122102,8 +122110,8 @@ "Hodgkins lymphoma" "Hodgkin's sarcoma" "Hodgkin's Disease" - "HL" "HL" + "HL" "(4S)-6-chloro-4-(cyclopropylethynyl)-4-(trifluoromethyl)-1,4-dihydro-2H-3,1-benzoxazin-2-one" "Efavirenz" "Gemfibrozil" @@ -122407,15 +122415,15 @@ "EDSCLL2" "blood serum mitotic checkpoint serine/threonine-protein kinase BUB1 amount" "prostate cancer stage" - "Visna" - "Ovine encephalomyelitis" - "blood serum carnosine N-methyltransferase amount" "Idiopathic ventricular fibrillation, Brugada type" "Bangungut" "SUNDS" "Sudden unexplained nocturnal death syndrome" "Pokkuri death syndrome" "Dream disease" + "Visna" + "Ovine encephalomyelitis" + "blood serum carnosine N-methyltransferase amount" "blood sarcolemmal membrane-associated protein amount" "blood serum thymidine kinase 2, mitochondrial amount" "SPG55" @@ -122726,10 +122734,10 @@ "GILLESPIE syndrome" "aniridia, cerebellar ataxia, and intellectual disability" "aniridia, cerebellar ataxia, and mental retardation" - "neuroblastoma, susceptibility to, 1, autosomal dominant, somatic mutation" "adult hemangiopericytoma, malignant" "hemangiopericytoma, malignant of adults" "malignant adult hemangiopericytoma" + "neuroblastoma, susceptibility to, 1, autosomal dominant, somatic mutation" "GM17201 cell" "radiation-induced abnormalities" "radiation-induced disorder" @@ -123051,6 +123059,7 @@ "multiple hamartoma syndrome" "odontoma, ameloblastic, malignant" "ameloblastic carcinoma" + "SP-D measurement" "bile duct colloid carcinoma" "mucinous adenocarcinoma of the bile duct" "colloid adenocarcinoma of extrahepatic bile duct" @@ -123081,7 +123090,6 @@ "colloid carcinoma of the bile duct" "colloidal carcinoma of the bile duct" "colloid carcinoma of bile duct" - "SP-D measurement" "Thomas type SCA3" "blood serum cadherin-related family member 3 amount" "Enterococcus flavescens" @@ -123435,10 +123443,10 @@ "malignant mandible neoplasm" "blood serum ubiquitin-conjugating enzyme E2 Q2 amount" "PCCA" + "NK.49D-.Sp" "Fv1^b" "FVB/N" "Friend Virus B" - "NK.49D-.Sp" "telencephalic ventricle" "lateral ventricle" "lateral ventricles" @@ -123502,8 +123510,8 @@ "congenital hematological system disease" "congenital hematological disorder" "blood serum protein MENT amount" - "SPG28" "blood serum serine/threonine-protein kinase tousled-like 1 amount" + "SPG28" "vascular insufficiency" "Abnormality of the mastoid" "Abnormality of mastoid process of temporal bone" @@ -123680,6 +123688,13 @@ "retinal arterial tortuosity" "mixed oligodendroglial and astrocytic tumor" "mixed oligodendroglial and astrocytic tumour" + "AOSD" + "Still's Disease, Adult-Onset" + "Wissler-Fanconi syndrome" + "adult-onset Still's disease" + "adult onset Still's disease" + "Adult-Onset Still's Disease" + "adult-onset Still disease" "autosomal recessive mental retardation" "autosomal recessive non-syndromic intellectual disability" "autosomal recessive non-syndromic mental retardation" @@ -123689,13 +123704,6 @@ "mental retardation, autosomal recessive" "autosomal recessive intellectual disability" "intellectual disability, autosomal recessive" - "AOSD" - "Still's Disease, Adult-Onset" - "Wissler-Fanconi syndrome" - "adult-onset Still's disease" - "adult onset Still's disease" - "Adult-Onset Still's Disease" - "adult-onset Still disease" "blood serum WAP four-disulfide core domain protein 3 amount" "Sveinsson chorioretinal atrophy" "SCRA" @@ -124229,9 +124237,9 @@ "subependymal giant cell astrocytic tumor" "subependymal giant cell astrocytoma (morphologic abnormality)" "subependymal giant cell astrocytic tumour" - "2-oxopentanedioate" "high content screening" "HCS" + "2-oxopentanedioate" "eccrine skin tumour" "eccrine tumor of skin" "eccrine tumor of the skin" @@ -124555,8 +124563,8 @@ "cerebral sarcoma" "Creatine" "N-[amino(imino)methyl]-N-methylglycine" - "Chang-Davidson-Carlson syndrome" "central hearing loss" + "Chang-Davidson-Carlson syndrome" "distal monosomy 7q11.23" "chromosome 7q11.23 deletion syndrome, distal, 1.2mb" "distal del(7)(q11.23)" @@ -125122,8 +125130,8 @@ "intraductal carcinoma" "non-invasive ductal breast adenocarcinoma" "non-infiltrating intraductal adenocarcinoma" - "DCIS" "DCIS" + "DCIS" "mammary duct carcinoma in situ" "non-invasive ductal adenocarcinoma of breast" "non-invasive intraductal breast adenocarcinoma" @@ -125168,6 +125176,7 @@ "SPIROCHETE INFECT" "spirochaetales infections" "blood serum leucine-rich repeat and transmembrane domain-containing protein 1 amount" + "blood serum stathmin amount" "right lower lobe of lung" "right lower lobe" "right caudal lobe of lung" @@ -125175,7 +125184,6 @@ "inferior lobe of right lung" "lower lobe of right lung" "lobus inferior pulmonis dextri" - "blood serum stathmin amount" "tuberculosis of meninges and central nervous system" "Tuberculosis of meninges and central nervous system (disorder)" "intracranial tuberculoma" @@ -125463,13 +125471,13 @@ "blood serum 2-phosphoxylose phosphatase 1 amount" "response to sulfasalazine trait" "blood serum homeobox protein MOX-1 amount" + "embryonic anatomical structure morphogenesis" "shaft of femur" "femoral shaft" "femoral diaphysis" "corpus femoris" "body of femur" "blood myomesin-1 amount" - "embryonic anatomical structure morphogenesis" "myopia, pathological" "myopia (pathological)" "progressive myopia" @@ -125588,9 +125596,9 @@ "Insulin-resistant diabetes mellitus AND acanthosis nigricans" "Type 2 diabetes mellitus with acanthosis nigricans (disorder)" "Insulin Receptor Defect with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans" + "blood serum secretory carrier-associated membrane protein 5 amount" "Gastric Outlet Obstruction" "gastric outflow obstruction" - "blood serum secretory carrier-associated membrane protein 5 amount" "blood serum heat shock protein HSP 90-alpha amount" "blood serum proteasome subunit beta type-3 amount" "cytoplasm component" @@ -125712,11 +125720,11 @@ "short rib-polydactyly syndrome type 2" "neurodegeneration with brain iron accumulation 8" "CMT2L" + "PWS-like" "spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type" "SEMD, MATN3-related" "SEMD, matrilin-3 type" "blood tetraspanin-7 amount" - "PWS-like" "neutropenia, Severe congenital, 7, autosomal recessive" "blood frizzled-8 amount" "neuromast infraorbital" @@ -126074,9 +126082,9 @@ "dermal toxicity" "dermatologic toxicity" "skin toxicity" + "Rotavirus infectious disease" "Rotavirus infection" "Rotavirus disease or disorder" - "Rotavirus infectious disease" "Rotavirus caused disease or disorder" "HCC-2218" "HCC-44" @@ -126190,8 +126198,8 @@ "brain sarcoma" "primary brain sarcoma" "sarcoma of the brain" - "skin sensitivity to sun" "SCC131" + "skin sensitivity to sun" "Foveal hypoplasia" "pituitary gland non-functioning endocrine neoplasm" "non-functioning pituitary gland tumour" @@ -126263,14 +126271,14 @@ "CDG syndrome type Ih" "ALG8-CDG" "blood serum CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 amount" - "Adherent earlobe" - "Attached earlobe" "Marburg virus disease" "Marburg Virus Disease" "Marburg disease" "MHF" "Marburg hemorrhagic fever" "Green monkey disease" + "Adherent earlobe" + "Attached earlobe" "DSP striate palmoplantar keratoderma" "keratosis palmoplantaris striata type 2" "striate palmoplantar keratoderma caused by mutation in DSP" @@ -126280,10 +126288,10 @@ "F442A cell" "F442A" "blood serum PRKC apoptosis WT1 regulator protein amount" + "EBS-migr" "Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency" "Mitochondrial encephalo-cardio-myopathy due to mitochondrial respiratory chain complex V deficiency" "Mitochondrial encephalo-cardio-myopathy due to ATP synthase deficiency" - "EBS-migr" "maxillary sinus inverted papilloma" "inverted papilloma of maxillary sinus" "inverted papilloma of the maxillary sinus" @@ -126305,10 +126313,10 @@ "blue peafowl" "Indian peafowl" "blood serum ubiquitin carboxyl-terminal hydrolase 8 amount" + "GM17793 cell" "Sandrow syndrome" "mirror hands and feets-nasal defects syndrome" "laurin-Sandrow syndrome" - "GM17793 cell" "(2S)-2-acetamidobutanedioic acid" "ZikV infection" "Zika virus disease or disorder" @@ -126736,13 +126744,13 @@ "Sulfhemoglobinemia" "Sulfhemoglobinemia (disorder)" "sulfhemoglobinemia" + "MIH" "HYPONYCHIA congenita" "isolated congenital anonychia caused by mutation in RSPO4" "nonsyndromic congenital nail disorder 4" "nonsyndromic congenital nail disorder type 4" "RSPO4 isolated congenital anonychia" "nail disorder, nonsyndromic congenital, type 4" - "MIH" "hereditary reflex epilepsy" "thymus lipoma" "Thymolipomatous hamartoma" @@ -126881,7 +126889,6 @@ "CHDWR" "spinocerebellar ataxia type 13" "SCA13" - "blood serum glutathione-specific gamma-glutamylcyclotransferase 2 amount" "gastroparesis (disease)" "gastroparesis" "gastric atonia (disorder)" @@ -126891,6 +126898,7 @@ "Gastroparesis" "Gastroparalysis" "Gastroparesis syndrome (disorder) [Ambiguous]" + "blood serum glutathione-specific gamma-glutamylcyclotransferase 2 amount" "CLARITHROMYCIN" "O(6)-methylerythromycin" "Clarithromycin" @@ -126937,10 +126945,10 @@ "uterine cervix adenoid cystic carcinoma" "adenoid cystic carcinoma of cervix uteri" "7alpha-hydroxy-3-oxocholest-4-en-26-oic acid" + "SMD-CRD" "thyroid" "phantom bone disease" "essential osteolysis" - "SMD-CRD" "tarp syndrome" "TARP syndrome, X-linked recessive" "Pierre Robin syndrome-congenital heart defect-talipes syndrome" @@ -127102,8 +127110,8 @@ "Progressive sensorineural deafness - hypertrophic cardiomyopathy" "Progressive neurosensory deafness - hypertrophic cardiomyopathy" "Progressive neurosensory hearing loss - hypertrophic cardiomyopathy" - "infective arthritis" "blood serum SCAN domain-containing protein 1 amount" + "infective arthritis" "Brodmann area 38, temporopolar" "temporopolar area 38 (H)" "anterior temporal lobe" @@ -127188,9 +127196,9 @@ "pituitary gland disease" "pituitary gland disease or disorder" "disease or disorder of pituitary gland" - "Genetic anterior horn cell disease" "initial segment of nerve" "radix nervi" + "Genetic anterior horn cell disease" "hereditary spastic paraplegia caused by mutation in SPAST" "hereditary spastic paraplegia 4" "autosomal dominant spastic paraplegia type 4" @@ -127216,8 +127224,8 @@ "chondrosarcoma (disease) of periosteum" "periosteum chondrosarcoma (disease)" "juxtacortical chondrosarcoma" - "CMT2A1" "blood serum microtubule nucleation factor SSNA1 amount" + "CMT2A1" "craniotelencephalic dysplasia" "blood serum motor neuron and pancreas homeobox protein 1 amount" "Charcot-Marie-Tooth neuropathy type 2T" @@ -127328,11 +127336,11 @@ "sarcomatoid transitional cell carcinoma" "Occipital region" "Occipital cortex" + "ethmoid sinus adenoid cystic carcinoma" + "adenoid cystic carcinoma of the ethmoid sinus" "Liddle syndrome" "pseudoaldosteronism" "Liddle's syndrome" - "ethmoid sinus adenoid cystic carcinoma" - "adenoid cystic carcinoma of the ethmoid sinus" "2-(N(omega)-L-arginino)butanedioic acid" "vitamin B9 intake measurement" "blood serum peroxisomal coenzyme A diphosphatase NUDT7 amount" @@ -127364,10 +127372,10 @@ "paraoxonase enzyme measurement" "oculomotor apraxia, congenital, Cogan-type" "oculomotor apraxia, Cogan type" - "pycnodysostosis" - "Pyknodysostosis" "noncardia gastric carcinoma" "non-cardia gastric carcinoma" + "pycnodysostosis" + "Pyknodysostosis" "periodic limb movement disorder" "nocturnal myoclonus" "Nocturnal Myoclonus Syndrome" @@ -127761,11 +127769,11 @@ "Familial Hibernian fever" "TRAPS syndrome" "HCC-1954" - "Novak syndrome" "blood serum coiled-coil domain-containing protein 69 amount" "ISS" "Transverse earlobe creases" "Earlobe crease" + "Novak syndrome" "Streptococcus sanguis" "knee region" "blood serum homeobox protein OTX1 amount" @@ -127922,13 +127930,13 @@ "epidermolysis bullosa dystrophica, autosomal recessive, modifier of" "RDEB generalisata gravis" "blood serum phospholipase DDHD2 amount" - "cholecystolithiasis" - "Cholecystolithiasis" "mastocytosis-short stature-hearing loss syndrome" "syndromic microphthalmia type 3" "anophthalmia/microphthalmia-esophageal atresia syndrome" "MCOPS3" "microphthalmia, syndromic type 3" + "cholecystolithiasis" + "Cholecystolithiasis" "ceroid lipofuscinosis, neuronal, type 5" "neuronal ceroid lipofuscinosis caused by mutation in CLN5" "CLN5 neuronal ceroid lipofuscinosis" @@ -128019,8 +128027,8 @@ "gastric small cell carcinoma" "small cell carcinoma of stomach" "gastric small cell neuroendocrine carcinoma" - "Oat cell carcinoma of the stomach" "gastric Oat cell carcinoma" + "Oat cell carcinoma of the stomach" "Oat cell carcinoma of stomach" "Infectious arthritis" "pyogenic arthritis" @@ -128089,11 +128097,11 @@ "HMC18" "alcohol withdrawal syndrome" "alcohol withdrawal" - "macroblepharon-ectropion-hypertelorism-macrostomia syndrome" "mirror movements type 3" "mirror movements 3" "familial congenital mirror movements caused by mutation in DNAL4" "DNAL4 familial congenital mirror movements" + "macroblepharon-ectropion-hypertelorism-macrostomia syndrome" "blood serum ubiquilin-3 amount" "ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation" "ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and intellectual disability" @@ -128459,8 +128467,8 @@ "gastroschisis" "laparoschisis" "Gastroschisis (disorder)" - "disease or disorder of stomach" "disorder of stomach" + "disease or disorder of stomach" "stomach disorder" "stomach disease or disorder" "gastropathy" @@ -128516,8 +128524,8 @@ "childhood leukaemia (disease)" "paediatric leukaemia (disease)" "childhood leukemia" - "LPC 18:1" "(5alpha)-17-oxoandrostan-3alpha-yl hydrogen sulfate" + "LPC 18:1" "oculodentodigital dysplasia" "oculo-dento-digital dysplasia" "Meyer-Schwickerath syndrome" @@ -128704,8 +128712,6 @@ "blood calmegin amount" "Curatolo-Cilio-Pessagno syndrome" "visceral myopathy-familial external ophthalmoplegia syndrome" - "hepatitis B virus-related hepatocellular carcinoma" - "hepatitis B virus related hepatocellular carcinoma" "Peritonsillar Abscess" "Peritonsillar abscess" "peritonsillar abscess" @@ -128716,6 +128722,8 @@ "telencephalon septum" "septum (NN)" "septal area" + "hepatitis B virus-related hepatocellular carcinoma" + "hepatitis B virus related hepatocellular carcinoma" "Schinzel Giedion Syndrome" "Schinzel-Giedion syndrome" "SGS" @@ -128789,9 +128797,9 @@ "megaspora" "blood serine/threonine-protein kinase 4 amount" "blood serum MOB kinase activator 1B amount" + "Thong-Douglas-Ferrante syndrome" "pediatric lymphoma" "childhood lymphoma" - "Thong-Douglas-Ferrante syndrome" "pancreatic mixed squamous and adenocarcinoma" "pancreatic adenosquamous carcinoma" "pancreas adenosquamous carcinoma" @@ -128875,6 +128883,8 @@ "myopia 28, autosomal recessive" "MYP28" "paranasal sinus Schneiderian papilloma" + "MACS" + "MAC sorting" "kidney failure, acute" "acute kidney injury" "ARF" @@ -128882,8 +128892,6 @@ "AKI" "GM17240 cell" "blood sorting nexin-9 amount" - "MACS" - "MAC sorting" "blood serum variable charge X-linked protein 1 amount" "heart layer inflammation" "carditis" @@ -129087,6 +129095,11 @@ "grade III meningioma" "WHO grade III meningioma" "grade 3 meningioma" + "BBGD" + "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)" + "thiamine-responsive encephalopathy" + "biotin-thiamine-responsive basal ganglia disease" + "BTBGD" "chondroblastoma" "chondroblastoma (disease)" "chondroblastoma of bone" @@ -129102,11 +129115,6 @@ "malignant anus neoplasm" "malignant tumor of the anus" "malignant tumour of the anus" - "BBGD" - "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)" - "thiamine-responsive encephalopathy" - "biotin-thiamine-responsive basal ganglia disease" - "BTBGD" "USH2" "Usher syndrome type 2" "AG08048 cell" @@ -129637,11 +129645,11 @@ "lacrimal apparatus disorder" "Twenty-nail dystrophy" "Onychodystrophy totalis" + "blood serum zona pellucida sperm-binding protein 4 amount" "subdural abscess" "subdural empyema" "Empyema, Subdural" "Subdural abscess (disorder)" - "blood serum zona pellucida sperm-binding protein 4 amount" "LGMD2N" "MDDGC2" "LGMD-POMT2 related" @@ -129736,10 +129744,6 @@ "clear cell adenocarcinoma of uterine cervix" "clear cell adenocarcinoma of the uterine cervix" "cervix uteri clear cell adenocarcinoma" - "monostotic fibrous dysplasia (disease)" - "monostotic fibrous dysplasia" - "monostotic fibrous dysplasia of bone" - "Jaffe-Lichtenstein disease" "Tinea disease or disorder" "tinea infection" "Tinea caused disease or disorder" @@ -129749,6 +129753,10 @@ "Tinea" "Tinea infectious disease" "Dermatophytosis-tinea/ringworm" + "monostotic fibrous dysplasia (disease)" + "monostotic fibrous dysplasia" + "monostotic fibrous dysplasia of bone" + "Jaffe-Lichtenstein disease" "blood serum translocon-associated protein subunit alpha amount" "lethal congenital contracture syndrome 1" "lethal congenital contracture syndrome caused by mutation in GLE1" @@ -129902,9 +129910,9 @@ "Acanthamoeba keratitis (disorder)" "rostral division of the internal carotid artery" "CrDI" + "1-(5-O-phosphono-D-ribofuranosyl)-1H-imidazol-5-amine" "partial sensory epilepsy" "Epilepsy, Partial, Sensory" - "1-(5-O-phosphono-D-ribofuranosyl)-1H-imidazol-5-amine" "adult yolk Sac neoplasm" "adult endodermal sinus neoplasm" "adult yolk Sac tumor" @@ -129917,11 +129925,11 @@ "tetrachloromethane" "3-(10,11-dihydro-5H-dibenzo[b,f]azepin-5-yl)-N,N-dimethylpropan-1-amine" "Imipramine" + "blood replication factor C subunit 4 amount" "ALBGLOB" "Albumin/Globulin" "Albumin to Globulin Ratio Measurement" "albumin-globulin ratio measurement" - "blood replication factor C subunit 4 amount" "Absent muscle fibre dysferlin" "epilepsy, progressive myoclonic, 11" "EPILEPSY, PROGRESSIVE MYOCLONIC, 11" @@ -130238,9 +130246,9 @@ "Isolated succinate-coenzyme Q reductase deficiency" "Isolated mitochondrial respiratory chain complex II deficiency" "Isolated succinate-ubiquinone reductase deficiency" + "Infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness" "schizencephaly" "blood biogenesis of lysosome-related organelles complex 1 subunit 3 amount" - "Infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness" "Campylobacter jejuni subsp. jejuni strain NCTC 11168" "Campylobacter jejuni subsp. jejuni str. NCTC 11168" "(E,2S,3R,4R,5S,14R)-2-amino-3,4,5,14-tetrahydroxyicos-6-enoic acid" @@ -130304,8 +130312,8 @@ "Leber congenital amaurosis 16" "LCA16" "leishmaniasis" - "Space Motion Sickness" "Eurotium chevalieri" + "Space Motion Sickness" "Monocytoid Cells/Leukocytes" "MOCYCELE" "blood serum kynurenine--oxoglutarate transaminase 3 amount" @@ -130607,13 +130615,13 @@ "congenital disorder of glycosylation type 1b" "resistance to thyroid stimulating hormone" "familial non-immune hyperthyroidism" - "congenital disorder of glycosylation type I" - "congenital disorders of glycosylation, type I" "blood C-Maf-inducing protein amount" "GM 2132" "GM02132C" "GM02132" "GM2132" + "congenital disorder of glycosylation type I" + "congenital disorders of glycosylation, type I" "blood serum glutamate decarboxylase 1 amount" "plasma" "distal renal tubular acidosis 2 with progressive sensorineural hearing loss" @@ -131209,8 +131217,8 @@ "Neoplasm, Uterus" "uterus neoplasm (disease)" "neoplasm of the uterus" - "Uterine Neoplasms" "uterine tumor" + "Uterine Neoplasms" "tumor of the uterus" "uterus tumour" "UTERUS NEOPL" @@ -131571,9 +131579,9 @@ "malignant Sex cord-stromal tumour of ovary" "malignant Sex cord-stromal tumor of ovary" "malignant ovarian Sex cord-stromal tumor" + "osteoradionecrosis" "CA" "fingerprint body myopathy" - "osteoradionecrosis" "AML, GUD Gene Mutation" "AML, WT1 gene mutation" "AML, WAGR Gene Mutation" @@ -131913,8 +131921,8 @@ "blood serum glutaminase kidney isoform, mitochondrial amount" "embryonal rhabdomyosarcoma (disease)" "rhabdomyosarcoma, somatic" - "ERMS" "ERMS" + "ERMS" "embryonal rhabdomyosarcoma" "rhabdomyosarcoma, embryonal, type 1" "secondary AVN" @@ -132777,8 +132785,8 @@ "intrahepatic carcinoma of the bile duct" "intrahepatic carcinoma of bile duct" "intrahepatic bile duct carcinoma" - "ICC" "ICC" + "ICC" "intrahepatic cholangiocarcinoma (bile duct cancer)" "partial deletion of the long arm of chromosome type 17" "partial deletion of chromosome 17q" @@ -132865,8 +132873,8 @@ "CDG syndrome type IIL" "blood serum eukaryotic translation initiation factor 4 gamma 3 amount" "aldosterone producing adrenal cortex adenoma" - "APAC" "APAC" + "APAC" "Pure aldosterone-secreting adrenocortical carcinoma" "aldosterone producing adrenal cortical adenoma" "aldosterone-producing adrenal cortex adenoma" @@ -132969,8 +132977,8 @@ "middle limb segment of forelimb" "forelimb zygopod" "zeugopod of proximal segment of free upper limb" - "middle limb segment of brachial region" "zeugopod of brachial region" + "middle limb segment of brachial region" "zeugopod of forelimb" "lower arm" "blood serum phosphatidylinositol 5-phosphate 4-kinase type-2 beta amount" @@ -132981,8 +132989,8 @@ "non-small cell carcinoma of the lung" "NSCLC - non-small cell lung cancer" "non-small cell lung cancer" - "NSCLC" "NSCLC" + "NSCLC" "non-small cell cancer of the lung" "non-small cell cancer of lung" "11-beta-hydroxysteroid dehydrogenase deficiency type 1" @@ -133083,6 +133091,7 @@ "classic lattice corneal dystrophy" "LCDI" "lattice corneal dystrophy type 1" + "ovarian primitive germ cell tumor" "Kwashiorkor" "kwashiorkor" "nutritional edema with dyspigmentation of skin and hair" @@ -133092,7 +133101,6 @@ "Kwashiokor" "nutritional edema with dyspigmentation of skin and/or hair" "nutritional oedema with dyspigmentation of skin and/or hair" - "ovarian primitive germ cell tumor" "distal monosomy type 1q" "monosomy 1qter" "telomeric deletion 1q" @@ -133116,8 +133124,8 @@ "intraepithelial neoplasia of vulva" "vulvar intraepithelial tumour" "vulvar intraepithelial neoplasia" - "VIN" "VIN" + "VIN" "vulval intraepithelial neoplasia" "squamous vulvar intraepithelial neoplasia" "vulva intraepithelial neoplasia" @@ -133250,12 +133258,12 @@ "Behavioral disorders" "Behavioral changes" "Behavioural/psychiatric abnormality" - "craniosynostosis and dental anomalies" - "Kreiborg-Pakistani syndrome" "Asian desert cutaneous leishmaniasis" "cutaneous leishmaniasis" "zone of skin leishmaniasis" "leproid leishmaniasis" + "craniosynostosis and dental anomalies" + "Kreiborg-Pakistani syndrome" "blood serum interferon alpha-5 amount" "patent arterial duct-bicuspid aortic valve-hand anomalies syndrome" "NME1 measurement" @@ -133648,12 +133656,12 @@ "Leri pleonosteosis" "chondroid chordoma (morphologic abnormality)" "chondroid chordoma" - "K deficiency" - "potassium deficiency" - "Potassium Deficiency" "leiomyoma of mammalian vulva" "vulvar leiomyoma" "mammalian vulva leiomyoma" + "K deficiency" + "potassium deficiency" + "Potassium Deficiency" "malignant neoplasm of skeletal element" "malignant bone neoplasm" "skeletal element cancer" @@ -134219,8 +134227,8 @@ "Charcot-Marie-Tooth disease - pyramidal features" "HMSN 5" "blood serum alpha-internexin amount" - "blood serum cyclic AMP-dependent transcription factor ATF-3 amount" "glycosyl compound metabolism" + "blood serum cyclic AMP-dependent transcription factor ATF-3 amount" "blood serum peroxisomal sarcosine oxidase amount" "blood serum neuroendocrine protein 7B2 amount" "blood serum chemokine-like protein TAFA-5 amount" @@ -134357,16 +134365,16 @@ "camptosynpolydactyly, complex" "EDS, classic-like type" "Ehlers-Danlos syndrome, classic-like type" - "afferent glomerular arteriole" - "arteriola glomerularis afferens renis" - "afferent glomerular arteriole of kidney" - "kidney afferent arteriole" - "afferent arteriole" "CD4-negative, CD8-negative type I NKT cell secreting interleukin-4" "CD4-negative, CD8-negative type I NK T-lymphocyte secreting interleukin-4" "CD4-negative, CD8-negative type I NK T-cell secreting interleukin-4" "CD4-negative, CD8-negative type I NK T lymphocyte secreting interleukin-4" "CD4-negative, CD8-negative type I NK T cell secreting IL-4" + "afferent glomerular arteriole" + "arteriola glomerularis afferens renis" + "afferent glomerular arteriole of kidney" + "kidney afferent arteriole" + "afferent arteriole" "leukodystrophy due to alkaline ceramidase 3 deficiency" "ACER3-related early childhood-onset progressive leukodystrophy" "blood serum SHC-transforming protein 4 amount" @@ -134523,11 +134531,11 @@ "mediastinal tumour" "mediastinum neoplasm (disease)" "refractory plasma cell neoplasm" - "thymus mucoepidermoid carcinoma" "mucoepidermoid carcinoma of the Thymus" "Thymus mucoepidermoid carcinoma" "thymic mucoepidermoid carcinoma" "mucoepidermoid carcinoma of Thymus" + "thymus mucoepidermoid carcinoma" "facial hypertrichosis" "facial hypertrichosis (disease)" "Puerperal cardiomyopathy" @@ -135031,6 +135039,12 @@ "Bacillus carotovorus" "Erwinia carotovora" "chondroid hamartoma" + "Prediabetes" + "Prediabetic State" + "borderline diabetes" + "prediabetes syndrome" + "prediabetes" + "prediabetic state" "unilateral multicystic renal dysplasia" "unilateral MCDK" "obesity" @@ -135045,12 +135059,6 @@ "obesity disorder" "Adiposity" "Adiposis" - "Prediabetes" - "Prediabetic State" - "borderline diabetes" - "prediabetes syndrome" - "prediabetes" - "prediabetic state" "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type" "chondrodysplasia with congenital joint dislocations, CHST3 type" "Kozlowski Celermajer tink syndrome" @@ -135350,8 +135358,8 @@ "Ring chromosome type 2" "rose cluster 2" "blood serum tuftelin amount" - "Pure or complicated autosomal recessive spastic paraplegia" "MMND" + "Pure or complicated autosomal recessive spastic paraplegia" "two-rowed barley" "domesticated barley" "barley" @@ -135618,9 +135626,9 @@ "infantile carnitine palmitoyltransferase II deficiency" "lethal neonatal carnitine palmitoyltransferase II deficiency" "CPTII" + "blood serum zinc finger protein SNAI2 amount" "OOCHS" "Hernández-Fragoso syndrome" - "blood serum zinc finger protein SNAI2 amount" "Escherichia coli O157:H7 strain Sakai" "HPS without pulmonary fibrosis" "3-amino-2-methylpropanoic acid" @@ -135742,13 +135750,6 @@ "ovarian squamous cell neoplasm" "ovarian squamous cell tumour" "ovarian squamous cell tumor" - "HP" - "exogen allergic alveolitis" - "extrinsic allergic alveolitis" - "alveolitis" - "allergic form of pneumonitis" - "hypersensitivity pneumonitis" - "allergic pneumonitis" "malignant rectal tumour" "malignant rectum tumor" "carcinoma of rectum" @@ -135766,6 +135767,13 @@ "malignant tumour of rectum" "malignant tumor of rectum" "malignant rectal tumor" + "HP" + "exogen allergic alveolitis" + "extrinsic allergic alveolitis" + "alveolitis" + "allergic form of pneumonitis" + "hypersensitivity pneumonitis" + "allergic pneumonitis" "Anaerocellum thermophilum" "malignant granular cell tumour of skin" "malignant cutaneous granular cell tumour" @@ -135970,13 +135978,13 @@ "late infantile NCL" "oligosaccharide metabolism" "Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria" + "Monosomy 2q24" + "Del(2)(q24)" "oligodendroglioma of the brain" "oligodendroglioma of brain" "brain oligodendroglioma" "chronic acute hepatic porphyria" "acute hepatic porphyria, chronic" - "Monosomy 2q24" - "Del(2)(q24)" "blood serum pre-mRNA-splicing regulator WTAP amount" "blood serum sorting nexin-27 amount" "spindle cell nevus" @@ -136713,14 +136721,14 @@ "GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT" "GHISID2" "anaerobic balanitis" - "Androgen" - "blood serum fatty acid-binding protein 9 amount" "Carbohydrate deficient glycoprotein syndrome type IIe" "Congenital disorder of glycosylation type 2e" "CDG-IIe" "CDG2E" "Congenital disorder of glycosylation type IIe" "CDG syndrome type IIe" + "Androgen" + "blood serum fatty acid-binding protein 9 amount" "blood thioredoxin domain-containing protein 15 amount" "blood serum major intrinsically disordered Notch2-binding receptor 1 amount" "Shortening of all outermost bones of the fingers" @@ -137034,12 +137042,12 @@ "pleurisy" "pleura inflammation" "pleuritis" - "Gaucher disease, subacute neuronopathic type" - "Chronic neuronopathic Gaucher disease" - "Cerebral juvenile and adult form of Gaucher disease" "SpecificallyDependentContinuant" "specifically dependent continuant" "establishment of localisation" + "Gaucher disease, subacute neuronopathic type" + "Chronic neuronopathic Gaucher disease" + "Cerebral juvenile and adult form of Gaucher disease" "age migraine disorder symptoms begin" "age at onset of migraine disorder" "GM17166 cell" @@ -137388,8 +137396,8 @@ "Kaposi sarcoma" "Kaposi's sarcoma of cornea" "Kaposi's sarcoma" - "KS" "KS" + "KS" "Kaposi's sarcoma of soft tissue" "Kaposi's sarcoma of conjunctiva" "Kaposi's sarcoma of palate" @@ -138409,6 +138417,9 @@ "(2S)-2-amino-5-{[(1S)-1-carboxy-2-methylpropyl]amino}-5-oxopentanoic acid" "L-gamma-glutamyl-L-valine" "blood syntaxin-16 amount" + "Aglossia - adactylia" + "Hanhart syndrome" + "Jussieu syndrome" "Man5GlcNAc2-PP-Dol flippase deficiency" "CDG-In" "CDG1N" @@ -138416,9 +138427,6 @@ "CDG syndrome type In" "Congenital disorder of glycosylation type 1n" "Congenital disorder of glycosylation type In" - "Aglossia - adactylia" - "Hanhart syndrome" - "Jussieu syndrome" "TTN-related myopathy, autosomal dominant" "Low ALP" "Decreased serum alkaline phosphatase" @@ -138678,11 +138686,11 @@ "ICCA syndrome" "paroxysmal kinesigenic dyskinesia and infantile convulsions" "GM14406 cell" - "acute alcoholic Hepatitis" "alcoholic hepatitis" "alcoholic Hepatitis" "acute alcoholic liver disease" "acute alcoholic hepatitis" + "acute alcoholic Hepatitis" "MALME 3M" "MALME-3M" "combined oxidative phosphorylation deficiency caused by mutation in MRPS16" @@ -138701,10 +138709,10 @@ "mammalian vulva" "pudendum femininum" "puboperineal region" - "TGF-alpha" "hypopigmentation of the skin (disease)" "hypopigmentation of the skin" "CAL-62" + "TGF-alpha" "blood serum queuine tRNA-ribosyltransferase accessory subunit 2 amount" "adrenal gland myelolipoma" "Myelolipoma" @@ -138745,17 +138753,17 @@ "malignant neoplasm of the parathyroid" "malignant tumour of parathyroid" "dissociative symptom measurement" - "chromosome 7Q deletion" - "M7MLS1" - "myelodysplasia and leukemia syndrome with monosomy 7" - "myelodysplasia and leukaemia syndrome with monosomy 7" - "monosomy 7 of bone marrow" "adhesive capsulitis" "Bursitis" "frozen shoulder" "adhesive capsulitis of shoulder" "Adhesive capsulitis of shoulder" "adhesions-capsulitis,shoulder" + "chromosome 7Q deletion" + "M7MLS1" + "myelodysplasia and leukemia syndrome with monosomy 7" + "myelodysplasia and leukaemia syndrome with monosomy 7" + "monosomy 7 of bone marrow" "(3-endo)-8-methyl-8-azabicyclo[3.2.1]oct-3-yl 3,5-dimethylbenzoate" "Fryns macrocephaly" "blood serum carboxylesterase 3 amount" @@ -139192,13 +139200,13 @@ "thoracic gland" "grayanotoxane-56101416-pentol 23-epoxy- 614-diacetate (2beta3beta6beta14r)-" "Bifid femur - monodactylous ectrodactyly" + "PLA801-95C" + "PLA-801C" "BRIC1" "Bric type 1" "ATP8B1 benign recurrent intrahepatic cholestasis" "benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1" "cholestasis, benign recurrent intrahepatic, type 1" - "PLA801-95C" - "PLA-801C" "Monterey pine" "blood serum fumarylacetoacetase amount" "blood serum E3 ubiquitin-protein ligase RNF149 amount" @@ -139392,8 +139400,8 @@ "blood serum coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial amount" "Minocycline" "(4S,4aS,5aR,12aS)-4,7-bis(dimethylamino)-3,10,12,12a-tetrahydroxy-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide" - "intellectual disability - epilepsy - bulbous nose" "lungs" + "intellectual disability - epilepsy - bulbous nose" "Vibrio harveyi str. ATCC BAA-1116" "Vibrio harveyi strain ATCC BAA-1116" "Vibrio campbellii ATCC BAA-1116" @@ -139449,8 +139457,8 @@ "disorder of proline metabolism" "inborn error of proline metabolic process" "anal squamous cell cancer" - "squamous cell carcinoma of the anus" "squamous cell carcinoma - anus" + "squamous cell carcinoma of the anus" "epidermoid carcinoma of the anus" "anal squamous cell carcinoma" "epidermoid carcinoma of anus" @@ -139705,15 +139713,15 @@ "blood serum lamina-associated polypeptide 2 amount" "blood serum transcriptional adapter 3 amount" "blood glucose-fructose oxidoreductase domain-containing protein 2 amount" + "herpes simplex encephalitis caused by mutation in TICAM1" + "Herpes simplex encephalitis, susceptibility to, type 4" + "herpes simplex encephalitis, susceptibility to, 4" + "TICAM1 herpes simplex encephalitis" "ALK-negative anaplastic large cell lymphoma" "anaplastic large cell lymphoma, ALK-negative" "ALK- ALCL" "ALK- anaplastic large cell lymphoma" "ALCL, ALK-" - "herpes simplex encephalitis caused by mutation in TICAM1" - "Herpes simplex encephalitis, susceptibility to, type 4" - "herpes simplex encephalitis, susceptibility to, 4" - "TICAM1 herpes simplex encephalitis" "steroid-modified tinea infection" "stratum corneum of epidermis fungal infectious disease" "paediatric kidney cancer" @@ -139801,10 +139809,10 @@ "vulval fibroepithelial polyp" "vagina benign tomor, fibroepithelial (stromal) polyp" "vulvar fibroepithelial polyp" + "Ruvalcaba syndrome" "homocysteine metabolism" "Hcy metabolic process" "Hcy metabolism" - "Ruvalcaba syndrome" "Autosomal recessive deafness-onychodystrophy syndrome" "Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome" "DOOR syndrome" @@ -139924,6 +139932,14 @@ "age migraine without aura symptoms begin" "age at onset of migraine without aura" "blood serum PEST proteolytic signal-containing nuclear protein amount" + "FZD6 inherited isolated nail anomaly" + "twenty-nail dystrophy" + "onychodystrophy totalis" + "nail disorder, nonsyndromic congenital, type 10" + "nonsyndromic congenital nail disorder type 1" + "nonsyndromic congenital nail disorder 10" + "nonsyndromic congenital nail disorder type 10" + "inherited isolated nail anomaly caused by mutation in FZD6" "small cell carcinoma of oesophagus" "small cell carcinoma, oesophagus" "oesophagus small cell carcinoma" @@ -139942,14 +139958,6 @@ "small cell carcinoma, esophagus" "esophageal small cell carcinoma" "esophageal small cell neuroendocrine carcinoma" - "FZD6 inherited isolated nail anomaly" - "twenty-nail dystrophy" - "onychodystrophy totalis" - "nail disorder, nonsyndromic congenital, type 10" - "nonsyndromic congenital nail disorder type 1" - "nonsyndromic congenital nail disorder 10" - "nonsyndromic congenital nail disorder type 10" - "inherited isolated nail anomaly caused by mutation in FZD6" "blood Rab GTPase-binding effector protein 1 amount" "blood E3 ubiquitin/ISG15 ligase TRIM25 amount" "transplantation of liver" @@ -139975,11 +139983,11 @@ "neoplasm of Rathke's pouch" "blood serum glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 amount" "DC.103+11b-.Lv" + "red blood cell" + "RBC" "XLP" "Purtilo syndrome" "Duncan disease" - "red blood cell" - "RBC" "4-oxo-4-{[(3R,5aS,6R,8aS,9R,10S,12R,12aR)-3,6,9-trimethyldecahydro-3,12-epoxypyrano[4,3-j][1,2]benzodioxepin-10-yl]oxy}butanoic acid" "preterm premature rupture of the membranes, susceptibility to" "PPROM" @@ -140300,15 +140308,15 @@ "pituitary hormone deficiency, combined, 1" "blood serum forkhead box protein O4 amount" "Thompson-Baraitser syndrome" - "biliary cirrhosis" - "total intestinal aganglionosis" - "aganglionosis, total intestinal" "alcohol-related polyneuropathy" "alcoholic polyneuropathy" "Alcohol-related polyneuropathy" "alcoholic neuropathy" "Alcoholic Neuropathy" "Alcoholic polyneuropathy" + "biliary cirrhosis" + "total intestinal aganglionosis" + "aganglionosis, total intestinal" "1-[(2R,5S)-5-(hydroxymethyl)-2,5-dihydrofuran-2-yl]-5-methylpyrimidine-2,4(1H,3H)-dione" "Stavudine" "blood serum thromboxane-A synthase amount" @@ -140398,10 +140406,10 @@ "Endometrial Adenoacanthoma" "Adenocanthoma of Endometrium" "129/J" + "blood serum surfactant-associated protein 2 amount" "pancreatic mucinous cystadenoma" "mucinous cystadenoma of pancreas" "pancreas mucinous cystadenoma" - "blood serum surfactant-associated protein 2 amount" "Segmentation:5-9 somites" "Freire-Maia syndrome" "tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities" @@ -140484,9 +140492,9 @@ "Lymphangitis NOS" "Lymphangitis" "lymphangitis" + "brachial part of trunk of subclavian artery" "hypertriglyceridemia (disease)" "hypertriglyceridemia" - "brachial part of trunk of subclavian artery" "Laxova-Opitz syndrome" "Waisman syndrome, X-linked recessive" "early-onset parkinsonism-intellectual disability syndrome" @@ -140579,9 +140587,9 @@ "Pneumocystis pneumonia" "pneumocystosis pneumonia" "PCP" + "blood serum phytanoyl-CoA dioxygenase, peroxisomal amount" "GPR143-related foveal hypoplasia with or without albinism" "Epidermal hamartoma syndrome" - "blood serum phytanoyl-CoA dioxygenase, peroxisomal amount" "desmin-related cardiomyopathy" "CRYAB-related myofobrillar myopathy" "synthetic dextrose minimal medium" @@ -140703,6 +140711,7 @@ "intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly" "MRT75" "GM17235 cell" + "blood serum kelch-like protein 7 amount" "AOM" "medial otitis" "middle ear inflammation" @@ -140711,7 +140720,6 @@ "middle Ear Inflammation" "otitis Media" "otitis media (disease)" - "blood serum kelch-like protein 7 amount" "malignant aorta neoplasm" "malignant tumour of the aorta" "malignant tumor of the aorta" @@ -140859,12 +140867,12 @@ "bone biosynthesis" "Peroxisome biogenesis disorder complementation group B" "PBD-CG7" - "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" - "type A insulin resistance syndrome" "FCAS" "Familial cold autoinflammatory syndrome" "FCAS1" "FCU" + "insulin resistant diabetes mellitus with acanthosis nigricans and hyperandrogenism" + "type A insulin resistance syndrome" "PBC" "chronic non-suppurative destructive cholangitis" "cholestatic cirrhosis" @@ -141143,8 +141151,8 @@ "branched-chain 2-ketoacid dehydrogenase deficiency" "MSUD" "branched chain ketoaciduria" - "mediastinal node" "5-hydroxylysine" + "mediastinal node" "vps45 deficiency" "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" "osteo-onychodysplasia" @@ -141164,7 +141172,6 @@ "adenosquamous lung cancer" "adenosquamous lung carcinoma" "lung adenosquamous carcinoma" - "blood cholesterol ester 16:0 amount" "46,XY sex reversal type 1" "46,XY sex reversal 1" "46,XY true hermaphroditism, SRY-related" @@ -141172,6 +141179,7 @@ "46,XY gonadal dysgenesis, complete, SRY-related" "SRXY1" "46XY sex reversal 1, Y-linked" + "blood cholesterol ester 16:0 amount" "GM17850 cell" "PXA" "pleomorphic Xantho-astrocytoma" @@ -141628,6 +141636,7 @@ "1H-1,2,4-triazol-3-amine" "Amitrole" "blood serum membrane-associated guanylate kinase, WW and PDZ domain-containing protein 2 amount" + "blood serum RING finger protein 24 amount" "salivary gland acinic cell tumour" "salivary gland acinic cell neoplasm" "acinic cell tumour of salivary gland" @@ -141641,7 +141650,6 @@ "salivary gland acinic cell cancer" "acinic cell carcinoma of salivary gland" "salivary gland acinic cell carcinoma" - "blood serum RING finger protein 24 amount" "blood serum adenylate kinase 4, mitochondrial amount" "MCT" "T mast cells" @@ -141676,7 +141684,6 @@ "ADK hypermethioninemia" "Hypermethioninemia encephalopathy due to ADK deficiency" "OCA5" - "SPG62" "hyperprolinemia caused by mutation in ALDH4A1" "hyperprolinemia type 2" "delta-1-pyrroline-5-carboxylate dehydrogenase deficiency" @@ -141684,6 +141691,7 @@ "disorder of 1-pyrroline-5-carboxylate dehydrogenase activity" "1-pyrroline-5-carboxylate dehydrogenase activity disease" "ALDH4A1 hyperprolinemia" + "SPG62" "Graham Little syndrome" "Piccardi-Lassueur-Little syndrome" "GM17282 cell" @@ -141776,13 +141784,13 @@ "CMTDIE" "Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis" "autosomal dominant intermediate Charcot-Marie-Tooth disease type E" + "Syndrome with DSD of gynecological interest" "neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation" "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and intellectual disability" "Okamoto syndrome" "AUKS" "hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation" "Au-Kline syndrome" - "Syndrome with DSD of gynecological interest" "blood serum thioredoxin amount" "blood serum teneurin-4 amount" "Micrococcus cinereus" @@ -141950,8 +141958,8 @@ "gastrointestinal mixed Adenoneuroendocrine carcinoma" "digestive system mixed adenoneuroendocrine carcinoma" "gastrointestinal MANEC" - "MANEC" "MANEC" + "MANEC" "Fistula in ano" "chlorine acne" "GM14417 cell" @@ -142026,6 +142034,7 @@ "blood serum receptor-type tyrosine-protein phosphatase H amount" "angiolipoma" "angiolipoma, benign" + "shaft of hair" "down regulation of salivation" "downregulation of salivation" "negative regulation of salivation" @@ -142033,13 +142042,12 @@ "down-regulation of saliva secretion" "down regulation of saliva secretion" "downregulation of saliva secretion" - "shaft of hair" - "blood serum collagen alpha-1(XIII) chain amount" "hypertensive emergency" "malignant hypertension" "malignant phase hypertension" "Hypertension, Malignant" "accelerated-malignant hypertension" + "blood serum collagen alpha-1(XIII) chain amount" "blood serum elongation factor 1-alpha 1 amount" "Emery-Dreifuss muscular dystrophy, autosomal recessive" "EDMD3" @@ -142078,6 +142086,8 @@ "sarcoma of testis" "testicular sarcoma" "Boyes Arabidopsis Growth Stage 1.1" + "Primary skeletal dysplasia with decreased bone density" + "Primary osteodysplasia with decreased bone density" "disease remission" "N-[(2E)-3-phenylprop-2-enoyl]glycine" "Chickenpox" @@ -142089,8 +142099,6 @@ "blood serum ubiquitin thioesterase otulin amount" "ulnar hypoplasia-lobster-claw deformity of feet syndrome" "Van den Berghe-Dequecker syndrome" - "Primary skeletal dysplasia with decreased bone density" - "Primary osteodysplasia with decreased bone density" "blood serum carboxypeptidase Q amount" "mullerian mixed tumor" "carcinosarcoma" @@ -142309,14 +142317,11 @@ "Mixed hyperlipoproteinemia" "Acrodysplasia scoliosis" "Brachydactyly - scoliosis - carpal fusion" + "ZMYM2-related neurodevelopmental disorder with multiple anomalies" "Bloom-Torre-Machacek syndrome" "Bloom syndrome" "BSyn" "congenital telangiectatic erythema syndrome" - "ZMYM2-related neurodevelopmental disorder with multiple anomalies" - "Ornithine carbamoyltransferase deficiency" - "OCT deficiency" - "OTC deficiency" "Delayed attainment of gross motor milestones" "Limited gross motor skills" "Delayed gross motor milestones" @@ -142328,6 +142333,9 @@ "Delayed attainment of gross motor skills" "Gross motor delay" "Developmental delay, gross motor" + "Ornithine carbamoyltransferase deficiency" + "OCT deficiency" + "OTC deficiency" "Immunodeficiency - centromeric instability - facial anomalies" "Pregnenolone sulfate" "20-oxopregn-5-en-3beta-yl hydrogen sulfate" @@ -142398,10 +142406,10 @@ "SERKAL syndrome" "Sex reversion-kidneys, adrenal and lung dysgenesis syndrome" "r1" + "blood serum choriogonadotropin subunit beta amount" "Gait apraxia (finding)" "Gait Apraxia" "gait apraxia" - "blood serum choriogonadotropin subunit beta amount" "blood serum hydroxysteroid dehydrogenase-like protein 2 amount" "nonmelanoma skin carcinoma" "nonmelanoma skin cancer" @@ -142413,14 +142421,14 @@ "blood serum selenoprotein W amount" "delta1-pyrroline-5-carboxylate synthetase deficiency" "P5CS deficiency" + "AJ" + "A" "Spine Neck" "pedicle" "Neck (volume)" "adult neck" "short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2" "SSFSC2" - "AJ" - "A" "TAR syndrome" "thrombocytopenia-absent radius syndrome" "radial aplasia-thrombocytopenia syndrome" @@ -142474,9 +142482,9 @@ "blood serum short transmembrane mitochondrial protein 1 (human) amount" "blood serum tomoregulin-1 amount" "blood serum histone RNA hairpin-binding protein amount" - "HRQOL" "Ler" "Landsberg erecta" + "HRQOL" "haematopoietic and lymphoid neoplasms" "hematopoietic tumor" "HEMOLYMPHORETICULAR tumor, malignant" @@ -142934,6 +142942,7 @@ "genetic renal tubular dysgenesis" "renal tubular dysgenesis of genetic origin" "JPT" + "germ cell tumor of the mediastinum" "mediastinum germ cell tumour" "germ cell tumour of the mediastinum" "germ cell neoplasm of mediastinum" @@ -142945,7 +142954,6 @@ "mediastinal germ cell tumor" "thymic germ cell tumor" "mediastinum germ cell tumor" - "germ cell tumor of the mediastinum" "vaginal glandular tumor" "vaginal glandular neoplasm" "vagina glandular cell neoplasm" @@ -143355,7 +143363,6 @@ "benign tumour of the colon" "colon benign neoplasm" "benign colonic tumour" - "blood serum kallikrein-15 amount" "intervertebral Disc degenerative disease" "intervertebral disc disease" "intervertebral disc degeneration" @@ -143374,6 +143381,7 @@ "IDD" "intervertebral disk disease" "intervertebral Disc Degeneration" + "blood serum kallikrein-15 amount" "Wieacker-Wolff syndrome" "Foot contractures - muscle atrophy - oculomotor apraxia" "placoda otica" @@ -143474,14 +143482,14 @@ "blue diaper syndrome" "familial hypercalcemia-nephrocalcinosis-indicanuria syndrome" "Drummond syndrome" + "Autosomal recessive posterior column ataxia and retinitis pigmentosa" + "PCARP" "leukodystrophy, hypomyelinating, type 9" "HLD9" "RARS-related autosomal recessive hypomyelinating leukodystrophy" "leukodystrophy caused by mutation in RARS" "RARS leukodystrophy" "hypomyelinating leukodystrophy type 9" - "Autosomal recessive posterior column ataxia and retinitis pigmentosa" - "PCARP" "Ureaplasma urealyticum biovar 1" "blood serum CGG triplet repeat-binding protein 1 amount" "blood serum heat shock factor 2-binding protein amount" @@ -143586,9 +143594,6 @@ "blood serum methionine-R-sulfoxide reductase B1 amount" "Bleeding below the skin" "Subcutaneous haemorrhage" - "CHO/IR" - "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" - "squamous cell carcinoma of liver and IBT" "Accelerated skeletal maturation - peculiar facies - failure to thrive" "HS" "hidradenitis suppurativa" @@ -143599,6 +143604,9 @@ "hidradenitis" "verneuil disease" "fox den disease" + "CHO/IR" + "neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" + "squamous cell carcinoma of liver and IBT" "hereditary thrombotic thrombocytopenic purpura" "congenital ADAMTS13 deficiency" "Upshaw-Schulman syndrome" @@ -143816,8 +143824,8 @@ "Hermansky-Pudlak syndrome 2" "lithium chloride" "blood plasma 5-HETE amount" - "ND01173 cell" "autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" + "ND01173 cell" "experimentally derived cell" "Aortic aneurysm syndrome due to TGF-beta receptors anomalies" "MP" @@ -144005,7 +144013,6 @@ "UCMD" "scapula bone" "Shoulder Blade" - "type 1A" "Neoplasm, Respiratory Tract" "RESPIRATORY TRACT NEOPL" "neoplasms, respiratory tract" @@ -144027,6 +144034,7 @@ "Neoplasms, Respiratory Tract" "Respiratory Tract Neoplasm" "Respiratory Tract Neoplasms" + "type 1A" "benign tumor of the soft tissue" "benign tumour of the soft tissue" "benign neoplasm of the soft tissue" @@ -144133,11 +144141,11 @@ "Micrococcus gonococcus" "Merismopedia gonorrhoeae" "blood complement receptor type 2 amount" - "osteoarthritis of the hand" - "osteoarthritis, hand" "radioulnar synostosis" "radioulnar synostosis (disease)" "radioulnar fusion" + "osteoarthritis of the hand" + "osteoarthritis, hand" "pseudo-Hurler polydystrophy" "mucolipidosis type 3 alpha/beta" "mucolipidosis type III" @@ -144724,8 +144732,8 @@ "lamina limitans anterior corneae" "anterior limiting lamina" "Bowman's membrane" - "lamina limitans anterior (cornea)" "Bowman's anterior elastic lamina" + "lamina limitans anterior (cornea)" "anterior elastic lamina" "Bowman's layer" "Smart-3seq" @@ -144839,8 +144847,8 @@ "acute megakaryocytic leukaemia" "acute megakaryoblastic leukaemia (FAB type M7)" "thrombocytic leukemia" - "AMKL" "AMKL" + "AMKL" "pea aphid" "Acyrthosiphum pisum" "Acyrhosiphum pisum" @@ -145211,9 +145219,6 @@ "Pseudomonas solanacearum" "Burkholderia solanacearum" "blood 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 amount" - "Intracranial hypertension" - "Rise in pressure inside skull" - "Intracranial pressure elevation" "giant cell bone sarcoma" "giant cell tumor of bone, malignant (morphologic abnormality)" "malignant giant cell tumour of bone" @@ -145230,6 +145235,9 @@ "malignancy in giant cell tumor of bone" "Dedifferentiated giant cell tumour" "OSTEOCLASTOMA, malignant" + "Intracranial hypertension" + "Rise in pressure inside skull" + "Intracranial pressure elevation" "spinocerebellar degeneration-corneal dystrophy syndrome" "Der Kaloustian-Jarudi-Khoury syndrome" "corneal-cerebellar syndrome" @@ -145356,8 +145364,8 @@ "TimeUnit" "TimeUnitOther" "ductal carcinoma, cribriform type" - "Deinobacter" "leptomeninges" + "Deinobacter" "fallopian tube transitional cell cancer" "fallopian tube transitional cell carcinoma" "Tonsils" @@ -145420,9 +145428,9 @@ "endocrine gland cancer" "neoplasm of endocrine system" "Endocrine tumor" - "cerebral sarcoidosis" "sarcoidosis of telencephalon" "telencephalon sarcoidosis" + "cerebral sarcoidosis" "blood serum ragulator complex protein LAMTOR2 amount" "AML, t(16;21)(p11.2;q22.2)" "AML, t(16;21)(p11;q22)" @@ -145588,6 +145596,7 @@ "autosomal recessive congenital cataract 3" "cataract (disease) caused by mutation in FOXE3" "FOXE3 cataract (disease)" + "Donohue syndrome" "Periorbital melanosis" "Pigmentation around the eyes" "Infraorbital pigmentation" @@ -145610,7 +145619,6 @@ "syndromic X-linked intellectual disability type 34" "MRXSML" "intellectual developmental disorder, X-linked syndromic 34" - "Donohue syndrome" "mucoid carcinoma" "pseudomyxoma peritonei with unknown primary site" "mucin-secreting adenocarcinoma" @@ -145679,8 +145687,6 @@ "benign neoplasm of the soft tissue and bone" "benign tumor of the soft tissue and bone" "blood serum transmembrane emp24 domain-containing protein 9 amount" - "CMT" - "Charcot-Marie-Tooth hereditary neuropathy" "Simian immunodeficiency virus caused disease or disorder" "Simian immunodeficiency virus infectious disease" "simian immunodeficiency virus infection" @@ -145694,6 +145700,8 @@ "lymphangiosarcoma" "lymphangiosarcoma of Stewart and Treves" "Stewart-Treves syndrome" + "CMT" + "Charcot-Marie-Tooth hereditary neuropathy" "blood serum target of Myb1 membrane trafficking protein amount" "hereditary mitral valve disease" "congenital anomaly of mitral valve" @@ -145969,14 +145977,14 @@ "cholesteatoma (disease)" "cholesteatoma" "joint laxity, short stature, and myopia" + "Cervico-oculo-acoustic syndrome" "antimetabolite" + "blood serum kallikrein-9 amount" "bacillus Calmette-Guerin BCG" "Mycobacterium tuberculosis var. bovis BCG" "BCG" "bacillus Calmette-Guerin" - "blood serum kallikrein-9 amount" "blood serum ELKS/Rab6-interacting/CAST family member 1 amount" - "Cervico-oculo-acoustic syndrome" "Sex-chromosome anomaly" "endocardial heart tube" "embryonic heart tube" @@ -146046,8 +146054,8 @@ "primary skeletal dysplasia" "primary osteodysplasia" "primary bone dysplasia" - "extrahepatic biliary Stasis" "cholestasis of extrahepatic bile duct" + "extrahepatic biliary Stasis" "Cholestasis, Extrahepatic" "extrahepatic biliary stasis" "extrahepatic obstructive biliary disease (disorder)" @@ -146201,14 +146209,14 @@ "15q24 recurrent microdeletion syndrome" "monosomy 15q24" "blood protein LYRIC amount" + "trisomy 10q22.3q23.3" + "dup(10)(q22.3q23.3)" "CVD1" "congenital valvular dysplasia" "myxomatous valvular dystrophy, X-linked" "valvular heart disease, congenital" "XMVD" "cardiac valvular dysplasia, X-linked" - "trisomy 10q22.3q23.3" - "dup(10)(q22.3q23.3)" "Brachycardia" "Slow heartbeats" "non-classical monocyte, human" @@ -146366,9 +146374,9 @@ "dHMN" "neuronopathy, distal hereditary motor" "dSMA" - "classically activated macrophage" "p-null phenotype" "Tj[a-]" + "classically activated macrophage" "blood serum interferon regulatory factor 8 amount" "tibiofibular terminal transverse meromelia, unilateral" "disease with focal palmoplantar hyperkeratosis as a major feature" @@ -146636,11 +146644,11 @@ "prostate gland transitional cell carcinoma" "primary prostate urothelial carcinoma" "transitional cell carcinoma of the prostate" - "blood serum n-(15z-tetracosenoyl)-1-deoxysphing-4-enine amount" "Cranial Nerve V" "Nervus Trigeminus" "trigeminus" "Fifth Cranial Nerve" + "blood serum n-(15z-tetracosenoyl)-1-deoxysphing-4-enine amount" "blood serum aminopeptidase NAALADL1 amount" "Sulfolobus fataricus" "Aspergillus nidulans" @@ -146652,12 +146660,12 @@ "Delusions" "neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures" "LNZ-308" + "blood serum defensin beta 118 amount" "Ureaplasma urethritis" "Ureaplasma disease or disorder" "Ureaplasma Infections" "Ureaplasma infectious disease" "Ureaplasma caused disease or disorder" - "blood serum defensin beta 118 amount" "microeinstein per second and square meter" "distal arthrogryposis type IID" "distal arthrogryposis type 4" @@ -146735,13 +146743,13 @@ "spirochetal jaundice" "Fort Bragg fever" "Leptospira caused disease or disorder" + "SCAR13" + "Autosomal recessive spinocerebellar ataxia type 13" + "Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency" "blood serum TRAF family member-associated NF-kappa-B activator amount" "meso-erythritol" "erythritol" "Erythritol" - "SCAR13" - "Autosomal recessive spinocerebellar ataxia type 13" - "Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency" "extra-adrenal chromaffin neoplasm" "Extra-Adrenal Sympathetic Paraganglionic Neoplasm" "extra-adrenal Chromaffinoma" @@ -146759,12 +146767,12 @@ "AR-CMT2" "Gardner syndrome" "Gardner's syndrome" - "GM17814 cell" "CDG-Io" "CDG1O" "Carbohydrate deficient glycoprotein syndrome type Io" "CDG syndrome type Io" "Congenital disorder of glycosylation type Io" + "GM17814 cell" "glycogen" "CRB2 focal segmental glomerulosclerosis" "focal segmental glomerulosclerosis type 9" @@ -146866,8 +146874,8 @@ "blood CD276 molecule amount" "transitional cell carcinoma of urethra" "urethral transitional cell carcinoma" - "urethra transitional cell carcinoma" "urethral urothelial carcinoma" + "urethra transitional cell carcinoma" "urethral urothelial cancer" "transitional cell carcinoma of the urethra" "Brain inflammation" @@ -147297,21 +147305,21 @@ "intestine epithelial tissue" "bowel epithelial tissue" "ultraviolet keratitis" + "Ocular hypertension" + "Ocular Hypertension" + "Ocular hypertension (disorder)" + "ocular hypertension" "WC00060" "mixed sclerosing bone dystrophy" "MSBD syndrome" "NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME" "NEDJED" "neurodevelopmental, jaw, eye, and digital syndrome" - "Ocular hypertension" - "Ocular Hypertension" - "Ocular hypertension (disorder)" - "ocular hypertension" "UPD(X)" "uniparental disomy of chromosome type X" - "gastric fundus" "stomach fundus" "fundus gastricus (ventricularis)" + "gastric fundus" "uveal coloboma-cleft lip and palate-intellectual disability" "FCS syndrome" "Faciocutaneoskeletal syndrome" @@ -147455,9 +147463,9 @@ "hyperphenylalaninemia, Bh4-deficient, type B" "hyperphenylalaninemia due to GTP cyclohydrolase deficiency" "GTPCH deficiency" + "blood serum transcription regulator protein BACH2 amount" "eyelid hypopigmentation" "hypopigmentation of eyelid" - "blood serum transcription regulator protein BACH2 amount" "Craniofrontonasal dysplasia, Teebi type" "Teebi syndrome" "Brachycephalofrontonasal dysplasia" @@ -147639,8 +147647,8 @@ "lymphocytopenia" "lymphopenia (disease)" "lymphopenia" - "CD16+ monocyte" "AxD" + "CD16+ monocyte" "blood phosphoethanolamine/phosphocholine phosphatase amount" "blood serum zinc finger protein 774 amount" "cancer of uterine ligament" @@ -147774,13 +147782,13 @@ "Lycopersicum esculentum" "polymorphic light eruption" "polymorphous light eruption" - "Oculopharyngeal distal myopathy" - "OPDM" "congenital pulmonary alveolar proteinosis" "congenital PAP" "inborn error of pulmonary surfactant metabolism" "inborn error of surfactant metabolism" "hereditary pulmonary alveolar proteinosis" + "Oculopharyngeal distal myopathy" + "OPDM" "rheumatic disease" "rheumatism" "rheumatic disorder" @@ -147983,12 +147991,13 @@ "blood serum vacuolar protein sorting-associated protein 26B amount" "Thompson-Baraitser syndrome" "Thompson Baraitser syndrome" + "ADA2 deficiency" "basal nuclei (basal ganglia)" "basal ganglia set" "set of basal ganglia" "basal ganglia" - "ADA2 deficiency" "blood protein disulfide isomerase CRELD1 amount" + "Blepharophimosis types 1 and 2 due to polyA expansion" "oxyntic cell" "Klatskin's tumor" "hilar CC" @@ -148000,7 +148009,6 @@ "Klatskin tumour" "hilar CCA" "perihilar extrahepatic bile duct carcinoma" - "Blepharophimosis types 1 and 2 due to polyA expansion" "partial deletion of chromosome type 19" "partial monosomy of chromosome 19" "Actinobacillus pleuropneumoniae serotype 7" @@ -148307,8 +148315,8 @@ "NRAS Noonan syndrome" "benign neoplasm of cauda equina" "colloidal adenocarcinoma of the colon" - "colloid colon adenocarcinoma" "colloid adenocarcinoma of colon" + "colloid colon adenocarcinoma" "colloid adenocarcinoma of the colon" "colon colloidal adenocarcinoma" "colonic colloidal adenocarcinoma" @@ -148787,9 +148795,9 @@ "digestive system melanoma" "gastrointestinal melanoma" "GM17846 cell" + "marginal papular palmoplantar hyperkeratosis" "Camero-Lituania-Cohen syndrome" "Genoa syndrome" - "marginal papular palmoplantar hyperkeratosis" "melon necrotic spot virus MNSV" "MNSV" "Tuberculosis, Female Genital" @@ -149004,11 +149012,11 @@ "IBM3" "Hereditary inclusion body myopathy type 3" "HIBM3" + "NVP severity measurement" + "Morning sickness severity measurement" "Achlamydospora indica" "Achlamydospora indicum" "fungal endophyte pNS1-2" - "NVP severity measurement" - "Morning sickness severity measurement" "embryonic dorsal organ" "recombinase activating gene 1 deficiency" "blood serum growth arrest-specific protein 7 amount" @@ -149193,8 +149201,8 @@ "Conradi Hunermann syndrome" "X-linked chondrodysplasia punctata type 2" "(5Z,8Z,11Z,14Z,17Z)-icosa-5,8,11,14,17-pentaenoic acid" - "EBV-EA seropositivity" "blood collagen alpha-1(V) chain amount" + "EBV-EA seropositivity" "APMF" "acute (malignant) myelofibrosis" "acute myelosclerosis" @@ -149469,10 +149477,10 @@ "AML, CCAAT/Enhancer Binding Protein Alpha Biallelic Gene Mutation" "Silicibacter pomeroyi" "solitary myofibroma" - "SPG71" "Ureterocele" "ureterocele (disease)" "ureterocele" + "SPG71" "idiopathic aplastic aplasia" "idiopathic bone marrow failure" "(2R)-2-[(7Z,10Z,13Z,16Z)-docosa-7,10,13,16-tetraenoyloxy]-3-(hexadecanoyloxy)propyl 2-(trimethylammonio)ethyl phosphate" @@ -149832,8 +149840,8 @@ "leiomyomatosis, no ICD-O subtype" "SEG" "blood serum sorting nexin-11 amount" - "seminal plasma" "blood glutamine amidotransferase-like class 1 domain-containing protein 3, mitochondrial amount" + "seminal plasma" "Self-injurious behavior" "Autoagression" "Self-harm" @@ -149855,8 +149863,8 @@ "splenic marginal zone B-cell lymphoma with villous lymphocytes" "marginal zone lymphoma of the spleen" "splenic marginal zone B-cell lymphoma" - "SMZL" "SMZL" + "SMZL" "B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity" "SEMDJL1" "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type" @@ -150393,9 +150401,9 @@ "amyloidosis, MERETOJA type" "familial amyloidosis, Finnish type" "familial amyloid polyneuropathy type IV" + "GAMOS10" "typical endometrial hyperplasia" "endometrial hyperplasia without atypia" - "GAMOS10" "GM17262 cell" "peripheral demyelinating neuropathy" "Mesangiocapillary glomerulonephritis type 2" @@ -150411,11 +150419,11 @@ "cerebral embolism" "Intracranial Embolism" "intracranial embolism" + "DmD20_c5" "D20-c5" "ML_DmD20_c5" "DmD20-c5" "ML DmD20 c5" - "DmD20_c5" "CMT2B" "blood serum heterogeneous nuclear ribonucleoprotein A1 amount" "blood serum cAMP-dependent protein kinase type II-alpha regulatory subunit amount" @@ -150450,10 +150458,10 @@ "Abnormal circulating LDH concentration" "Abnormal LDH level" "delay discounting measurement" - "endometrioid neoplasm" - "endometrioid tumor (morphologic abnormality)" "Cerebroretinal microangiopathy with calcifications and cysts" "CRMCC" + "endometrioid neoplasm" + "endometrioid tumor (morphologic abnormality)" "partial trisomy of chromosome 16p" "partial duplication of chromosome 16p" "partial duplication of the short arm of chromosome type 16" @@ -150544,7 +150552,6 @@ "Rare familial disorder with hypertrophic obstructive cardiomyopathy" "blood serum synaptotagmin-like protein 2 amount" "blood acyl-protein thioesterase 2 amount" - "Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome syndrome" "hereditary Fanconi renotubular syndrome" "Infection due to Listeria monocytogenes (disorder)" "infection by Listeria monocytogenes" @@ -150558,6 +150565,7 @@ "Infection by Listeria monocytogenes" "listeriosis" "Listeriosis, unspecified (disorder)" + "Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome syndrome" "shortened long tubular bones" "Short long bone" "Short tubular bones" @@ -150700,8 +150708,8 @@ "Porphyromonas gingivalis str. ATCC 33277" "6-chloro-1-(4-hydroxyphenyl)-2,3,4,5-tetrahydro-1H-3-benzazepine-7,8-diol" "eye(s), dry" - "Dry Eye Syndrome" "KCS" + "Dry Eye Syndrome" "tear film insufficiency" "Tear film insufficiency" "sicca, keratoconjunctivitis" @@ -151573,11 +151581,6 @@ "carcinoma of rectum" "carcinoma of the rectum" "rectum carcinoma" - "plantar lipomatosis-unusual facies-developmental delay syndrome" - "plantar lipomatosis-facial dysmorphism-developmental delay syndrome" - "Pierpont syndrome" - "alanine transaminase measurement" - "alanine aminotransferase measurement" "West Nile virus caused infectious encephalitis" "West Nile virus infectious encephalitis" "West Nile fever encephalitis" @@ -151588,6 +151591,11 @@ "West Nile fever with encephalitis" "West Nile Fever with encephalitis" "West-Nile encephalitis" + "plantar lipomatosis-unusual facies-developmental delay syndrome" + "plantar lipomatosis-facial dysmorphism-developmental delay syndrome" + "Pierpont syndrome" + "alanine transaminase measurement" + "alanine aminotransferase measurement" "brain meningioma (disease)" "brain meningioma" "meningioma (disease) of brain" @@ -151680,15 +151688,15 @@ "Mesomelic limb shortening" "Mesomelic shortening of limbs" "N-methylmalonamic acid" - "Chitayat syndrome" - "CHYTS" - "Chitayat syndrome; CHYTS" "Connective tissue disorder due to LH3 deficiency" "Bone fragility-contractures-arterial rupture-deafness syndrome" "UP/MPCM" "urticaria pigmentosa/maculopapular cutaneous mastocytosis" "maculopapular cutaneous mastocytosis" "urticaria pigmentosa" + "Chitayat syndrome" + "CHYTS" + "Chitayat syndrome; CHYTS" "transitional cell carcinoma" "urothelial cell carcinoma" "carcinoma of transitional epithelial cell" @@ -151826,9 +151834,9 @@ "HPT-JT" "hyperparathyroidism-2" "blood serum heterogeneous nuclear ribonucleoprotein F amount" + "blood serum integrin alpha-V amount" "blood serum ubiquitin-like modifier-activating enzyme 6 amount" "Leber congenital amaurosis with early-onset deafness" - "blood serum integrin alpha-V amount" "blood serum ataxin-10 amount" "Joubert syndrome 1" "JBTS1" @@ -151870,6 +151878,12 @@ "dermis disease" "disorder of dermis" "dermis disease or disorder" + "polyp of the ethmoidal sinus" + "polyp of the ethmoid sinus" + "ethmoid sinus polyp" + "polyp of ethmoid sinus" + "ethmoidal polyp" + "ethmoidal sinus polyp" "X-linked central congenital hypothyroidism with late-onset macroorchidism" "IGSF1 deficiency syndrome" "central hypothyroidism and testicular enlargement" @@ -151880,12 +151894,6 @@ "Immunoglobulin superfamily member 1 deficiency syndrome" "Streptococcus thermophilus strain CNRZ1066" "Streptococcus thermophilus str. CNRZ1066" - "polyp of the ethmoidal sinus" - "polyp of the ethmoid sinus" - "ethmoid sinus polyp" - "polyp of ethmoid sinus" - "ethmoidal polyp" - "ethmoidal sinus polyp" "domestic horse" "Equus ferus caballus" "Equus przewalskii forma caballus" @@ -151966,12 +151974,12 @@ "benign duodenal tumor" "benign tumor of the duodenum" "benign duodenal tumour" + "Ahn-Lerman-Sagie syndrome" "osteopetrosis (disease) caused by mutation in LRP5" "osteopetrosis, autosomal dominant type 1" "LRP5 osteopetrosis (disease)" "autosomal dominant osteopetrosis type 1" "OPTA1" - "Ahn-Lerman-Sagie syndrome" "blood serum cAMP-dependent protein kinase type II-beta regulatory subunit amount" "Achondrogenesis, Langer-Saldino type" "bile duct squamous cell carcinoma" @@ -151979,8 +151987,8 @@ "DNA_sequencer" "Fitzsimmons-McLachlan-Gilbert syndrome" "dedifferentiated liposarcoma" - "DDLS" "DDLS" + "DDLS" "Dedifferentiated liposarcoma" "DDLPS" "A-20" @@ -152177,8 +152185,6 @@ "iron-refractory iron deficiency anemia" "IRIDA syndrome" "iron-refractory iron deficiency anaemia" - "I-cell disease" - "N-acetylglucosamine 1-phosphotransferase deficiency" "hyperphenylalaninemia, BH4-deficient C" "hyperphenylalaninemia due to dihydropteridine reductase deficiency" "disorder of 6,7-dihydropteridine reductase activity" @@ -152187,6 +152193,8 @@ "PKU type 2" "phenylketonuria type 2" "hyperphenylalaninemia, Bh4-deficient, type C" + "I-cell disease" + "N-acetylglucosamine 1-phosphotransferase deficiency" "Reticulum cell sarcoma" "reticulosarcoma" "reticulum cell sarcoma" @@ -152424,8 +152432,8 @@ "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2" "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4" "subcutaneous panniculitis-like T-cell lymphoma (Alpha/Beta type)" - "SPTCL" "SPTCL" + "SPTCL" "subcutaneous panniculitis-like T-cell lymphoma, Alpha/Beta type" "subcutaneous panniculitis-like T-cell lymphoma" "subcutaneous panniculitic T-cell lymphoma" @@ -152615,7 +152623,6 @@ "Juvenile rheumatoid arthritis" "Juvenile chronic arthritis" "blood serum lysosomal acid glucosylceramidase amount" - "Vgamma2-negative" "non-toxic simple goitre" "euthyroid goiter" "euthyroid goitre" @@ -152625,8 +152632,9 @@ "nontoxic goiter" "Nodule-thyroid, non tox" "non-toxic goitre" - "3-(1H-indol-3-yl)propanoic acid" + "Vgamma2-negative" "blood serum outer dynein arm-docking complex subunit 4 amount" + "3-(1H-indol-3-yl)propanoic acid" "Pericytic tumour" "perivascular neoplasm" "perivascular tumour" @@ -152993,10 +153001,10 @@ "neurodegeneration with brain iron accumulation 5" "neurodegeneration with brain iron accumulation type 5" "beta-propeller protein-associated neurodegeneration" - "blood serum disintegrin and metalloproteinase domain-containing protein 7 amount" "Epidermolysis bullosa dystrophica" "DEB" "Dermolytic epidermolysis bullosa" + "blood serum disintegrin and metalloproteinase domain-containing protein 7 amount" "pharyngeal system development disease" "disease of pharyngeal system development" "disorder of pharyngeal system development" @@ -153386,10 +153394,10 @@ "ovarian Müllerian adenosarcoma" "ovarian Mullerian adenosarcoma" "ovarian adenosarcoma" - "Coronaviridae infectious disease" - "Coronaviridae Infections" "Segmentation:20-25 somites" "2-(morpholin-4-yl)-8-phenyl-4H-chromen-4-one" + "Coronaviridae infectious disease" + "Coronaviridae Infections" "TAG 48:0" "locus caeruleus" "locus ceruleus" @@ -153630,10 +153638,10 @@ "blood serum ribose-phosphate pyrophosphokinase 1 amount" "blood serum bifunctional peptidase and arginyl-hydroxylase JMJD5 amount" "Mo.6C-II-" - "Split foot deformity - mandibulofacial dysostosis" - "Patterson-Stevenson syndrome" "A modified version of STRT-seq developed by Fuchou Tang's lab as described in PMID: 28457750, which enriched the 3' end of transcripts and used UMI (unique molecular identifier) for quantification." "3' STRT-seq" + "Split foot deformity - mandibulofacial dysostosis" + "Patterson-Stevenson syndrome" "6beta-[(2R)-2-amino-2-phenylacetamido]-2,2-dimethylpenam-3alpha-carboxylic acid" "Ampicillin" "isolated prothyroliberin deficiency" @@ -153664,6 +153672,8 @@ "Papillary breast cancer" "papillary carcinoma of the breast" "RMSSD" + "Inverted 8p duplication/deletion syndrome" + "Invdupdel(8p)" "early infantile epileptic encephalopathy caused by mutation in STXBP1" "epileptic encephalopathy, early infantile, 4" "EIEE4" @@ -153675,8 +153685,6 @@ "epileptic encephalopathy, early infantile, type 4" "developmental and epileptic encephalopathy 4" "Poikiloderma - alopecia - retrognathism - cleft palate" - "Inverted 8p duplication/deletion syndrome" - "Invdupdel(8p)" "blood huntingtin-interacting protein 1 amount" "trisomy 1 mosaicism" "Mosaic trisomy chromosome 1" @@ -153769,7 +153777,6 @@ "acute gonococcal prostatitis" "gonococcal prostatitis, acute" "blood serum zinc finger protein 415 amount" - "blood serum retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta amount" "hepatoid yolk sac tumor" "endodermal sinus tumour" "yolk Sac neoplasm" @@ -153782,6 +153789,7 @@ "yolk Sac tumour" "yolk Sac tumor" "hepatoid yolk sac tumour" + "blood serum retinal rod rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit delta amount" "spinach" "Spinacia oleracea0" "Spinacia oleracea L" @@ -153938,7 +153946,6 @@ "cucumbers" "cucumber" "lamina propria mucosa of small intestine" - "small bowel lamina propria mucosa" "small bowel lamina propria" "lamina propria of small bowel" "small intestine lamina propria" @@ -153949,6 +153956,7 @@ "lamina propria mucosae of small bowel" "lamina propria of mucosa of small intestine" "lamina propria mucosae of small intestine" + "small bowel lamina propria mucosa" "Epilepsy, Reflex" "reflex epilepsy" "epilepsy, sensory-induced" @@ -154108,11 +154116,11 @@ "TONGUE NEOPL" "Neoplasm, Oral" "Oral Neoplasms" + "IMNEPD2" "malignant neoplasm of sensory system" "cancer of sensory system" "sensory system cancer" "malignant sensory system neoplasm" - "IMNEPD2" "autosomal dominant hereditary disorder" "autosomal dominant disease or disorder" "disease, autosomal dominant" @@ -154127,6 +154135,12 @@ "hypogonadotropic hypogonadism caused by mutation in ANOS1" "dyssegmental dysplasia, Rolland-Desbuquois type" "testicular seminoma, cribriform variant" + "DLD deficiency" + "E3-deficient maple syrup urine disease" + "dihydrolipoamide dehydrogenase deficiency" + "pyruvate dehydrogenase E3 deficiency" + "oxoglutarate dehydrogenase deficiency" + "Alpha-ketoglutarate dehydrogenase deficiency" "Liveborn with birth asphyxia NOS (disorder)" "fetal asphyxia" "Asphyxia - birth" @@ -154150,12 +154164,6 @@ "asphyxia - birth" "Asphyxia NOS in liveborn infant" "HIE" - "DLD deficiency" - "E3-deficient maple syrup urine disease" - "dihydrolipoamide dehydrogenase deficiency" - "pyruvate dehydrogenase E3 deficiency" - "oxoglutarate dehydrogenase deficiency" - "Alpha-ketoglutarate dehydrogenase deficiency" "Adenoma, Prostatic" "Benign Hyperplasia of the Prostate" "Benign fibroma of prostate" @@ -154186,10 +154194,10 @@ "Prostatic Adenomas" "benign hypertrophy of prostate NOS" "Benign enlargement of prostate" - "benign hyperplasia of prostate" "BPH" "Prostatic Hyperplasia" "Prostatauxe" + "benign hyperplasia of prostate" "Hyperplasia of prostate" "Glandular, stromal and muscular hyperplasia of prostate gland" "Nodular hyperplasia of prostate gland" @@ -154227,9 +154235,9 @@ "CDPD" "Harboyan syndrome" "Corneal dystrophy with progressive deafness" - "Secretory diarrhoea" "sodium pentacyanidonitrosylferrate(III)" "sodium pentacyanidonitrosylferrate(2-)" + "Secretory diarrhoea" "hereditary cerebellar ataxia" "cerebellar hereditary ataxia" "(2S)-2-acetamidopentanedioate" @@ -154340,13 +154348,13 @@ "craniometaphyseal dysplasia, autosomal recessive" "DC.SIRPa+.Ad" "r8" - "Childhood ataxia with diffuse central nervous system hypomyelination" - "Myelinosis centralis diffusa" - "Leukoencephalopathy with vanishing white matter" "Osteocraniosplenic syndrome" "gracile bone dysplasia" "osteocraniostenosis" "blood serine protease inhibitor Kazal-type 5 amount" + "Childhood ataxia with diffuse central nervous system hypomyelination" + "Myelinosis centralis diffusa" + "Leukoencephalopathy with vanishing white matter" "hunting reaction" "CIVD" "(Campylobacter GIT infection (& [diarrhea] or [enteritis]) or (helicobacter gastritis)" @@ -154373,7 +154381,6 @@ "Dermacentroxenus rickettsii" "Rickettsia rickettsii (Wolbach 1919) Brumpt 1922" "blood serum coiled-coil domain-containing protein 25 amount" - "distal straight tubule" "tubulus rectus distalis" "loop of Henle ascending limb thick segment" "straight portion of distal convoluted renal tubule" @@ -154382,6 +154389,7 @@ "ascending thick limb" "thick ascending limb" "thick ascending limb of Henle's loop" + "distal straight tubule" "arthrogryposis, distal, type 1C" "DA1C" "diarrhoea type 6" @@ -154413,7 +154421,6 @@ "46,XX SEX REVERSAL 5" "SRXX5" "46,xx sex reversal 5" - "Snyder-Robinson syndrome" "EoE" "chronic esophagitis, eosinophilic" "eosinophilic esophagitis" @@ -154425,6 +154432,7 @@ "Bacillus casei e" "Caseobacterium e" "Bacillus e" + "Snyder-Robinson syndrome" "S-[2,3-bis(hexadecanoyloxy)propyl]-L-cysteinyl-L-seryl-L-lysyl-L-lysyl-L-lysyl-L-lysine" "Breast lump" "GM09581 cell" @@ -154474,10 +154482,10 @@ "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency" "blood serum caspase recruitment domain-containing protein 19 amount" "rare hypoaldosteronism" - "Hereditary benign chorea" "blood serum ubiquitin carboxyl-terminal hydrolase 21 amount" "frontonasal dysplasia type 3" "ALX1-related frontonasal dysplasia" + "Hereditary benign chorea" "blood ribokinase amount" "angiokeratoma corporis diffusum with arteriovenous fistulas" "loricrin keratoderma" @@ -154518,11 +154526,11 @@ "vaginal Mullerian adenosarcoma" "vaginal Müllerian adenosarcoma" "TAG 48:1" + "Boyes Arabidopsis Growth Stage 1.06" + "BBCH growth stage 16" "Coronavinae infectious disease" "Coronavirus Infections" "coronavirus disease" - "Boyes Arabidopsis Growth Stage 1.06" - "BBCH growth stage 16" "blood serum Phosphatidylcholine (O-16:1_20:4) amount" "Segmentation:26+ somites" "blood serum xyloside xylosyltransferase 1 amount" @@ -154591,12 +154599,12 @@ "epidermoid carcinoma of the urethra" "urethral squamous cell cancer" "squamous cell carcinoma of the urethra" + "PA1" "oral mucositis" "mouth mucosa inflammation" "stomatitis" "mucositis oral" "inflammation of mouth mucosa" - "PA1" "mixed germ cell tumor of the ovary" "mixed germ cell neoplasm of the ovary" "mixed germ cell neoplasm of ovary" @@ -154683,9 +154691,9 @@ "salmonid viral hemorrhagic septicemia" "Hemorrhagic Septicemia, Viral" "Egtved Disease" + "blood serum gephyrin amount" "Intellectual deficiency - epilepsy - endocrine disorders" "BFLS" - "blood serum gephyrin amount" "blood serum TIMELESS-interacting protein amount" "megaconial type congenital muscular dystrophy" "congenital muscular dystrophy with mitochondrial structural abnormalities" @@ -154758,8 +154766,8 @@ "mycosis fungoides (morphologic abnormality)" "mycosis fungoides, Alibert-Bazin type" "mycosis fungoides of unspecified site" - "MF" "MF" + "MF" "mycosis fungoides NOS (morphologic abnormality)" "cutaneous T-cell lymphoma/mycosis fungoides" "mycosis fungoides, unspecified site, extranodal and solid organ sites" @@ -154844,11 +154852,11 @@ "COXPD25" "(2S,3R,4S)-4-[(2S,5R,7S,8R,9S)-2-{(2S,2'R,3'S,5R,5'R)-2-ethyl-5'-[(2S,3S,5R,6R)-6-hydroxy-6-(hydroxymethyl)-3,5-dimethyltetrahydro-2H-pyran-2-yl]-3'-methyloctahydro-2,2'-bifuran-5-yl}-9-hydroxy-2,8-dimethyl-1,6-dioxaspiro[4.5]dec-7-yl]-3-methoxy-2-methylpentanoic acid" "Monensin A" + "(2S)-2-amino-4-(hydroxyphosphinyl)butanoic acid" "Orofaciodigital syndrome, Edwards type" "Oral-facial-digital syndrome type 8" "OFD8" "Oral-facial-digital syndrome, Edwards type" - "(2S)-2-amino-4-(hydroxyphosphinyl)butanoic acid" "acromesomelic dysplasia 2B" "fibular hypoplasia and complex brachydactyly" "Du Pan syndrome" @@ -155119,9 +155127,9 @@ "cerebellar capillary hemangioblastoma" "cerebellum hemangioblastoma" "hemangioblastoma of the cerebellum" + "future hypochord" "Familial multiple lentigines syndrome" "Cardiomyopathic lentiginosis" - "future hypochord" "3alpha,12alpha-dihydroxy-5beta-cholan-24-oate" "deoxycholate" "short stature, hearing loss, retinitis pigmentosa, and distinctive facies" @@ -155579,25 +155587,25 @@ "medullary plasmacytoma" "multiple myeloma/plasma cell myeloma" "Kahler's disease" + "Pseudoaldosteronism" + "Pseudohyperaldosteronism type 1" "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy" "Hereditary multi-infarct dementia" "undifferentiated gonad" "gonadal primordium" - "Pseudoaldosteronism" - "Pseudohyperaldosteronism type 1" "Alazami syndrome" "fully-elongated embryo" "Abnormality of the GI tract" "Abnormality of the gastrointestinal tract" "blood serum MAP6 domain-containing protein 1 amount" - "Rickettsia tsutsugamushi" - "Rickettsia orientalis" - "Theileria tsutsugamushi" - "Rickettsia akamushi" "primary spinal cord lymphoma" "lymphoma of the spinal cord" "lymphoma of spinal cord" "spinal cord lymphoma" + "Rickettsia tsutsugamushi" + "Rickettsia orientalis" + "Theileria tsutsugamushi" + "Rickettsia akamushi" "EEG with generalised epileptiform discharges" "Burkholderia mana" "blood serum adaptin ear-binding coat-associated protein 2 amount" @@ -155620,12 +155628,12 @@ "4th arch artery" "fourth aortic arch" "AA4" + "Teebi-Kaurah syndrome" "Del(14)(q11.2)" "chromosome 14q11-q22 deletion syndrome, isolated cases" "monosomy 14q11.2" "14q11.2 microdeletion syndrome" "chromosome 14q11-q22 deletion syndrome" - "Teebi-Kaurah syndrome" "Albright hereditary osteodystrophy-like syndrome" "monosomy 2q37-qter" "brachydactyly intellectual disability syndrome" @@ -156468,13 +156476,13 @@ "chronic cold urticaria" "cold-induced urticaria" "cold contact urticaria" - "blood serum platelet-derived growth factor subunit A amount" "atrial septal defect type 3" "atrial septal defect 3" "atrial heart septal defect type 3" "MYH6 atrial heart septal defect" "ASD3" "atrial heart septal defect caused by mutation in MYH6" + "blood serum platelet-derived growth factor subunit A amount" "Increased plasma CA125" "segmental intercostal arteries" "Kawashima-Tsuji syndrome" @@ -156807,8 +156815,8 @@ "Vascular Hemophilias" "von Willebrands Diseases" "Tibial pseudoarthrosis" - "blood serum NEDD8 protein amount" "hydrocele testis" + "blood serum NEDD8 protein amount" "Del(14)(q24.1q24.3)" "monosomy 14q24.1q24.3" "undifferentiated ovarian carcinoma" @@ -156826,7 +156834,6 @@ "AA5" "neurogenic bowel" "Neurogenic Bowel" - "Muscle fibre actin filament accumulation" "autosomal dominant mental retardation 23" "intellectual disability, autosomal dominant type 23" "intellectual developmental disorder, autosomal dominant 23" @@ -156834,6 +156841,7 @@ "autosomal dominant intellectual disability 23" "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency" "mental retardation, autosomal dominant type 23" + "Muscle fibre actin filament accumulation" "chromosome 16p13.3 duplication syndrome" "16p13.3 microduplication syndrome" "dup(16)(p13.3)" @@ -157159,9 +157167,9 @@ "VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency" "vitamin K-dependent clotting factors, combined deficiency of, 2" "vitamin K-dependent clotting factors, combined deficiency of, type 2" + "embryo late (growth) stage" "coxsackievirus infectious disease" "Coxsackievirus Infections" - "embryo late (growth) stage" "blood serum coiled-coil domain-containing protein 140 amount" "upregulation of inflammatory response" "up-regulation of inflammatory response" @@ -157192,13 +157200,14 @@ "laryngeal verrucous carcinoma" "larynx verrucous carcinoma" "Ankle Brachial Pressure Index (ABPI)" + "Index, Toe-Brachial" "Brachial Indices, Ankle" "Index, Ankle-Brachial" "Index, Toe Brachial" "Ankle-Brachial Index" "Ankle-Brachial Indices" - "Indices, Toe-Brachial" "Toe Brachial Indices" + "Indices, Toe-Brachial" "ABPI" "Brachial Index, Ankle" "Index, Ankle Brachial" @@ -157209,21 +157218,20 @@ "Brachial Indices, Toe" "ankle brachial pressure index" "Toe-Brachial Indices" - "Toe Brachial Index" "Brachial Index, Toe" + "Toe Brachial Index" "Indices, Ankle-Brachial" - "Index, Toe-Brachial" "blood serum CUE domain-containing protein 1 amount" "Spastic quadriplegia" "hyperprostaglandin E syndrome" "Bartter syndrome, furosemide type" "Bartter syndrome, furosemide-amiloride type" - "X-linked intellectual disability - seizures - short stature - midface hypoplasia" - "CRTR-D" "Secondary olfactory cortex" "Entorhinal area" "Secondary olfactory cortical area (Carpenter)" "Area 28 of Brodmann (Crosby)" + "X-linked intellectual disability - seizures - short stature - midface hypoplasia" + "CRTR-D" "Retinal vein occlusion" "retinal vein occlusion" "Occlusion, of retinal vein" @@ -157482,8 +157490,8 @@ "12-aminododecanoic acid" "large intestine carcinoma" "large intestine cancer" - "CRC" "CRC" + "CRC" "carcinoma of large bowel" "cancer of large bowel" "colorectal cancer" @@ -157685,8 +157693,8 @@ "muscle of head" "muscle organ of adult head" "head muscle organ" - "head muscle" "musculus caput" + "head muscle" "muscle organ of head" "cephalic musculature" "coagulation factor XIV" @@ -157700,9 +157708,9 @@ "ENDOVE syndrome" "Dysplastic gangliocytoma of the cerebellum" "LDD" + "blood thialysine N-epsilon-acetyltransferase amount" "Warburg-Thomsen syndrome" "Yemenite deaf-blind hypopigmentation syndrome" - "blood thialysine N-epsilon-acetyltransferase amount" "blood pantetheinase amount" "I-index" "icterus index" @@ -157752,10 +157760,10 @@ "CDG-IIg" "Carbohydrate deficient glycoprotein syndrome type IIg" "Knee pain" - "blood serum large ribosomal subunit protein P2 amount" "Erythrocyte Corpuscular Hemoglobin Concentration Distribution Width" "Corpuscular HGB Conc Distribution Width" "CHDW" + "blood serum large ribosomal subunit protein P2 amount" "Rhamphochromis 'chilingali'" "O-linoleyl-L-carnitine" "17p11.2 microduplication syndrome" @@ -157793,8 +157801,8 @@ "Keratosis palmoplantaris varians of Wachters" "Striate palmoplantar keratoderma" "Keratosis palmoplantaris striata et areata" - "parotid gland disease" "disorder of parotid gland" + "parotid gland disease" "disease or disorder of parotid gland" "parotid disorder" "disease of parotid gland" @@ -158866,8 +158874,8 @@ "anaplasmoses" "thymic malignant germ cell tumor" "mediastinal malignant germ cell tumor" - "malignant mediastinal germ cell tumour" "malignant mediastinal germ cell tumor" + "malignant mediastinal germ cell tumour" "thymic malignant germ cell tumour" "mediastinal germ cell tumor, malignant" "avian tuberculosis" @@ -159083,10 +159091,10 @@ "superficial Fibromatosis of plantar part of pes" "Dupuytren's contracture of foot" "plantar part of pes superficial Fibromatosis" - "blood serum voltage-dependent calcium channel subunit alpha-2/delta-3 amount" "polycystic kidney disease 6 with or without polycystic liver disease" "polycystic kidney disease caused by mutation in DNAJB11" "DNAJB11 polycystic kidney disease" + "blood serum voltage-dependent calcium channel subunit alpha-2/delta-3 amount" "Peripheral Blood" "PBMC" "Reticuloendothelial System, Blood" @@ -159437,8 +159445,8 @@ "mixed astrocytic-oligodendroglial neoplasm" "mixed astrocytic-oligodendroglial tumour" "mixed oligo-astrocytoma" - "MOA" "MOA" + "MOA" "glioma, mixed, benign" "WHO grade II mixed glioma" "mixed oligoastrocytoma" @@ -159515,8 +159523,8 @@ "CLS" "blood serum neurofilament heavy polypeptide amount" "skull disease" - "skull disease or disorder" "disorder of skull" + "skull disease or disorder" "disease or disorder of skull" "skull disorder" "disease of skull" @@ -159830,9 +159838,9 @@ "steatosis of liver" "fatty liver" "fatty change of liver" - "blood serum beta-defensin 110 amount" "blood serum retinoblastoma-like protein 1 amount" "JAE" + "blood serum beta-defensin 110 amount" "SeSAME syndrome" "Seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance" "neutral lipid storage disease with myopathy without ichthyosis" @@ -159843,6 +159851,11 @@ "astrocytic glia" "GM17136 cell" "Xenium" + "Beriberi" + "Beri Beri" + "thiamine deficiency" + "beriberi" + "vitamin B1 deficiency" "benign parathyroid gland neoplasm" "parathyroid tumour benign" "benign tumour of the parathyroid gland" @@ -159863,11 +159876,6 @@ "benign neoplasm of the parathyroid gland" "benign neoplasm of parathyroid" "benign neoplasm of the parathyroid" - "Beriberi" - "Beri Beri" - "thiamine deficiency" - "beriberi" - "vitamin B1 deficiency" "prolactin secreting neoplasm of the pituitary" "prolactin secreting pituitary tumor" "prolactin secreting pituitary gland tumour" @@ -160001,9 +160009,9 @@ "hereditary spastic paraplegia type 73" "autosomal dominant spastic paraplegia 73" "SPG73" - "FHR proteins measurement" "low density lipoprotein peak particle diameter measurement" "VIBOS" + "FHR proteins measurement" "dysthymic disorder" "Persistent depressive disorder" "persistent mood" @@ -160238,8 +160246,8 @@ "rhabdoid tumour of kidney" "malignant rhabdoid tumour of kidney" "kidney rhabdoid tumor" - "MRTK" "MRTK" + "MRTK" "rhabdoid neoplasm of the kidney" "rhabdoid tumour of the kidney (RTK)" "rhabdoid tumor of the kidney" @@ -160252,8 +160260,8 @@ "sterol metabolism" "tumor of mesonephric duct" "neoplasm of mesonephric duct" - "mesonephric duct neoplasm" "mesonephric tumor" + "mesonephric duct neoplasm" "Wolffian duct tumour" "mesonephric duct tumour" "tumour of mesonephric duct" @@ -160382,9 +160390,6 @@ "cerebellar neoplasm" "blood phospholipase A2 inhibitor and Ly6/PLAUR domain-containing protein amount" "Sonoda syndrome" - "Dislocated patellae" - "Dislocation of patella" - "Dislocated kneecap" "thymus sarcomatoid carcinoma" "thymic carcinosarcoma" "sarcomatoid carcinoma of Thymus" @@ -160392,6 +160397,9 @@ "thymic sarcomatoid carcinoma" "Thymus sarcomatoid carcinoma" "thymic spindle cell carcinoma" + "Dislocated patellae" + "Dislocation of patella" + "Dislocated kneecap" "GC" "malignant tumor of lesser curve of stomach" "malignant tumour of body of stomach" @@ -160543,11 +160551,11 @@ "Alphavirus caused disease or disorder" "Alphavirus infectious disease" "M14 cell" - "(2S)-3-(2-mercapto-1H-imidazol-5-yl)-2-(trimethylazaniumyl)propanoate" "Frydman-Cohen-Karmon syndrome" + "(2S)-3-(2-mercapto-1H-imidazol-5-yl)-2-(trimethylazaniumyl)propanoate" "COI" - "flower morphogenesis stage" "blood serum pyruvate carboxylase, mitochondrial amount" + "flower morphogenesis stage" "Integument" "Short stature, disproportionate short-limb" "Short stature, disproportionate short limb" @@ -161379,8 +161387,8 @@ "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency" "3-beta HSD deficiency" "osseous vascular tumour" - "vascular tumor of the bone" "osseous vascular tumor" + "vascular tumor of the bone" "bone vascular neoplasm" "vascular tumor of bone" "vascular bone neoplasm" @@ -161701,8 +161709,8 @@ "Vitamin B12 deficiency" "alveolar soft-part sarcoma" "alveolar soft part sarcoma (disease)" - "ASPS" "ASPS" + "ASPS" "adult alveolar soft part sarcoma" "adult alveolar soft Part sarcoma" "adult alveolar soft-Part sarcoma" @@ -161775,16 +161783,16 @@ "46,XY DSD due to LH resistance or LHB deficiency" "nm" "congenital muscular dystrophy-POMT1 related" - "amyotrophic lateral sclerosis caused by mutation in ALS2" - "amyotrophic lateral sclerosis 2" - "ALS2" - "ALS2 amyotrophic lateral sclerosis" - "amyotrophic lateral sclerosis 2, juvenile" "severe preeclampsia" "postpartum severe pre-eclampsia" "severe pre-eclampsia, with delivery" "antepartum severe pre-eclampsia" "Preeclampsia with severe features" + "amyotrophic lateral sclerosis caused by mutation in ALS2" + "amyotrophic lateral sclerosis 2" + "ALS2" + "ALS2 amyotrophic lateral sclerosis" + "amyotrophic lateral sclerosis 2, juvenile" "infection by Microsporida" "Microsporidia infection" "microsporidiosis" @@ -161826,6 +161834,7 @@ "disease of zone of skin" "blood Leucyl-Asparagine amount" "Caroli disease" + "L-histidyl-L-alanine" "neoplasm of granulosa cell" "granulosa cell neoplasm (disease)" "granulosa cell tumor, sarcomatoid" @@ -161836,7 +161845,6 @@ "granulosa cell tumor, adult type" "granulosa cell tumour, sarcomatoid" "granulosa cell neoplasm" - "L-histidyl-L-alanine" "blood serum leukocyte-associated immunoglobulin-like receptor 1 amount" "PC 36:2" "steroid metabolic process disease" @@ -161963,12 +161971,6 @@ "infantile Rathburn disease" "HOPS" "Septopreoptic HPE" - "SUM 185PE" - "185PE" - "SUM185" - "SUM-185PE" - "SUM-185" - "SUM 185" "Ancylostoma infectious disease" "Ancylostoma caused disease or disorder" "Ancylostoma disease or disorder" @@ -161976,6 +161978,12 @@ "Ancylostomiasis" "ancylostomiasis" "Ancylostomiasis (disorder)" + "SUM 185PE" + "185PE" + "SUM185" + "SUM-185PE" + "SUM-185" + "SUM 185" "blood serum protein FAM3A amount" "blue cone monochromacy, X-linked recessive" "colour blindness, blue monocone monochromatic type" @@ -162021,9 +162029,9 @@ "disseminated granulomatous dermatophytosis" "deep seated dermatophytosis" "deep dermatophytosis" - "pseudohypoparathyroidism Ic" "SCAR11" "Autosomal recessive spinocerebellar ataxia type 11" + "pseudohypoparathyroidism Ic" "thyroid gland follicle" "GM14474 cell" "blood serum annexin A10 amount" @@ -162114,17 +162122,17 @@ "acute lymphoblastic leukemia (disease)" "acute lymphoblastic leukaemia (disease)" "acute lymphoblastic leukemia" - "ALL" "ALL" + "ALL" "acute lymphogenous leukemia" "acute lymphoblastic leukemia (ALL)" "precursor lymphoblastic leukaemia" "precursor cell lymphoblastic leukemia" "precursor Lymphoblasic leukemia" + "infection due to Corynebacterium minutissimum" "Emesis" "Throwing up" "Vomiting" - "infection due to Corynebacterium minutissimum" "GM17292 cell" "acetic acid" "ACETIC ACID" @@ -162160,10 +162168,10 @@ "central conducting lymphatic anomaly" "lymphatic malformation 12" "LMPHM12" + "blood serum ubiquitin domain-containing protein 2 amount" "Pierre Robin sequence - congenital heart defect - talipes" "Pierre Robin syndrome - congenital heart defect - talipes" "Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava" - "blood serum ubiquitin domain-containing protein 2 amount" "Postoperative Nausea and Vomiting" "blood serum protein kinase C and casein kinase substrate in neurons protein 3 amount" "fl" @@ -162256,11 +162264,11 @@ "HFE2B" "HCC-2935" "major vestibular gland benign neoplasm" - "3beta-hydroxy-20-oxopregn-5-ene-16alpha-carbonitrile" - "pregnenolone 16alpha-carbonitrile" "Alfi syndrome" "9p deletion syndrome" "9p- syndrome" + "3beta-hydroxy-20-oxopregn-5-ene-16alpha-carbonitrile" + "pregnenolone 16alpha-carbonitrile" "Short scapulae" "Small scapulae" "Small scapula" @@ -162272,8 +162280,8 @@ "LDS6" "endometrial carcinoma (disease)" "carcinoma of endometrium" - "endometrial carcinoma" "carcinoma of the endometrium" + "endometrial carcinoma" "endometrial cancer" "endometrium carcinoma" "carcinoma, endometrial, malignant" @@ -162612,9 +162620,9 @@ "LCH" "Herbaspirillum seropedicae strain SmR1" "Herbaspirillum seropedicae str. SmR1" - "macrocephaly-intellectual disability-autism syndrome" "Ficoll gradient" "Ficoll WBC Isolation" + "macrocephaly-intellectual disability-autism syndrome" "MRSA Pneumonia" "Methicillin-Resistant Staphylococcus Aureus Pneumonia" "Methicillin-Resistant Staphylococcus aureus Pneumonia" @@ -162880,6 +162888,7 @@ "Tricuspid insufficiency" "ENDOVESLB" "Mesomelia of Lower Extremities With Hand, Foot, and Brain Anomalies" + "Syndrome X, Dysmetabolic" "Cardiovascular Syndrome, Metabolic" "Metabolic Cardiovascular Syndrome" "Reaven Syndrome X" @@ -162895,7 +162904,6 @@ "MetS" "Syndrome X, Metabolic" "Syndrome X, Insulin Resistance" - "Syndrome X, Dysmetabolic" "decadienoylcarnitine " "Takenouchi-Kosaki syndrome" "blood BPI fold-containing family B member 2 amount" @@ -163269,9 +163277,9 @@ "Congenital erythrocytosis due to erythropoietin receptor mutation" "Familial erythrocytosis" "Primary congenital erythrocytosis" - "blood serum glycine N-acyltransferase-like protein 2 amount" "Norman-Landing disease" "Infantile GM1 gangliosidosis" + "blood serum glycine N-acyltransferase-like protein 2 amount" "hypomagnesemia, seizures, and intellectual disability" "hypomagnesemia, seizures, and mental retardation" "disaccharide intolerance with minimal starch tolerance" @@ -163351,11 +163359,6 @@ "paralysis, respiratory" "hereditary prion disease" "familial prion disease" - "SUM-190PT" - "SUM-190" - "SUM 190PT" - "SUM190" - "SUM 190" "anisakiasis" "infection by Anisakis larva" "Infection by Anisakis larva (disorder) [Ambiguous]" @@ -163363,7 +163366,11 @@ "Anisakiasis" "Anisakiasis (disorder)" "Infection by Anisakis larva" - "benign tumour of Ear" + "SUM-190PT" + "SUM-190" + "SUM 190PT" + "SUM190" + "SUM 190" "benign Ear tumor" "aural neoplasms, benign" "benign Ear tumour" @@ -163373,6 +163380,7 @@ "benign neoplasm of the Ear" "benign tumour of the Ear" "benign Ear neoplasm" + "benign tumour of Ear" "blood serum clathrin heavy chain 1 amount" "nevoid basal cell cancer syndrome" "NBCCS" @@ -163474,6 +163482,14 @@ "small intestinal sarcoma" "GM14468 cell" "Say-Barber-Hobbs syndrome" + "skin eruption" + "rash|exanthema" + "exanthem (disease)" + "Rash" + "skin Rash" + "cutaneous eruption" + "exanthem" + "exanthema" "acute monocytic leukemia, morphology" "leukemia, monocytic, malignant" "AML M5" @@ -163502,14 +163518,6 @@ "hereditary acute myeloid leukemia" "Pure familial acute myeloid leukaemia" "Pure familial acute myeloid leukemia" - "skin eruption" - "rash|exanthema" - "exanthem (disease)" - "Rash" - "skin Rash" - "cutaneous eruption" - "exanthem" - "exanthema" "Recurrent inflammation of tonsils" "CSS" "leukodystrophy, hypomyelinating, 15" @@ -164003,8 +164011,8 @@ "LIVER NEOPL" "Neoplasm, hepatic" "Cancers, hepatic" - "Neoplasm, liver" "Hepatic Cancer" + "Neoplasm, liver" "Cancers, liver" "Cancer of the liver" "Cancer, liver" @@ -164119,10 +164127,10 @@ "adult spinal cord glioblastoma" "glioblastoma multiforme of spinal cord" "blood serum coagulation factor XI amount" + "blood serum ATPase family gene 2 protein homolog A amount" "clear cell adenocarcinoma of ovary" "ovarian clear cell adenocarcinoma" "ovary clear cell adenocarcinoma" - "blood serum ATPase family gene 2 protein homolog A amount" "Fredrickson type V lipaemia" "familial apolipoprotein a5 deficiency" "familial apolipoprotein A-V deficiency" @@ -164170,12 +164178,12 @@ "caecum in situ carcinoma" "caecum carcinoma in situ" "cecum carcinoma in situ" - "G361-mel" - "G361mel" - "blood serum activity-regulated cytoskeleton-associated protein amount" "SPG65" "SPG45" "Autosomal recessive spastic paraplegia type 65" + "G361-mel" + "G361mel" + "blood serum activity-regulated cytoskeleton-associated protein amount" "Syphilis, Latent" "latent syphilis" "blood serum phospholipase A1 member A amount" @@ -164458,6 +164466,7 @@ "idiopathic PAP" "idiopathic pulmonary alveolar proteinosis" "porphyria" + "chlamydiaceae infections" "pediatric osteosarcoma" "childhood osteosarcoma" "pediatric osteosarcoma (disease)" @@ -164467,16 +164476,15 @@ "childhood osteogenic sarcoma" "blood Z-DNA-binding protein 1 amount" "pelvic fins" + "colitis of indeterminate type" + "indeterminate colitis" "disorder of eyelid" "eyelid disorder" "disease or disorder of eyelid" "eyelid disease" "disease of eyelid" "eyelid disease or disorder" - "chlamydiaceae infections" "blood serum hemoglobin subunit epsilon amount" - "colitis of indeterminate type" - "indeterminate colitis" "response to mercaptopurine trait" "blood serum dual specificity mitogen-activated protein kinase kinase 5 amount" "blood serum leukosialin amount" @@ -164639,8 +164647,8 @@ "Desmoplastic small round cell tumor" "Desmoplastic small round cell tumour" "Desmoplastic small round-cell tumor" - "DSRCT" "DSRCT" + "DSRCT" "desmoplastic small round cell tumor" "Desmoplastic small round-cell tumour" "Desmoplas. small round cell tumor" @@ -164814,8 +164822,8 @@ "leiomyosarcoma of skin" "blood FYVE, RhoGEF and PH domain-containing protein 3 amount" "acute myelogenous leukemia" - "AML" "AML" + "AML" "hematopoeitic - acute Myleogenous leukaemia (AML)" "acute Nonlymphocytic leukemia" "myeloid leukemia, acute" @@ -164826,8 +164834,8 @@ "acute granulocytic leukaemia" "acute myelogenous leukaemia" "acute myeloid leukemia" - "ANLL" "ANLL" + "ANLL" "leukemia, myelocytic, acute" "myeloid leukemia, acute, M4/M4Eo subtype, somatic" "AML - acute myeloid leukemia" @@ -164997,12 +165005,12 @@ "diffuse large B-cell lymphoma of colorectum" "colorectum diffuse large B-cell lymphoma" "colorectal DLBCL" + "pre-natal developmental toxicity" "UACC.62" "mammalian vulva squamous cell neoplasm" "vulvar squamous neoplasm" "vulvar squamous tumor" "vulvar squamous tumour" - "pre-natal developmental toxicity" "Nievergelt syndrome" "calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia" "familial doughnut lesions of skull" @@ -165051,13 +165059,13 @@ "acute leukemia of ambiguous lineage" "mixed lineage acute leukaemia" "acute leukaemia of indeterminate lineage" - "SIFD syndrome" - "SIFD" + "X-linked dominant intellectual disability - epilepsy" "LADD syndrome" "Levy-Hollister syndrome" "Lacrimoauriculoradiodental syndrome" "LARD syndrome" - "X-linked dominant intellectual disability - epilepsy" + "SIFD syndrome" + "SIFD" "blood serum AP-1 complex subunit gamma-like 2 amount" "set of bones of cranium" "bones of cranium" @@ -165444,8 +165452,8 @@ "blood serum large ribosomal subunit protein mL38 amount" "autosomal dominant striatal neurodegeneration" "ADSD" - "vagina adenoma" "vaginal adenoma" + "vagina adenoma" "hybrid selection" "blood serum activin/inhibin beta A chain amount" "blood serum myelin P0 protein amount" @@ -166061,11 +166069,11 @@ "ovarian myxoid liposarcoma" "ovary myxoid liposarcoma" "myxoid liposarcoma of the ovary" - "Nivelon-Nivelon-Mabille syndrome" - "Chondrodysplasia - pseudohermaphroditism" "blood serum glutathione-requiring prostaglandin D synthase amount" "white blood cell" "leucocyte" + "Nivelon-Nivelon-Mabille syndrome" + "Chondrodysplasia - pseudohermaphroditism" "Kozlowski-Krajewska syndrome" "borderline ovarian serous neoplasm" "borderline serous tumor of the ovary" @@ -166686,8 +166694,8 @@ "malignant tumor of orbit" "malignant tumour of orbit" "cancer of orbit of skull" - "blood serum protein arginine N-methyltransferase 3 amount" "blood serum astrocytic phosphoprotein PEA-15 amount" + "blood serum protein arginine N-methyltransferase 3 amount" "blood serum insulin growth factor-like family member 3 amount" "blood serum uroplakin-3b-like protein 1 amount" "neurosecretory-motor neuron" @@ -166748,10 +166756,10 @@ "6-deoxycathasterone" "(22S)-5alpha-campestane-3beta,22-diol" "Pierre Robin sequence associated with a chromosomal anomaly" + "hereditary osteosclerosis" "acetate" "STHAG2" "tooth agenesis, selective, 2" - "hereditary osteosclerosis" "Barnes syndrome" "thoracolaryngopelvic dysplasia" "thoracopelvic dysostosis" @@ -167028,17 +167036,17 @@ "Crystalline stromal dystrophy" "Schnyder crystalline corneal dystrophy" "lateral cord surface glia" + "ML DmD16 c3" + "DmD16_c3" + "D16-c3" + "DmD16-c3" + "ML_DmD16_c3" "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome" "Cernunnos XLFD" "NHEJ1 deficiency" "Cernunnos-XLF deficiency" "combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndrome" "Cernunnos deficiency" - "ML DmD16 c3" - "DmD16_c3" - "D16-c3" - "DmD16-c3" - "ML_DmD16_c3" "GVHDS" "adult visceral muscle" "JEB2B" @@ -167096,11 +167104,11 @@ "Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1" "Jervell and Lange-Nielsen syndrome type 2" "KCNE1 Jervell and Lange-Nielsen syndrome" - "CMTDIB" "SPG69" "4-{(2R)-2-[(1S,3S,5S)-3,5-dimethyl-2-oxocyclohexyl]-2-hydroxyethyl}piperidine-2,6-dione" "cycloheximide" "Cycloheximide" + "CMTDIB" "racemose aneurysm (morphologic abnormality)" "racemose aneurysm" "racemose angioma" @@ -167486,11 +167494,11 @@ "epidermolysis bullosa hereditaria" "RGC6" "RCB2854" - "IDMDC" "Rash acneiform" "acneiform eruptions" "acneiform eruption" "acneiform dermatitis" + "IDMDC" "peripheral nerve lesion of ulnar nerve" "ulnar nerve peripheral nerve lesion" "lesion of ulnar nerve" @@ -167499,6 +167507,7 @@ "Complete or partial absence of the corpus callosum" "Agenesis/hypoplastic corpus callosum" "Hypoplasia or absence of the corpus callosum" + "DYT21" "U2-OS" "non-invasive carcinoma of breast" "non-invasive carcinoma of the breast" @@ -167522,7 +167531,6 @@ "non-infiltrating breast carcinoma" "breast carcinoma in situ" "blood serum kinesin light chain 1 amount" - "DYT21" "ipochord" "subnotochordal rod" "blood serum V-set and immunoglobulin domain-containing protein 10-like amount" @@ -167689,12 +167697,12 @@ "Male sterility due to chromosome Y deletion" "myocyte" "muscle fiber" - "head tissue" - "epicranial plate" "Diabetic Ketoacidosis" "DIABETES MELLITUS, KETOSIS-PRONE" "ketosis-prone diabetes mellitus" "diabetic ketoacidosis" + "head tissue" + "epicranial plate" "blood serum low-density lipoprotein receptor-related protein 2 amount" "adult Fanconi's syndrome" "adult Fanconi syndrome" @@ -167790,10 +167798,6 @@ "Age of onset" "Age symptoms begin" "Non-X-linked CDG with intellectual disability as a major feature" - "CMT4K" - "SURF1-related CMT4" - "Charcot-Marie-Tooth disease type 4K" - "SURF1-related severe demyelinating Charcot-Marie-Tooth disease" "SCID due to adenosine deaminase deficiency" "SCID due to ADA deficiency" "ADA" @@ -167805,19 +167809,23 @@ "adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism" "severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism" "severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency" + "CMT4K" + "SURF1-related CMT4" + "Charcot-Marie-Tooth disease type 4K" + "SURF1-related severe demyelinating Charcot-Marie-Tooth disease" "blood serum translin amount" "blood serum Ras-related protein Rab-2A amount" - "common hematopoietic tumor" "CMTMA1" "malignant melanoma of retina" - "retinal melanoma" "malignant retinal melanoma" + "retinal melanoma" "retina melanoma" "melanoma (disease) of retina" "melanoma of the retina" "melanoma of retina" "malignant melanoma of the retina" "retina melanoma (disease)" + "common hematopoietic tumor" "phosphatidylcholine 36:3" "genetic epidermal appendage anomaly" "XLTT" @@ -167863,8 +167871,8 @@ "promyelocytic leukaemia" "acute promyelocytic leukemia" "AML M3" - "APML" "APML" + "APML" "APML - acute promyelocytic leukemia" "acute promyelocytic leukaemia with t(15;17)(q22;q12); PML/rara" "AML with t(15;17)(q22;q12)" @@ -167989,10 +167997,11 @@ "hepatopancreatic ampulla adenosquamous carcinoma" "NCI-H322" "H322T" - "Agnosia" - "T.DP69+.Th" "Friend Virus B NIH" "FVB/N-Pde6b^rd1" + "Agnosia" + "T.DP69+.Th" + "LGMD due to POMK deficiency" "myotonic dystrophy caused by mutation in CNBP" "ricker syndrome" "proximal myotonic dystrophy" @@ -168000,7 +168009,6 @@ "ricker disease" "proximal myotonic myopathy" "myotonic dystrophy type 2" - "LGMD due to POMK deficiency" "blood serum UDP-glucuronosyltransferase 1-6 amount" "psychogenic amnesia" "blood reticulon-4-interacting protein 1 amount" @@ -168010,8 +168018,6 @@ "syndromic nail anomaly" "syndrome associated with nail anomaly" "blood serum late cornified envelope protein 3C amount" - "blood serum mitotic spindle assembly checkpoint protein MAD1 amount" - "benign neoplasm of the anus" "benign tumour of the anus" "benign anal neoplasm" "benign tumor of anus" @@ -168020,6 +168026,7 @@ "benign anal tumor" "anus benign neoplasm" "benign anal tumour" + "benign neoplasm of the anus" "benign urinary bladder tumour" "benign tumor of urinary bladder" "benign tumor of the urinary bladder" @@ -168031,8 +168038,8 @@ "benign bladder tumour" "urinary bladder benign neoplasm" "benign neoplasm of bladder" - "benign neoplasm of urinary bladder" "benign urinary bladder tumor" + "benign neoplasm of urinary bladder" "benign neoplasm of the bladder" "benign tumour of the bladder" "benign tumour of the urinary bladder" @@ -168042,6 +168049,7 @@ "Low number of red blood cells or haemoglobin" "Anaemia" "Low number of red blood cells or hemoglobin" + "blood serum mitotic spindle assembly checkpoint protein MAD1 amount" "blood serum large ribosomal subunit protein mL55 amount" "transplant, cornea" "keratoplasty" @@ -168295,13 +168303,13 @@ "LPE 22:6" "AP4 related intellectual disability and spastic paraplegia" "AP4 deficiency syndrome" + "blood serum ubiquitin-like modifier-activating enzyme 1 amount" "astrocytoma of diencephalon" "astrocytoma of the diencephalon" "diencephalon astrocytoma" "diencephalon astrocytoma (excluding glioblastoma)" "astrocytoma (excluding glioblastoma) of diencephalon" "diencephalic astrocytoma" - "blood serum ubiquitin-like modifier-activating enzyme 1 amount" "preaxial polydactyly type 3, unilateral" "hypomelanosis of Ito" "pigmentary mosaicism, Ito type" @@ -168315,8 +168323,8 @@ "clear cell sarcoma - kidney" "childhood kidney clear cell sarcoma" "childhood renal clear cell sarcoma" - "CCSK" "CCSK" + "CCSK" "paediatric renal clear cell sarcoma" "pediatric kidney clear cell sarcoma" "childhood clear cell sarcoma of the kidney" @@ -168336,8 +168344,6 @@ "combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia" "progressive external ophthalmoplegia with mtDNA deletions" "MKKS-related ciliopathy" - "Macular pucker" - "Premacular fibrosis" "neoplasm of vagina" "vaginal tumor" "tumor of the vagina" @@ -168351,6 +168357,8 @@ "vagina tumor" "tumour of vagina" "vaginal neoplasm" + "Macular pucker" + "Premacular fibrosis" "Jancar syndrome" "ACD-intellectual disability syndrome" "long QT syndrome type 15" @@ -168786,10 +168794,10 @@ "alimentary system" "genetic osteonecrosis" "bone necrosis of genetic origin" - "nonsyndromic polydactyly, syndactyly and/or hyperphalangy" "Nasal voice" "Hypernasal voice" "Nasal speech" + "nonsyndromic polydactyly, syndactyly and/or hyperphalangy" "acquired Fanconi syndrome" "EIEE35" "DEE35" @@ -168957,8 +168965,8 @@ "level of phosphatidylethanolamine O-16:1_18:2 in blood serum" "blood serum phosphatidylethanolamine O-16:1_18:2 amount" "non-Hodgkins lymphoma" - "NHL" "NHL" + "NHL" "non-Hodgkin's lymphoma" "non-Hodgkin lymphoma" "non-Hodgkin's lymphoma (NHL)" @@ -169018,13 +169026,13 @@ "Abyssinian mustard" "Ethiopian mustard" "blood serum transmembrane and immunoglobulin domain-containing protein 2 amount" - "SLC35A3-CDG" "Pneumonia" "(22S)-3beta,22-dihydroxy-5alpha-campestan-6-one" "cathasterone" - "TAG 54:7" + "SLC35A3-CDG" "immunoglobulin G level" "IgG level" + "TAG 54:7" "blood serum interleukin-17 receptor B amount" "blood serum primate-type serum amyloid A-4 protein amount" "Antinolo-Nieto-Borrego syndrome" @@ -169054,9 +169062,6 @@ "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15" "congenital disorder of glycosylation type 1o" "DPM3-CDG" - "Waardenburg syndrome type 1" - "WS1" - "Waardenburg syndrome type I" "tumour of the skull base" "basicranium tumor" "skull base tumor" @@ -169075,6 +169080,9 @@ "tumour of basicranium" "neoplasm of skull base" "tumor of the skull base" + "Waardenburg syndrome type 1" + "WS1" + "Waardenburg syndrome type I" "teratoma of the adult central nervous system" "teratoma of adult CNS" "adult central nervous system teratoma" @@ -169268,9 +169276,9 @@ "brachydactyly-joint dysplasia syndrome" "Liebenberg syndrome" "disease of supporting structures of teeth" - "periodontium disease or disorder" "disease or disorder of periodontium" "periodontal disorder" + "periodontium disease or disorder" "periodontium disorder" "disease of periodontium" "periodontal disease" @@ -169287,9 +169295,9 @@ "plexopathy" "nerve plexus disease or disorder" "blood serum ADP-ribosylation factor-like protein 1 amount" - "colorectal serrated adenocarcinoma" "mitral valve prolapse, myxomatous 2" "MMVP2" + "colorectal serrated adenocarcinoma" "Plasmodium falciparum (isolate 3D7)" "PLASMODIUM FALCIPARUM (ISOLATE 3D7)." "Inability to make and keep healthy fat tissue" @@ -169760,8 +169768,8 @@ "Del(8)q(13)" "mesomelia-synostoses syndrome" "Blurred vision" - "PC 32:0" "blood transaldolase amount" + "PC 32:0" "camptodactyly-overgrowth-unusual facies syndrome" "WEAVER-like syndrome" "Weaver syndrome" @@ -170080,9 +170088,9 @@ "Non-obese Diabetic" "NK.G2A+.SP" "blood serum transformer-2 protein homolog beta amount" + "Stoll-Lévy-Francfort syndrome" "N-ACETYL-L-CYSTEINE" "N-acetyl-L-cysteine" - "Stoll-Lévy-Francfort syndrome" "blood serum procollagen galactosyltransferase 2 amount" "Pseudofolliculitis barbae" "rhinoscleroma" @@ -170499,9 +170507,9 @@ "malignant neoplasm of palatine tonsil" "GM15227 cell" "blood serum beta-defensin 1 amount" - "tarsal-carpal coalition syndrome" "Chitosan" "(1->4)-2-amino-2-deoxy-beta-D-glucan" + "tarsal-carpal coalition syndrome" "HIV" "AIDS virus" "Pierson syndrome" @@ -170712,10 +170720,10 @@ "MENTAL RETARDATION, autosomal recessive 64" "Meckel syndrome type 12" "vulvar keratinizing squamous cell carcinoma" - "blood plasma interleukin-33 amount" "Dup(17)(p13.3)" "Trisomy 17p13.3" "17p13.3 duplication syndrome" + "blood plasma interleukin-33 amount" "blood coiled-coil domain-containing protein 28A amount" "3-phosphoglycerate dehydrogenase deficiency, prenatal form" "PHGDH Neu-Laxova syndrome" @@ -170827,18 +170835,18 @@ "Abnormal shape of sperm" "hyperlipidemia" "hyperlipidemia (disease)" - "response to Opdivo" "Abnormality of the toenails" "Abnormality of the toenail" - "spinocerebellar ataxia 42" - "SCA42" - "spinocerebellar ataxia type 42" "Occidental" "Caucasians" "White" "Whites" "European" "Caucasoid" + "response to Opdivo" + "spinocerebellar ataxia 42" + "SCA42" + "spinocerebellar ataxia type 42" "arginase deficiency" "argininemia" "hyperargininemia" @@ -170965,8 +170973,8 @@ "non-secretory pituitary gland adenoma" "silent pituitary gland adenoma" "non-functioning pituitary gland adenoma" - "NFPA" "NFPA" + "NFPA" "functionless adenoma of pituitary gland" "functionless pituitary adenoma" "non-functioning adenoma of the pituitary gland" @@ -171011,14 +171019,14 @@ "Carbohydrate deficient glycoprotein syndrome type IIb" "valvula cerebellum" "blood serum oligodendrocyte-myelin glycoprotein amount" - "Jones syndrome" "blood serum insulin-like growth factor-binding protein 3 amount" - "jejunal neuroendocrine neoplasm" + "Jones syndrome" "C9ORF72-related Huntington disease-like syndrome" "C9ORF72-related Huntington disease phenocopy" "C9ORF72-related Huntington's disease phenocopy" "Huntington's disease-like syndrome due to C9ORF72 expansions" "Huntington disease phenocopy due to C9ORF72 expansions" + "jejunal neuroendocrine neoplasm" "progressive diffuse palmoplantar keratoderma" "progressive diffuse PPK" "Greither disease" @@ -171456,8 +171464,8 @@ "blood laminin subunit alpha-1 amount" "High blood leucine concentration" "blood serum guanine nucleotide-binding protein G(i) subunit alpha-1 amount" - "embryonic/larval corpus allatum" "genetic osteochondrosis" + "embryonic/larval corpus allatum" "blood serum voltage-gated potassium channel KCNF1 amount" "leiomyomatous tumour" "fibroid" @@ -171755,11 +171763,11 @@ "central nervous system leukaemia (disease)" "blood serum NEDD8 ultimate buster 1 amount" "blood serum Ras-related protein Rab-33A amount" - "MDA-MB-134VI" "MDAMB134" "MDAMB134VI" "MDA-MB-134" "MDA-134" + "MDA-MB-134VI" "Streptomyces hygroscopicus var. jinggangensis" "'Streptomyces hygroscopicus subsp. jinggangensis'" "hereditary cerebral haemorrhage with amyloidosis, Iowa type" @@ -172224,8 +172232,8 @@ "unclassified pleomorphic sarcoma" "UPS" "UPS" - "MFH" "MFH" + "MFH" "adult undifferentiated pleomorphic sarcoma" "histiocytoma, fibrous, malignant" "malignant fibrous histiocytoma" @@ -172276,8 +172284,8 @@ "placenta disease or disorder" "placenta diseases" "disease or disorder of placenta" - "disorder of placenta" "disease of placenta" + "disorder of placenta" "placenta disorder" "placenta disease" "Coffin-Siris syndrome caused by mutation in SMARCA4" @@ -172317,8 +172325,8 @@ "intraepithelial neoplasia of the vulva grade 1" "blood inactive carboxypeptidase-like protein X2 amount" "B-cell lymphocytic leukaemia" - "CLL" "CLL" + "CLL" "B-CLL" "BCLL" "BCLL" @@ -172605,8 +172613,8 @@ "jejunal carcinoid tumor" "grade 1 neuroendocrine neoplasm of jejunum" "jejunum carcinoid tumour" - "jejunum neuroendocrine tumor, well differentiated, low grade" "jejunum carcinoid tumor (disease)" + "jejunum neuroendocrine tumor, well differentiated, low grade" "jejunum carcinoid tumor" "jejunum neuroendocrine neoplasm G1" "carcinoid tumour of jejunum" @@ -172739,6 +172747,8 @@ "congenital pulmonary lymphangiectasis" "Diffuse Pulmonary Lymphangiomatosis" "pulmonary lymphangiomatosis" + "papillary cystadenoma" + "cystadenoma, papillary, benign" "Incorrect relation between upper and lower dental arches" "Misalignment of upper and lower dental arches" "Malocclusion of teeth" @@ -172748,8 +172758,6 @@ "Malalignment of upper and lower dental arches" "Bilateral crossbite" "Malocclusion" - "papillary cystadenoma" - "cystadenoma, papillary, benign" "(1->3)-beta-D-glucopyranan" "blood serum 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 amount" "genochondromatosis" @@ -172907,9 +172915,9 @@ "distal duplication 7p" "broadband ultrasound attenuation" "bone quantitative ultrasound" + "GM17258 cell" "coenzyme Q10 deficiency, primary, type 7" "COQ4-related neonatal encephalomyopathy" - "GM17258 cell" "blood coiled-coil and C2 domain-containing protein 1A amount" "Decreased vibratory sense in the lower extremities" "Distal vibratory impairment of the lower limbs" @@ -173103,8 +173111,8 @@ "GLYOXYLIC ACID" "oxoacetic acid" "blood serum calcium-binding protein 39-like amount" - "RCC" "RCC" + "RCC" "renal cell carcinoma (disease)" "kidney adenocarcinoma" "hypernephroma" @@ -173307,13 +173315,12 @@ "idiopathic and/or familial pulmonary arterial hypertension" "pulmonary hypertension, primary, type 1" "IFPAH" + "Monosomy 15q11.2" + "Del(15)(q11.2)" "blood serum tryptophan--tRNA ligase, mitochondrial amount" "occlusion and stenosis of carotid artery" "carotid artery segment occlusion precerebral artery" "occlusion precerebral artery of carotid artery segment" - "Monosomy 15q11.2" - "Del(15)(q11.2)" - "U3118" "dental disorder" "calcareous tooth disease" "calcareous tooth disease or disorder" @@ -173323,6 +173330,7 @@ "disease or disorder of calcareous tooth" "dental disease" "disorder of calcareous tooth" + "U3118" "arthrocutaneouveal granulomatosis" "Blau syndrome" "paediatric granulomatous arthritis" @@ -173848,8 +173856,8 @@ "H-2009" "NCIH2009" "blood serum immunoglobulin heavy constant alpha 1 amount" - "WXS" "WDM" + "WXS" "ARMD4" "macular Degeneration, age-related, type 4" "CFH age-related macular degeneration" @@ -174236,11 +174244,11 @@ "splenic abscess" "blood serum histone deacetylase complex subunit SAP18 amount" "blood serum beta-defensin 106 amount" + "blood serine/threonine-protein kinase LATS1 amount" "pediatric central nervous system immature teratoma" "paediatric central nervous system immature teratoma" "childhood central nervous system immature teratoma" "central nervous system immature teratoma of childhood" - "blood serine/threonine-protein kinase LATS1 amount" "Montelukast" "MONTELUKAST" "{1-[({(1R)-1-{3-[(E)-2-(7-chloroquinolin-2-yl)ethenyl]phenyl}-3-[2-(2-hydroxypropan-2-yl)phenyl]propyl}sulfanyl)methyl]cyclopropyl}acetic acid" @@ -174272,8 +174280,8 @@ "oculoectodermal syndrome" "oculoectodermal syndrome, somatic" "aplasia cutis congenita-epibulbar dermoids syndrome" - "blood cornulin amount" "2-aminooctanoate" + "blood cornulin amount" "CE 18:2" "Increased plasma ACTH" "Increased circulating ACTH level" @@ -174560,7 +174568,6 @@ "granular cell neoplasm of the heart" "granular cell tumor of heart" "granular cell tumour of the heart" - "blood serum ornithine transcarbamylase, mitochondrial amount" "distal hereditary motor neuropathy type 6" "diaphragmatic spinal muscular atrophy" "dSMA1" @@ -174578,6 +174585,7 @@ "SMARD1" "autosomal recessive distal spinal muscular atrophy 1" "spinal muscular atrophy, distal, autosomal recessive, type 1" + "blood serum ornithine transcarbamylase, mitochondrial amount" "blood MHC class II histocompatibility antigen alpha chain DRA amount" "leiomyosarcoma of the uterine body" "leiomyosarcoma of the uterine corpus" @@ -174681,6 +174689,7 @@ "Tricho-hepato-enteric syndrome" "Syndromatic diarrhea" "SD/THE" + "Cryptophthalmos-syndactyly syndrome" "smoldering plasma cell myeloma" "smouldering multiple myeloma" "asymptomatic myeloma" @@ -174690,7 +174699,6 @@ "smouldering Multiple myeloma/plasma cell myeloma" "smouldering myeloma" "asymptomatic plasma cell myeloma" - "Cryptophthalmos-syndactyly syndrome" "Toriello syndrome" "Lassa fever" "LF" @@ -174811,11 +174819,11 @@ "mammalian vulva eccrine carcinoma" "vulvar eccrine adenocarcinoma" "eccrine carcinoma of mammalian vulva" + "protein adhesion measurement" "Oxyhemoglobin/Total Hemoglobin" "HBOXHGB" "blood serum interleukin-28 receptor alpha chain amount" "Granular corneal dystrophy type II" - "protein adhesion measurement" "junctional epidermolysis bullosa" "epidermolysis bullosa atrophicans" "JEB" @@ -174999,11 +175007,11 @@ "blood serum dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial amount" "age disease symptoms begin" "age at onset of disease" - "blood serum ankyrin repeat domain-containing protein 1 amount" "chondroma of soft parts" "extraskeletal chondroma" "soft tissue chondroma" "extraskeletal osteochondroma" + "blood serum ankyrin repeat domain-containing protein 1 amount" "EDS, vascular-like type" "clinical_treatment" "clinical treatment" @@ -175242,8 +175250,8 @@ "blood serum retrotransposon Gag-like protein 6 amount" "GM14568 cell" "central giant cell reparative granuloma of jaw" - "GCLSB" "GCLSB" + "GCLSB" "giant cell reparative granuloma" "giant cell lesion of small bones" "central giant cell (reparative) granuloma" @@ -175385,6 +175393,7 @@ "LAPC9" "HCC-15" "inherited cardiac arrthythmia" + "Braddock-Carey syndrome" "fracture-related traits" "congenital bile acid synthesis defect type 5" "bile acid synthesis defect, congenital, type 5" @@ -175393,7 +175402,6 @@ "CBAS5" "ABCD3 congenital bile acid synthesis defect" "GM17256 cell" - "Braddock-Carey syndrome" "blood lysosomal acid glucosylceramidase amount" "blood serum Jun dimerization protein 2 amount" "blood serum apolipoprotein L2 amount" @@ -176092,11 +176100,11 @@ "blood serum methylated-DNA--protein-cysteine methyltransferase amount" "atypical HCS" "Medrano-Roldan syndrome" - "Capsularis" - "Ristella" "leiomyosarcoma of mammalian vulva" "vulvar leiomyosarcoma" "mammalian vulva leiomyosarcoma" + "Capsularis" + "Ristella" "blood serum DNA-binding protein SATB1 amount" "Extreme sensitivity of the eyes to light" "Photodysphoria" @@ -176231,8 +176239,8 @@ "blood serum annexin A3 amount" "primary central nervous system lymphoma" "primary brain lymphoma" - "PCNSL" "PCNSL" + "PCNSL" "malignant lymphomas of CNS" "malignant lymphomas of the CNS" "central nervous system lymphoma" @@ -176296,14 +176304,14 @@ "paraphimosis" "Paraphimosis (disorder)" "Paraphimosis" - "allergic form of urticaria" - "allergic urticaria (disease)" - "allergic form of urticaria (disease)" - "allergic urticaria" "colleterial gland" "female AcGl" "parovarium" "appendicular gland" + "allergic form of urticaria" + "allergic urticaria (disease)" + "allergic form of urticaria (disease)" + "allergic urticaria" "OPTB" "autosomal recessive osteopetrosis" "osteopetrosis (disease), autosomal recessive" @@ -177029,10 +177037,10 @@ "DC.103-11b+.Lv" "relaxation of vascular smooth muscle" "vascular smooth muscle relaxation" + "blood serum slit homolog 1 protein amount" "Tibia vara Blount" "Osteochondrosis deformans tibiae" "Infantile tibia vara" - "blood serum slit homolog 1 protein amount" "TNDM" "transient neonatal diabetes mellitus (disease)" "transient neonatal diabetes mellitus" @@ -177639,6 +177647,10 @@ "partial deletion of chromosome type 11" "Coarse hair" "Coarse hair texture" + "villous adenoma of the appendix" + "vermiform appendix villous adenoma" + "appendix villous adenoma" + "villous adenoma of appendix" "antepartum oligohydramnios" "oligohydramnios (disease)" "oligohydramnios" @@ -177661,10 +177673,6 @@ "cancer of uterus" "cancer of the uterus" "malignant uterine tumour" - "villous adenoma of the appendix" - "vermiform appendix villous adenoma" - "appendix villous adenoma" - "villous adenoma of appendix" "ug/ml" "blood ADAMTS-like protein 5 amount" "2-deoxy-2-{[methyl(nitroso)carbamoyl]amino}-alpha-D-glucopyranose" @@ -178408,6 +178416,9 @@ "Structural abnormality of the chest wall" "Abnormality of the chest" "Abnormality of the thorax" + "blood serum tectonic-2 amount" + "Populus tremula L." + "European aspen" "carcinoma of the adrenal cortex" "malignant adrenocortical tumor" "adrenal cortical adenocarcinoma" @@ -178429,9 +178440,6 @@ "cancer of the adrenal cortex" "adrenal cortical carcinoma (morphologic abnormality)" "adenocarcinoma, adrenocortical, malignant" - "blood serum tectonic-2 amount" - "Populus tremula L." - "European aspen" "spinal cord meningioma (disease)" "meningioma of spinal cord" "spinal cord meningioma" @@ -178510,14 +178518,14 @@ "hydrogen 2-hydroxypentanedioate" "diabetes mellitus, insulin-dependent, neonatal" "pancreatic beta cell agenesis with neonatal diabetes mellitus" - "Maxillary Sinusitis" - "maxillary sinusitis" "atypical lobular hyperplasia of the breast" "atypical lobular breast hyperplasia" "ALH" "atypical lobular hyperplasia of breast" "atypical lobular hyperplasia" "atypical breast lobular hyperplasia" + "Maxillary Sinusitis" + "maxillary sinusitis" "epithelium transitionale" "uroepithelium" "transitional epithelium" @@ -178698,6 +178706,7 @@ "ALSP" "HDLS" "benign pancreatic tumour" + "benign tumour of pancreas" "benign tumor of pancreas" "benign pancreatic neoplasm" "pancreatic neoplasm, benign" @@ -178712,7 +178721,6 @@ "benign tumor of the pancreas" "pancreas neoplasm, benign" "benign tumour of the pancreas" - "benign tumour of pancreas" "blood serum 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase 9 amount" "hereditary pheochromocytoma-paraganglioma" "familial pheochromocytoma-paraganglioma" @@ -178751,9 +178759,9 @@ "cystadenofibroma of fallopian tube" "Kif-5" "response to immunosuppressive agent" + "blood serum Phosphatidylinositol (18:1_18:2) amount" "MC4DN14" "mitochondrial complex IV deficiency, nuclear type 14" - "blood serum Phosphatidylinositol (18:1_18:2) amount" "blood serum UPF0696 protein C11orf68 amount" "nose" "chemosensory sensory organ" @@ -179202,11 +179210,11 @@ "Gaucher-like disease" "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" "Gaucher disease type 3C" - "Pierre Robin sequence associated with collagen disease" "presbycusis" "age-related hearing loss" "age-related hearing impairment" "ARHI" + "Pierre Robin sequence associated with collagen disease" "Zlotogora-Ogur syndrome" "Zlotogora-Zilberman-Tenenbaum syndrome" "cleft lip/palate-ectodermal dysplasia syndrome" @@ -179253,18 +179261,19 @@ "statoacoustic ganglion" "statoacoustic (VIII) ganglion" "auditory ganglion" - "acrorenal syndrome" "ovarian Wilms' tumor" "ovarian Wilms tumor" "ovarian Wilms' tumour" "ovary Wilms tumor" "ovary Wilms tumour" + "acrorenal syndrome" "Iran (Islamic Republic of)"@en "Iran (Islamic Republic of)" "chromosome Xq28 duplication syndrome" "blood serum FAS-associated death domain protein amount" "blood serum ubiquitin thioesterase ZRANB1 amount" "blood dynamin-binding protein amount" + "GRO:0005811" "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms" "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, or FGFR1" "myeloid and lymphoid neoplasms with eosinophilia and rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2" @@ -179272,7 +179281,6 @@ "myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1" "myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2" "myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement" - "GRO:0005811" "Trypanosoma disease or disorder" "Trypanosoma infectious disease" "trypanosomiasis" @@ -179337,6 +179345,8 @@ "cellular secretion" "PEPCK1 deficiency" "blood YTH domain-containing family protein 3 amount" + "soluble P-selectin level" + "sP-selectin" "glutamate pyruvate transaminase 2 deficiency" "mental retardation, autosomal recessive type 49" "MRT49" @@ -179345,8 +179355,6 @@ "postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome" "GPT2 deficiency" "mental retardation, autosomal recessive 49" - "soluble P-selectin level" - "sP-selectin" "blood tyrosine-protein kinase receptor UFO amount" "blood FAD-linked sulfhydryl oxidase ALR amount" "SSPCS" @@ -180172,8 +180180,8 @@ "TAG 58:8" "stage 0 cardia of stomach carcinoma" "cardia of stomach carcinoma in situ" - "gastric cardia carcinoma in situ" "stage 0 gastric cardia carcinoma" + "gastric cardia carcinoma in situ" "carcinoma in situ of the gastric cardia" "carcinoma in situ of cardia of stomach" "gastric cardia carcinoma in situ aJCC v6 and v7" @@ -180287,6 +180295,14 @@ "vitamin D-dependent rickets, type 1A" "Stalker-Chitayat syndrome" "rac-N(4)-{2,6-dimethoxy-4-methyl-5-[3-(trifluoromethyl)phenoxy]quinolin-8-yl}pentane-1,4-diamine" + "nut midline carcinoma" + "carcinoma with t(15;19)(q13;p13.1) translocation" + "Midline carcinoma of children and Young adults with NUT rearrangement" + "nuclear protein in testis midline carcinoma" + "NMC" + "NMC" + "NUT carcinoma" + "NUT Midline carcinoma" "herpes zoster ophthalmicus" "Herpes zoster with other ophthalmic complication (disorder)" "Ophthalmic herpes zoster infection" @@ -180296,14 +180312,6 @@ "Herpes zoster with ophthalmic complication (disorder)" "Herpes zoster ophthalmicus (disorder)" "Herpes Zoster Ophthalmicus" - "nut midline carcinoma" - "carcinoma with t(15;19)(q13;p13.1) translocation" - "Midline carcinoma of children and Young adults with NUT rearrangement" - "nuclear protein in testis midline carcinoma" - "NMC" - "NMC" - "NUT carcinoma" - "NUT Midline carcinoma" "HMN5A" "spinal muscular atrophy, distal, type 5A" "neuropathy, distal hereditary motor, type 5A" @@ -180791,8 +180799,8 @@ "chalazion" "meibomian gland lipogranuloma" "Chalazion" - "axonal neuropathy" "axon peripheral neuropathy" + "axonal neuropathy" "peripheral neuropathy of axon" "age cancer symptoms begin" "age at onset of cancer" @@ -181023,9 +181031,9 @@ "mesoblastic nephroma (morphologic abnormality)" "Mesoblastic nephroma (morphologic abnormality)" "chromosome 17P13.3, telomeric, duplication syndrome" - "blood alpha-1-acid glycoprotein 1 amount" "Hemoglobin E/Total Hemoglobin" "HGBEHGB" + "blood alpha-1-acid glycoprotein 1 amount" "California mussel" "Abnormality of the abdominal wall" "Abnormality of external features of the abdomen" @@ -181035,14 +181043,14 @@ "choreatic disease" "choreia" "benign familial chorea" + "cardiac tamponade" + "pericardial tamponade" + "rose's tamponade" "undifferentiated esophageal carcinoma" "oesophagus undifferentiated carcinoma" "esophagus undifferentiated carcinoma" "undifferentiated esophageal cancer" "esophageal undifferentiated carcinoma" - "cardiac tamponade" - "pericardial tamponade" - "rose's tamponade" "cystinosis" "cystine storage disease" "Protein defect of cystin transport" @@ -181221,8 +181229,8 @@ "calcium pyrophosphate deposition disease" "composite lymphoma" "composite Hodgkin and non-Hodgkin lymphoma" - "blood serum endogenous retrovirus group V member 1 Env polyprotein amount" "idiopathic aplastic anemia" + "blood serum endogenous retrovirus group V member 1 Env polyprotein amount" "GM15324 cell" "anatomical wall of stomach" "ventriculus wall" @@ -181341,11 +181349,11 @@ "ARMD11" "TKT deficiency" "short stature-developmental delay-congenital heart defect syndrome" + "TAG 58:9" "MRD72" "autosomal dominant intellectual developmental disorder-72" "SRRM2-related neurodevelopmental disorder" "developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome" - "TAG 58:9" "dengue virus, susceptibility to" "4-hydroxy-3-methoxybenzoate" "vanillate" @@ -181507,8 +181515,8 @@ "sarcoma of the meninges" "meningeal cluster sarcoma" "meninges sarcoma" - "sarcoma of meninges" "meningeal sarcoma" + "sarcoma of meninges" "sarcoma of meningeal cluster" "Tiedemann's gland" "Bartholin's gland" @@ -181682,12 +181690,12 @@ "oral submucosal fibrosis, including of tongue" "OSMF" "OSMF" - "cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome" - "Holzgreve Wagner Rehder syndrome" - "Holzgreve syndrome" "Lipodystrophy - Rieger anomaly - diabetes" "Rieger anomaly - partial lipodystrophy" "Aarskog-Ose-Pande syndrome" + "cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome" + "Holzgreve Wagner Rehder syndrome" + "Holzgreve syndrome" "Charcot-Marie-Tooth disease type 4 caused by mutation in HK1" "HK1 Charcot-Marie-Tooth disease type 4" "hereditary motor and sensory neuropathy Russe type" @@ -181801,9 +181809,9 @@ "melanocytic tumour of CNS" "central nervous system melanocytic tumor" "melanocytic tumour of the central nervous system" + "melanocytic tumour of the CNS" "central nervous system melanocytic tumour" "CNS melanocytic tumour" - "melanocytic tumour of the CNS" "melanocytic tumour of central nervous system" "GRO:0005361" "neoplasm of the orbit" @@ -181819,8 +181827,8 @@ "orbital tumor" "orbit tumor" "neoplasm of orbit" - "orbital neoplasms" "tumour of orbit of skull" + "orbital neoplasms" "tumour of orbit" "tumour of the orbit" "orbit tumour" @@ -182034,6 +182042,7 @@ "adult spinal cord ependymoma" "blood serum MHC class II histocompatibility antigen gamma chain amount" "HBs IgG measurement" + "immune system organ" "Phosphomannomutase 2 deficiency" "CDG-Ia" "CDG syndrome type Ia" @@ -182041,7 +182050,6 @@ "Carbohydrate deficient glycoprotein syndrome type Ia" "Congenital disorder of glycosylation type Ia" "Congenital disorder of glycosylation type 1a" - "immune system organ" "ring trophozoite stage" "spinocerebellar ataxia type 8" "SCA8" @@ -182054,8 +182062,8 @@ "Capra-DeMarco syndrome" "iron transport" "blood serum junctophilin-3 amount" - "OFMT" "OFMT" + "OFMT" "ossifying fibromyxoma" "ossifying fibromyxoid tumor" "ossifying fibromyxoid tumor (morphologic abnormality)" @@ -182242,6 +182250,9 @@ "autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1" "classic 21-OHD CAH, salt wasting form" "Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome" + "Partial trisomy of chromosome 9p" + "Partial duplication of the short arm of chromosome 9" + "Partial duplication of chromosome 9p" "malignant neoplasm of the small intestine" "malignant neoplasm of small bowel" "malignant small bowel tumour" @@ -182263,9 +182274,6 @@ "malignant tumour of the small intestine" "malignant small intestine neoplasm" "malignant tumour of small bowel" - "Partial trisomy of chromosome 9p" - "Partial duplication of the short arm of chromosome 9" - "Partial duplication of chromosome 9p" "constitutional rare deficiency anaemia" "constitutional rare deficiency anemia" "carcinoid tumour of ileum" @@ -182496,14 +182504,14 @@ "agenesis of corpus callosum, cardiac, ocular, and genital syndrome" "AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME" "ACOGS" - "pituitary gland apoplexy" - "pituitary apoplexy" - "Pituitary Apoplexy" - "Pituitary apoplexy (disorder)" "ischemic disease of retina" "retina ischaemic disease" "ischaemic disease of retina" "retina ischemic disease" + "pituitary gland apoplexy" + "pituitary apoplexy" + "Pituitary Apoplexy" + "Pituitary apoplexy (disorder)" "trophoblast layer" "blood cadherin-related family member 2 amount" "Werdnig-Hoffmann Disease" @@ -182797,8 +182805,8 @@ "Peripheral Nerve Neoplastic Infiltration" "Nerve Neoplasms, Peripheral" "tumour of the peripheral nerve" - "neoplasm of the PNS" "Peripheral Nerve Neoplasms, Malignant" + "neoplasm of the PNS" "tumor of peripheral nervous system" "PNS neoplasms" "Peripheral Nervous System Malignant Neoplasms" @@ -183128,8 +183136,8 @@ "bladder clear cell adenocarcinoma" "bladder mesonephric adenocarcinoma" "urinary bladder clear cell adenocarcinoma" - "Charcot-Marie-Tooth disease, dominant intermediate G" "asthma, nocturnal, susceptibility to" + "Charcot-Marie-Tooth disease, dominant intermediate G" "Hodgkin's lymphoma of the spleen" "splenic Hodgkin's disease" "primary splenic Hodgkin's lymphoma" @@ -183186,15 +183194,15 @@ "blood serum leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 3 amount" "Halal syndrome" "blood serum pregnancy zone protein amount" - "myopathy, tubular aggregate, 2" - "tubular aggregate myopathy caused by mutation in ORAI1" - "myopathy, tubular aggregate, type 2" - "ORAI1 tubular aggregate myopathy" "arthritides" "skeletal joint inflammation" "inflammation of skeletal joint" "arthritis" "arthritic joint disease" + "myopathy, tubular aggregate, 2" + "tubular aggregate myopathy caused by mutation in ORAI1" + "myopathy, tubular aggregate, type 2" + "ORAI1 tubular aggregate myopathy" "2,3-bis(acyloxy)propyl 2-(trimethylammonio)ethyl phosphate" "HPV-related penile squamous cell carcinoma" "human papillomavirus-related penile squamous cell carcinoma" @@ -183344,8 +183352,8 @@ "ovarian small cell cancer" "ovary small cell carcinoma" "small cell ovarian carcinoma" - "SCCO" "SCCO" + "SCCO" "small cell carcinoma of the ovary" "small cell carcinoma of ovary" "ovarian small cell carcinoma" @@ -183382,12 +183390,12 @@ "carcinoma of the eyelid" "HIBM4" "blood serum procollagen galactosyltransferase 1 amount" - "ALT" "ALT" + "ALT" "well-differentiated liposarcoma" "well differentiated liposarcoma of deep soft tissue" - "WDLS" "WDLS" + "WDLS" "well differentiated liposarcoma" "atypical lipoma" "atypical lipomatous tumor" @@ -183695,8 +183703,8 @@ "testicular granulosa cell tumor" "testis granulosa cell tumour" "blood serum protein phosphatase methylesterase 1 amount" - "CTCL" "CTCL" + "CTCL" "primary cutaneous T-cell non-Hodgkin lymphoma" "T-cell non-Hodgkin's lymphoma of the skin" "cutaneous T-cell non-Hodgkin lymphoma" @@ -183706,8 +183714,8 @@ "T-cell non-Hodgkin's lymphoma of skin" "cutaneous T-cell non-Hodgkin's lymphoma" "cutaneous T-cell lymphoma" - "skin T-cell non-Hodgkin's lymphoma" "primary cutaneous T-cell non-Hodgkin's lymphoma" + "skin T-cell non-Hodgkin's lymphoma" "3-mercaptopyruvate sulfurtransferase deficiency" "Ampola syndrome" "inborn aspartate family amino acid metabolic process disorder" @@ -184113,8 +184121,8 @@ "myopathy, mitochondrial progressive, with congenital cataract and developmental delay" "sublingual gland tumour" "tumor of the sublingual gland" - "sublingual gland neoplasm (disease)" "neoplasm of the sublingual gland" + "sublingual gland neoplasm (disease)" "neoplasm of sublingual gland" "tumor of sublingual gland" "sublingual gland tumor" @@ -184185,8 +184193,8 @@ "FSH dystrophy" "Facioscapulohumeral myopathy" "dysembryoplastic neuroepithelial tumor" - "DNET" "DNET" + "DNET" "dysembryoplastic neuroepithelial tumour (morphologic abnormality)" "DNT" "DNT" @@ -184373,8 +184381,8 @@ "gallbladder adenoma" "blood cell cycle exit and neuronal differentiation protein 1 amount" "blood serum calcium-binding protein 8 amount" - "blood Ras-related protein R-Ras amount" "(2R)-2-{[(9Z,12Z)-octadeca-9,12-dienoyl]oxy}-3-(tetradecanoyloxy)propyl 2-(trimethylazaniumyl)ethyl phosphate" + "blood Ras-related protein R-Ras amount" "blood protein PAXX amount" "10X 5' v3" "mouse embryonic stage" @@ -184461,6 +184469,7 @@ "interstitial nucleus of stria terminalis" "bed nuclei of the stria terminalis" "nucleus of stria terminalis" + "Hepatic ductopenia" "femoral cancer" "neoplasm of femur" "cancer of femur" @@ -184468,7 +184477,6 @@ "Femoral Neoplasms" "femur cancer" "malignant neoplasm of femur" - "Hepatic ductopenia" "movement disorders" "movement disorder" "movement disease" @@ -184496,12 +184504,12 @@ "immunodeficiency 15B" "SCID due to IKK2 deficiency" "immunodeficiency type 15" + "PEX13 related Zellweger spectrum disorder" + "peroxisome biogenesis disorder due to PEX13 defect" "Mononegavirales caused disease or disorder" "Mononegavirales infectious disease" "Mononegavirales Infections" "Mononegavirales disease or disorder" - "PEX13 related Zellweger spectrum disorder" - "peroxisome biogenesis disorder due to PEX13 defect" "blood serum serpin H1 amount" "5-fluoropyrimidine-2,4(1H,3H)-dione" "5-fluorouracil" @@ -184623,12 +184631,12 @@ "aneurysm of coronary vessels" "extracellular space of host" "interbranchial IV" + "blood serum EMI domain-containing protein 1 amount" "panniculus adiposus telae subcutaneae" "panniculus adiposus (tela subcutanea)" "subcutaneous fat layer" "fatty layer of subcutaneous tissue" "hypodermis fat layer" - "blood serum EMI domain-containing protein 1 amount" "BTI-TN-5B1-4" "Tn 5B1-4" "myopathy caused by mutation in FKRP" @@ -185122,8 +185130,8 @@ "Respiratory distress requiring mechanical ventilation" "Respiratory distress requiring endotracheal intubation" "sense organ system organ" - "sensory system organ" "sensory organ" + "sensory system organ" "organ of sense organ system" "sensory organ system organ" "organ of sensory organ system" @@ -185244,8 +185252,8 @@ "well differentiated liposarcoma" "well differentiated liposarcoma of superficial soft tissue" "atypical lipomatous tumor" - "ALT" "ALT" + "ALT" "superficial well differentiated liposarcoma" "lipoma-like liposarcoma" "Atypical lipoma" @@ -185321,11 +185329,11 @@ "Thyroiditis, Suppurative" "Infectious thyroiditis (disorder)" "acute suppurative thyroiditis (disorder)" - "Trisomy 2q31.1" - "Dup(2)(q31.1)" "PCH" "Pontoneocerebellar atrophy" "Pontoneocerebllar hypoplasia" + "Trisomy 2q31.1" + "Dup(2)(q31.1)" "Monosomy 17q12" "Del(17)(q12)" "body mass index QTL16" @@ -185601,8 +185609,8 @@ "Vas deferens" "vasa deferentia" "organ harvesting" - "alcoholic pancreatitis" "VPED" + "alcoholic pancreatitis" "PEX14 related Zellweger spectrum disorder" "peroxisome biogenesis disorder due to PEX14 defect" "Hornstein-Knickenberg syndrome" @@ -186080,8 +186088,8 @@ "chronic atrial dysrhythmia-intestinal motility disorder" "chronic atrial and intestinal dysrhythmia" "caid syndrome" - "7-chloro-4-hydroxyquinoline-2-carboxylic acid" "TCM type" + "7-chloro-4-hydroxyquinoline-2-carboxylic acid" "blood eukaryotic translation initiation factor 2 subunit 2 amount" "blood serum SLIT-ROBO Rho GTPase-activating protein 2 amount" "blood serum Max-like protein X amount" @@ -186359,6 +186367,10 @@ "neurodegenerative disease of cerebellum" "cerebellar degeneration" "cerebellar Degeneration" + "Decreased volume of lip" + "Decreased volume of lip vermillion" + "Thin vermillion" + "Thin lips" "secondary hypertrophic osteoarthropathy" "Bamberger-Marie disease" "hypertrophic pulmonary osteoarthropathy (disorder) [ambiguous]" @@ -186368,10 +186380,6 @@ "hypertrophic pulmonary osteoarthropathy (disorder) [Ambiguous]" "HPOA - hypertrophic pulmonary osteoarthropathy" "hypertrophic pulmonary osteoarthropathy" - "Decreased volume of lip" - "Decreased volume of lip vermillion" - "Thin vermillion" - "Thin lips" "candidiasis, familial, 4" "candidiasis, familial, type 4" "CLEC7A familial chronic mucocutaneous candidiasis" @@ -186735,8 +186743,8 @@ "carcinoma of the kidney collecting duct" "carcinoma of collecting duct of renal tubule" "renal collecting duct carcinoma" - "BDC" "BDC" + "BDC" "Bellini carcinoma" "collecting duct of renal tubule carcinoma" "kidney collecting duct carcinoma" @@ -186854,11 +186862,11 @@ "blood serum mediator of RNA polymerase II transcription subunit 20 amount" "auriculo-condylar syndrome" "question mark ear syndrome" - "PEX16 related Zellweger spectrum disorder" - "peroxisome biogenesis disorder due to PEX16 defect" "adenocarcinoma arising in Barrett's mucosa" "Barrett adenocarcinoma" "Barrett's adenocarcinoma" + "PEX16 related Zellweger spectrum disorder" + "peroxisome biogenesis disorder due to PEX16 defect" "RAD51 Fanconi anemia" "Fanconi anaemia complementation group type R" "Fanconi Anemia, complementation group type R" @@ -187001,10 +187009,10 @@ "Th9" "T(H)-9 cell" "T helper cells type 9" - "blood serum derlin-1 amount" "vitamin A deficiency (disease)" "vitamin A deficiency" "Vitamin A Deficiency" + "blood serum derlin-1 amount" "CAL-51" "blood serum ELAV-like protein 2 amount" "cardiac rhabdomyoma (disease)" @@ -187255,9 +187263,9 @@ "GS3" "Griscelli-Pruni��ras syndrome type 3" "blood serum transcription initiation factor TFIID subunit 12 amount" - "retinohepatoendocrinologic syndrome" "Increased echogenicity of the renal parenchyma" "Echogenic kidneys" + "retinohepatoendocrinologic syndrome" "blood serum glutathione peroxidase 2 amount" "blood serum ADP-ribosylhydrolase ARH1 amount" "L-methionyl-L-alanine" @@ -187369,9 +187377,9 @@ "blood plasm" "blood N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 amount" "TAG 50:3" - "SM 22:1" "typhasterol" "(3alpha,5alpha,22R,23R,24S)-3,22,23-trihydroxyergostan-6-one" + "SM 22:1" "GM17107 cell" "uterine smooth muscle" "Human Herpes Virus 8 Infection" @@ -187420,16 +187428,16 @@ "malignant tumor of uterine endocervix" "malignant endocervical tumor" "macrodactyly of hand" - "fetus/embryo hypoxia" - "embryo/fetus hyposia" - "intrauterine hypoxia" - "embryo hypoxia" "blood serum nuclear protein MDM1 amount" "cardiomyopathy, dilated, type 1Hh" "BAG3 familial isolated dilated cardiomyopathy" "CMD1HH" "familial isolated dilated cardiomyopathy caused by mutation in BAG3" "dilated cardiomyopathy type 1HH" + "fetus/embryo hypoxia" + "embryo/fetus hyposia" + "intrauterine hypoxia" + "embryo hypoxia" "age systemic lupus erythematosus symptoms begin" "age at onset of systemic lupus erythematosus" "blood serum protocadherin beta-10 amount" @@ -187521,10 +187529,10 @@ "carbamazepine-induced hyponatraemia" "carbamazepine induced hyponatremia" "carbamazepine induced hyponatraemia" + "attenuated hypophosphatasia" "Monosomy 6q16" "Prader-Willi-like syndrome due to deletion 6q16" "Del(6)(q16)" - "attenuated hypophosphatasia" "blood AP-3 complex subunit beta-1 amount" "distal arthrogryposis type 5 without ophthalmoplegia" "distal arthrogryposis caused by mutation in ECEL1" @@ -187647,7 +187655,6 @@ "duct of salivary gland carcinoma" "high grade salivary duct carcinoma" "carcinoma of duct of salivary gland" - "snRNA-seq" "autosomal recessive spinocerebellar ataxia type 12" "SCAR12" "autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX" @@ -187669,6 +187676,7 @@ "Implantation, Heart Valve Prosthesis" "Heart Valve Prostheses" "Valve Prostheses, Cardiac" + "snRNA-seq" "GDAP1 Charcot-Marie-Tooth disease type 4" "Charcot-Marie-Tooth neuropathy type 4A" "Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1" @@ -187886,9 +187894,9 @@ "giant axonal neuropathy caused by mutation in DCAF8" "CMT2 with giant axons" "autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons" - "CE 14:0" "fenazaquin" "4-[2-(4-tert-butylphenyl)ethoxy]quinazoline" + "CE 14:0" "F1-F0 complex" "hydrogen-transporting ATP synthase complex" "hydrogen-translocating F-type ATPase complex" @@ -188099,8 +188107,8 @@ "blood serum serine-rich single-pass membrane protein 1 (human) amount" "pulmonary atresia with ventricular septal defect" "pulmonary valve atresia with ventricular septal defect" - "epithelium superficiale (ovarium)" "ovary germinal epithelium" + "epithelium superficiale (ovarium)" "surface epithelium of ovary" "ovarian surface epithelium" "germinal epithelium (female)" @@ -188236,6 +188244,7 @@ "gastric NET G1/2" "gastric well differentiated endocrine tumor/carcinoma" "gastric well differentiated endocrine tumour" + "Autosomal recessive intermediate osteopetrosis" "cerebral gigantism syndrome" "Sotos syndrome type 1" "cerebral gigantism" @@ -188245,7 +188254,6 @@ "chromosome 5q35 deletion syndrome" "Sotos' syndrome" "Sotos syndrome caused by mutation in NSD1" - "Autosomal recessive intermediate osteopetrosis" "CAL-85-1" "cavernous angioma" "cavernoma" @@ -188385,8 +188393,8 @@ "(2R,3S)-3-(6-amino-9H-purin-9-yl)nonan-2-ol hydrochloride" "urinary albumin excretion" "etanercept" - "benign uterine ligament neoplasm" "blood serum sclerostin domain-containing protein 1 amount" + "benign uterine ligament neoplasm" "ECC-1 cell" "ECC1" "EnCa1" @@ -188439,7 +188447,6 @@ "muskmelon" "Oriental melon" "Cucurbita melo L." - "Chitty-Hall-Baraitser syndrome" "small cell carcinoma of urinary bladder" "small cell neuroendocrine carcinoma of the urinary bladder" "bladder small cell neuroendocrine carcinoma" @@ -188454,6 +188461,7 @@ "small cell carcinoma of the urinary bladder" "poorly differentiated neuroendocrine carcinoma of the bladder" "small cell bladder cancer" + "Chitty-Hall-Baraitser syndrome" "blood serum N-alpha-acetyltransferase 20 amount" "Isochromosome type Y" "ABSD" @@ -188461,9 +188469,9 @@ "Athabaskan brainstem dysgenesis syndrome" "Navajo brainstem syndrome" "intimal sarcoma" - "SPG72" "acromesomelic dysplasia, Maroteaux type" "acromesomelic dysplasia 1, Maroteaux type" + "SPG72" "large artery stroke" "atherosclerotic stroke" "potassium" @@ -188547,11 +188555,11 @@ "adenocarcinoma - colon" "adenocarcinoma of the colon" "blood serum beta-1,3-galactosyltransferase 2 amount" - "polydactyly, postaxial, type A6" "MSD" "Multiple sulfatase deficiency disease" "Austin type juvenile sulfatidosis" "Mucosulfatidosis" + "polydactyly, postaxial, type A6" "pigmented nodular adrenocortical disease, primary, type 1" "primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A" "PRKAR1A primary pigmented nodular adrenocortical disease" @@ -188637,8 +188645,8 @@ "fetomaternal hemorrhage" "fetal maternal hemorrhage" "fetal-maternal hemorrhage" - "T-B+ SCID due to IL-7Ralpha deficiency" "blood serum protocadherin beta-2 amount" + "T-B+ SCID due to IL-7Ralpha deficiency" "AML, del(13)(q14q21)" "AML, del(13q14-q21)" "AML, del(13)(q14-q21)" @@ -188675,10 +188683,10 @@ "hereditary neuropathy with liability to pressure palsies" "Macrothrombozytopenia" "blood 5alpha-pregnane-3beta,20alpha-diol disulfate amount" + "growth differentiation factor 15 levels" "Leishmania (Leishmania) chagasi" "Leishmania infantum chagasi" "Leishmania donovani chagasi" - "growth differentiation factor 15 levels" "HMSN2 with giant axons" "CMT2 with giant axons" "Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons" @@ -189134,6 +189142,7 @@ "array_manufacturer" "switchgrass" "blood serum zinc finger CCHC domain-containing protein 17 amount" + "blood protein LEG1 homolog amount" "small intestinal fibrosarcoma" "fibrosarcoma of the small bowel" "fibrosarcoma of the small intestine" @@ -189143,7 +189152,6 @@ "small intestine fibrosarcoma" "fibrosarcoma of small intestine" "fibrosarcoma, small intestine" - "blood protein LEG1 homolog amount" "blood neurofilament light polypeptide amount" "blood septin-7 amount" "blood serum transcription elongation factor A protein-like 8 amount" @@ -189344,9 +189352,9 @@ "saliva-secreting gland neoplasm (disease)" "tumor of the salivary gland" "saliva-secreting gland neoplasm" - "tumour of saliva-secreting gland" "salivary gland tumour" "neoplasm of the salivary gland" + "tumour of saliva-secreting gland" "salivary gland neoplasm" "tumor of saliva-secreting gland" "neoplasm of saliva-secreting gland" @@ -189362,10 +189370,10 @@ "blood carcinoembryonic antigen-related cell adhesion molecule 20 amount" "unspecified JIA" "unspecified juvenile idiopathic arthritis" - "blood lipocalin-15 amount" - "blood serum Phosphatidylcholine (18:0_20:2) amount" "High pitched voice" "High-pitched voice" + "blood lipocalin-15 amount" + "blood serum Phosphatidylcholine (18:0_20:2) amount" "GM17260 cell" "bis(2,3-dihydroxypropyl) hydrogen phosphate" "blood serum Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 amount" @@ -189437,12 +189445,12 @@ "Vestibular Schwann cell tumor" "Vestibular Schwann cell tumour" "epencephalon-1" - "Poikiloderma of Rothmund-Thomson type 1" - "RTS1" "MPSVI, slowly progressing" "MPS6, slowly progressing" "mucopolysaccharidosis type VI, slowly progressing" "arylsulfatase B deficiency, slowly progressing" + "Poikiloderma of Rothmund-Thomson type 1" + "RTS1" "adenomatous polyp of colon" "adenomatous colonic polyposis" "multiple colonic adenomatous polyps" @@ -189499,8 +189507,8 @@ "tumour of GI system" "neoplasm of the digestive system" "tumor of GI system" - "neoplasm of GI system" "digestive system neoplasm" + "neoplasm of GI system" "digestive tumour" "tumour of gastrointestinal system" "GI tumour" @@ -189517,8 +189525,8 @@ "neoplasm of gastrointestinal system" "tumor of digestive system" "GI system neoplasm" - "Influenza A virus (A/Texas/36/91(H1N1))" "Kelly-Kirson-Wyatt syndrome" + "Influenza A virus (A/Texas/36/91(H1N1))" "diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome" "cutaneous hemangioma with muscle or bone atrophy" "congenital absence of hand" @@ -189830,8 +189838,8 @@ "scc of esophagus" "squamous cell carcinoma of the esophagus" "esophageal squamous cell cancer" - "ESCC" "ESCC" + "ESCC" "esophageal epidermoid carcinoma" "oesophagus scc" "esophageal scc" @@ -189948,11 +189956,11 @@ "level of PC(14:0_18:1) in blood serum" "blood serum PC(14:0_18:1) amount" "parietal epithelial layer" - "renal glomerular capsule epithelium" "Bowman's parietal epithelium" + "renal glomerular capsule epithelium" "parietal layer of glomerular capsule" - "parietal capsular epithelium" "outer layer of glomerular capsule" + "parietal capsular epithelium" "glomerular capsule parietal layer" "parietal epithelium of Bowman's capsule" "parietal layer of Bowman capsule" @@ -190081,12 +190089,6 @@ "malignant tumour of the thalamus" "tumour of thalamus" "cancer of dorsal plus ventral thalamus" - "chromosome 16p11.2 duplication syndrome" - "proximal trisomy 16p11.2" - "proximal 16p11.2 microduplication syndrome" - "proximal dup(16)(p11.2)" - "blood serum protein CutA amount" - "blood serum E3 ubiquitin-protein ligase CBL-C amount" "tumor of retina" "tumour of retina" "retinal tumour" @@ -190100,6 +190102,12 @@ "neoplasm of retina" "retina neoplasm (disease)" "neoplasm of the retina" + "chromosome 16p11.2 duplication syndrome" + "proximal trisomy 16p11.2" + "proximal 16p11.2 microduplication syndrome" + "proximal dup(16)(p11.2)" + "blood serum protein CutA amount" + "blood serum E3 ubiquitin-protein ligase CBL-C amount" "AML, t(9;22)(q34.1;q11.2)" "AML, t(9;22)(q34;q11)" "AML, t(9;22)(q34;q11.2)" @@ -190148,15 +190156,15 @@ "mitochondrial complex deficiency caused by mutation in ATP5F1A" "MC5DN4B" "ATP5F1A mitochondrial complex deficiency" - "dysplasia of the colon" - "dysplasia of colon" - "colonic dysplasia" - "colon dysplasia" "CMT1F" "Charcot-Marie-Tooth disease, type 1F" "NEFL Charcot-Marie-Tooth disease type 1" "Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL" "Charcot-Marie-Tooth neuropathy type 1F" + "dysplasia of the colon" + "dysplasia of colon" + "colonic dysplasia" + "colon dysplasia" "(2R)-3-{[(2-aminoethoxy)(hydroxy)phosphoryl]oxy}-2-hydroxypropyl (9Z,12Z)-octadeca-9,12-dienoate" "cloaca" "anal pad" @@ -190379,12 +190387,12 @@ "SLSN" "Renal dysplasia - retinal aplasia" "Nephronophthisis with retinal dystrophy" + "Abnormality of the forehead soft spot" + "Abnormality of the anterior fontanelle" "combined oxidative phosphorylation deficiency caused by mutation in VARS2" "COXPD20" "combined oxidative phosphorylation deficiency type 20" "VARS2 combined oxidative phosphorylation deficiency" - "Abnormality of the forehead soft spot" - "Abnormality of the anterior fontanelle" "hereditary thrombophilia due to congenital HRG deficiency" "thrombophilia 11 due to HRG deficiency" "N-(4-aminobutyl)acetamide" @@ -190476,6 +190484,7 @@ "Halal-Setton-Wang syndrome" "Pink eye" "Sharma-Kapoor-Ramji syndrome" + "Spherophakia - brachymorphia" "blood serum hemoglobin subunit gamma-2 amount" "rhabdomyosarcoma (disease) of extrahepatic bile duct" "rhabdomyosarcoma of extrahepatic bile duct" @@ -190485,7 +190494,6 @@ "bile duct rhabdomyosarcoma (disease)" "rhabdomyosarcoma of the extrahepatic bile duct" "blood serum calsenilin amount" - "Spherophakia - brachymorphia" "4-amino-N-[(1-ethylpyrrolidin-2-yl)methyl]-5-(ethylsulfonyl)-2-methoxybenzamide" "blood serum AN1-type zinc finger protein 1 amount" "ONT P2 Solo" @@ -190520,6 +190528,7 @@ "Chediak - Steinbrinck anomaly" "Chediak-Higashi syndrome" "Chédiak-Higashi-Steinbrink syndrome" + "Syndrome with 46,XX DSD" "blood serum cathepsin O amount" "(SP-4-2)-diamminedichloridoplatinum" "Cisplatin" @@ -190530,7 +190539,6 @@ "central core myopathy" "central core disease (disorder)" "central core disease" - "Syndrome with 46,XX DSD" "3-hydroxydodecanoate" "subdural intracranial hematoma" "intracranial hematoma, subdural" @@ -190642,8 +190650,8 @@ "mental retardation and distinctive Facial features with or without Cardiac defects" "blood CCAAT/enhancer-binding protein alpha amount" "blood serum Phosphatidylcholine (18:0_20:3) amount" - "blood serum Tax1-binding protein 1 amount" "CMT due to MARS mutation" + "blood serum Tax1-binding protein 1 amount" "1H-imidazol-3-ium" "CAHMR syndrome" "blood serum Arf-GAP domain and FG repeat-containing protein 1 amount" @@ -191368,10 +191376,10 @@ "pervasive development disorder" "blood serum bone morphogenetic protein 3B amount" "blood serum neurensin-1 amount" - "kapur-Toriello syndrome" - "cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome" "multiple keratoacanthoma, Muir-Torre type" "Muir-Torre syndrome" + "kapur-Toriello syndrome" + "cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome" "mercurialism" "Mercury Poisoning, Nervous System" "mercury poisoning" @@ -191390,8 +191398,8 @@ "malignant neoplasm of prostate" "malignant tumour of prostate" "malignant prostate neoplasm" - "prostate gland cancer" "prostatic cancer" + "prostate gland cancer" "cancer of prostate gland" "malignant tumor of the prostate" "malignant tumor of prostate" @@ -191513,11 +191521,11 @@ "Weight faltering" "Postnatal failure to thrive" "Faltering weight" - "hydroxyeicosatetraenoic acid" "Rupture of tendons" "Tendon/muscle rupture" "Ruptured tendon" "Tendon rupture" + "hydroxyeicosatetraenoic acid" "blood serum EKC/KEOPS complex subunit TPRKB amount" "neurodevelopmental disorder with or without seizures and gait abnormalities" "muscular dystrophy, limb-girdle, type 2X" @@ -191653,11 +191661,11 @@ "17-beta-hydroxysteroid dehydrogenase 3 deficiency" "17-ketoreductase deficiency" "Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" - "MKV seropositivity" "Anhydrosis" "Sweating dysfunction" "Sudomotor dysfunction" "Lack of sweating" + "MKV seropositivity" "EDS/OI syndrome" "Dowling-Degos disease 1" "Dowling-Degos disease caused by mutation in KRT5" @@ -191912,19 +191920,19 @@ "bronchospasm" "disorder of bronchus" "bronchus disease" - "blood serum beta-1,4-galactosyltransferase 2 amount" "hand dermatosis" + "blood serum beta-1,4-galactosyltransferase 2 amount" + "blood serum glutamate--cysteine ligase regulatory subunit amount" "Gliocladium flavofuscum" "Trichoderma flavofuscum" "Trichoderma virens" "Gliocladium virens" - "blood serum glutamate--cysteine ligase regulatory subunit amount" "blood serum gem-associated protein 7 amount" + "Anomalie syndromique du développement des yeux" "Methanobrevibacter smithii PS" "Methanobrevibacter smithii strain ATCC 35061" "Methanobrevibacter smithii DSM 861" "Methanobrevibacter smithii str. ATCC 35061" - "Anomalie syndromique du développement des yeux" "isovaleric aciduria" "isovaleric acidemia" "Isovalericacidemia" @@ -192121,9 +192129,9 @@ "capillary angioma of the eyelid" "eyelid capillary hemangioma" "capillary hemangioma of eyelid" - "eyelid capillary angioma" "capillary hemangioma of the lid" "capillary angioma of eyelid" + "eyelid capillary angioma" "Niemann-Pick disease type C, classic form" "disorder of porphyrin-containing compound metabolic process" "disorder of porphyrin metabolism" @@ -192179,13 +192187,13 @@ "N-acetylgalactosamine 4-sulfatase deficiency" "Maroteaux - Lamy syndrome" "peritoneum neoplasm" - "tumour of peritoneum" "peritoneal neoplasm" "tumor of peritoneum" "peritoneum neoplasm (disease)" "peritoneum tumour" "neoplasm of peritoneum" "peritoneum tumor" + "tumour of peritoneum" "Mucopolysaccharidosis type IIIB" "N-acetyl-alpha-glucosaminidase deficiency" "Mucopolysaccharidosis type 3B" @@ -192538,8 +192546,8 @@ "strongyloidiasis" "Infection by Strongyloides (disorder)" "Strongyloidiasis" - "blood serum ER membrane protein complex subunit 5 amount" "blood serum Phosphatidylcholine (O-18:2_18:1) amount" + "blood serum ER membrane protein complex subunit 5 amount" "neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" "Cheesemania enysii" "Pachycladon cheesemanii Heenan & A.D.Mitch." @@ -192838,9 +192846,9 @@ "PRP" "hereditary pityriasis rubra pilaris" "pityriasis rubra pilaris--familial type" - "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant" "DRRD" "rhegmatogenous retinal detachment, autosomal dominant" + "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant" "blood serum growth/differentiation factor 3 amount" "sexual disorder" "partial monosomy of the short arm of chromosome type 17" @@ -193193,8 +193201,8 @@ "pigeon-breeder lung disease" "bird fancier lung" "bird-fanciers' lung" - "Avian hypersensitivity Pneumonitis" "pigeon breeder's lung" + "Avian hypersensitivity Pneumonitis" "Bird Fancier's Lung" "Avian hypersensitivity pneumonitis" "bird fancier's lung" @@ -193429,6 +193437,7 @@ "fructose metabolism" "blood serum 60S ribosome subunit biogenesis protein NIP7 amount" "synthetic lactate media" + "mucous membrane of esophagus" "esophagus mucous membrane" "lamina muscularis mucosae oesophageae" "tunica mucosa oesophageae" @@ -193443,7 +193452,6 @@ "tunica mucosa oesophagi" "mucosa of esophagus" "esophagus mucosa" - "mucous membrane of esophagus" "blood serum ubiquitin-conjugating enzyme E2 H amount" "Abnormality of blood vessels" "Vascular abnormalities" @@ -193687,19 +193695,10 @@ "CDG1C" "Congenital disorder of glycosylation type Ic" "MEB disease with bilateral multicystic leucodystrophy" + "TAG 52:3" "hypertrichosis (disease) of eyelid" "eyelid hypertrichosis (disease)" - "TAG 52:3" "blood serum zinc finger protein 134 amount" - "Infection by Dictyocaulus (disorder)" - "Dictyocaulus disease or disorder" - "Dictyocaulus Infections" - "Dictyocaulus caused disease or disorder" - "Dictyocaulus infectious disease" - "Boyes Arabidopsis Growth Stage 5.1" - "129S1" - "blood serum Phosphatidylcholine (O-18:2_18:2) amount" - "Enlarged heart left atrium" "Van Bogaert's sclerosing leukoencephalitis" "Van Bogaert encephalitis" "Van Bogaert disease" @@ -193715,6 +193714,15 @@ "Dawson's encephalitis" "subacute sclerosing panencephalitis" "Subacute Sclerosing Panencephalitis" + "Infection by Dictyocaulus (disorder)" + "Dictyocaulus disease or disorder" + "Dictyocaulus Infections" + "Dictyocaulus caused disease or disorder" + "Dictyocaulus infectious disease" + "Boyes Arabidopsis Growth Stage 5.1" + "129S1" + "blood serum Phosphatidylcholine (O-18:2_18:2) amount" + "Enlarged heart left atrium" "blood serum transcriptional enhancer factor TEF-5 amount" "Carnevale-Hernández-del Castillo syndrome" "partial monosomy of the long arm of chromosome 8" @@ -193727,6 +193735,7 @@ "BPIDS" "oculocerebrofacial syndrome, Kaufman type" "blepharophimosis-ptosis-intellectual disability syndrome" + "benign Major salivary gland tumour" "benign tumor of Major salivary gland" "major salivary gland benign neoplasm" "benign Major salivary gland neoplasm" @@ -193735,7 +193744,6 @@ "benign neoplasm of the Major salivary gland" "benign tumor of the Major salivary gland" "benign tumour of Major salivary gland" - "benign Major salivary gland tumour" "severe congenital hypochromic sideroblastic anaemia" "severe congenital hypochromic sideroblastic anemia" "anemia, hypochromic microcytic, with iron overload type 2" @@ -194273,10 +194281,10 @@ "blood chromatin complexes subunit BAP18 (human) amount" "microdeletion syndrome" "blood seizure protein 6 amount" + "blood serum 2-iminobutanoate/2-iminopropanoate deaminase amount" "blood serum T-cell leukemia/lymphoma protein 1B amount" "pelvis of ureter" "kidney pelvis" - "blood serum 2-iminobutanoate/2-iminopropanoate deaminase amount" "sixth visceral pouch" "visceral pouch 6" "6th branchial pouch" @@ -194523,7 +194531,6 @@ "GM07404D" "GM07404" "GM07404A" - "bitter taste sensitivity trait" "Brain Ischemias" "Encephalopathy, Ischemic" "Ischemia, Cerebral" @@ -194535,6 +194542,7 @@ "Ischemic Encephalopathy" "Cerebral Ischemia" "Ischemias, Cerebral" + "bitter taste sensitivity trait" "Juvenile:Days 45-89" "Al-Gazali syndrome" "Lack of language development" @@ -194564,17 +194572,17 @@ "ectrodactyly of hand" "blood serum dystrotelin amount" "hereditary papulotranslucent acrokeratoderma" + "fallopian tube mucinous neoplasm" + "fallopian tube mucinous tumor" "urinary bladder, atony of" "bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT" "atony of urinary bladder" - "fallopian tube mucinous neoplasm" - "fallopian tube mucinous tumor" "secondary hyperparathyroidism (of renal origin)" "hyperparathyroidism due to renal insufficiency" "blood otoancorin amount" "ND00259 cell" - "non-Zellweger spectrum disorder" "blood serum calcipressin-1 amount" + "non-Zellweger spectrum disorder" "Peste-des-Petits-Ruminants" "Ovine rinderpest" "Goat plague" @@ -194732,8 +194740,8 @@ "uterine ligament tumor" "uterine ligament neoplasm" "uterine ligament tumour" - "neoplasm of uterine ligament" "tumour of the uterine ligament" + "neoplasm of uterine ligament" "tumor of the uterine ligament" "type 1 diabetes mellitus caused by mutation in HNF1A" "HNF1A type 1 diabetes mellitus" @@ -194924,8 +194932,8 @@ "fin buds" "Hepatocholangiocellular adenoma" "Hepatocholangioma" - "bile duct adenoma" "Cholangioma" + "bile duct adenoma" "Cholangioadenoma" "adenoma of bile duct" "bile duct adenoma (morphologic abnormality)" @@ -195309,8 +195317,8 @@ "blood serum lymphocyte antigen 6 complex locus protein G6d amount" "placental-site gestational trophoblastic tumour" "placental site gestational trophoblastic tumor" - "PSST" "PSST" + "PSST" "placental site trophoblastic tumor" "placental-site gestational trophoblastic tumor" "placental site trophoblastic tumor (morphologic abnormality)" @@ -195368,9 +195376,9 @@ "Keratitis, Herpetic" "PAC-Seq" "GM17818 cell" + "GM17740 cell" "25-hydroxycalciferol" "25-hydroxyergocalciferol" - "GM17740 cell" "MMP-1" "inborn error of cellular copper ion homeostasis" "inborn cellular copper ion homeostasis disorder" @@ -195590,8 +195598,8 @@ "Emanuel syndrome" "Der(22)t(11;22) syndrome" "blood beta-glucuronidase amount" - "blood serum nuclear receptor coactivator 7 amount" "bilateral renal dysplasia" + "blood serum nuclear receptor coactivator 7 amount" "blood serum Rho GDP-dissociation inhibitor 2 amount" "neurocranial trabeculae" "male inflorescence" @@ -195641,7 +195649,6 @@ "Calculus, Renal" "Abnormality of the bone of the forehead" "Abnormality of the frontal bone" - "acquired hypopituitarism" "malignant colorectal neoplasm" "colorectal cancer" "malignant neoplasm of large bowel" @@ -195664,6 +195671,7 @@ "malignant colorectal tumor" "malignant large bowel neoplasm" "malignant colorectum neoplasm" + "acquired hypopituitarism" "blood serum Phosphatidylcholine (18:0_22:6) amount" "blood serum ADP-ribosylation factor-binding protein GGA3 amount" "blood serum TBC1 domain family member 22B amount" @@ -195679,10 +195687,10 @@ "primary cutaneous diffuse large B-cell lymphoma, Leg type" "PCDLBCL,LT" "genetic peripheral neuropathy" - "MCV" - "mean cell volume" "Angelman syndrome due to paternal uniparental disomy of chromosome type 15" "UPD(15)pat" + "MCV" + "mean cell volume" "renal pelvis plus ureter" "renal pelvis and ureter" "END STAGE RENAL DIS" @@ -195854,11 +195862,11 @@ "familial prothrombin consumption inhibitor" "familial prothrombin conversion defect" "Scott syndrome" - "primary retention of teeth" - "PFE" "Megaconial congénital muscular dystrophy" "Congenital muscular dystrophy with mitochondrial structural abnormalities" "Congenital megaconial myopathy" + "primary retention of teeth" + "PFE" "blood phosphofurin acidic cluster sorting protein 2 amount" "blood serum calcipressin-2 amount" "Pestivirus infectious disease" @@ -196027,6 +196035,7 @@ "appendix mixed carcinoid-adenocarcinoma" "goblet cell carcinoid of the appendix" "appendix goblet cell carcinoid tumor" + "rac-4-hydroxy-3-(3-oxo-1-phenylbutyl)-2H-1-benzopyran-2-one" "Congenital disorder of glycosylation type 1e" "CDG syndrome type Ie" "Dol-P-mannosyltransferase deficiency" @@ -196034,7 +196043,6 @@ "Carbohydrate deficient glycoprotein syndrome type Ie" "CDG-Ie" "CDG1E" - "rac-4-hydroxy-3-(3-oxo-1-phenylbutyl)-2H-1-benzopyran-2-one" "blood serum dihydrofolate reductase amount" "Retarded growth" "Growth failure" @@ -196194,7 +196202,6 @@ "perineal region" "regio perinealis" "blood serum E3 ubiquitin-protein ligase pellino homolog 2 amount" - "sequential fluorescence in situ hybridization" "malignant biphasic mesothelioma, malignant" "biphasic mesothelioma" "mixed mesothelioma" @@ -196202,6 +196209,7 @@ "malignant biphasic mesothelioma" "mesothelioma, biphasic, malignant" "mesothelioma, biphasic, malignant (morphologic abnormality)" + "sequential fluorescence in situ hybridization" "cortex of lens" "3-fold embryo" "blood serum single-pass membrane and coiled-coil domain-containing protein 2 amount" @@ -196272,7 +196280,6 @@ "microcephalus" "H125" "SPG76" - "GM17835 cell" "hypertrophic osteoarthropathy, primary, autosomal recessive 1" "primary hypertrophic osteoarthropathy caused by mutation in HPGD" "hypertrophic osteoarthropathy, primary, autosomal recessive, 1" @@ -196280,6 +196287,7 @@ "L-2-hydroxyglutaric aciduria" "L-2-HGA" "L-2-hydroxyglutaric acidemia" + "GM17835 cell" "esophagus inflammation" "oesophagus inflammation" "esophagitis (disease)" @@ -196294,12 +196302,12 @@ "oesophagus tumour" "neoplasm of the esophagus" "esophageal tumours" - "tumor of esophagus" "esophageal tumors" "esophageal tumour" + "tumor of esophagus" "oesophagus neoplasm (disease)" - "neoplasm of the oesophagus" "esophageal neoplasms, benign and malignant" + "neoplasm of the oesophagus" "esophagus neoplasm (disease)" "esophagus neoplasm" "esophagus tumor" @@ -196557,7 +196565,6 @@ "Muscle of heart" "Heart muscle" "high risk pregnancy" - "blood serum long-chain specific acyl-CoA dehydrogenase, mitochondrial amount" "Herpesvirus infection (disorder)" "Herpesviridae disease or disorder" "Herpesviridae caused disease or disorder" @@ -196566,6 +196573,7 @@ "Herpesviridae infectious disease" "Herpesviridae infections" "Herpesviridae Infections" + "blood serum long-chain specific acyl-CoA dehydrogenase, mitochondrial amount" "phosphorylase kinase, intrinsic catalyst activity" "Whyte-Murphy syndrome" "pyruvate carboxylase deficiency type C" @@ -196799,10 +196807,10 @@ "PRSS12 autosomal recessive non-syndromic intellectual disability" "autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12" "mental retardation, autosomal recessive type 1" - "Endocardial cushion defect" - "Atrioventricular septal defect" "Neuroschistosomiasis" "neuroschistosomiasis" + "Endocardial cushion defect" + "Atrioventricular septal defect" "membranous nephropathy" "membranous Glomerulonephropathy" "idiopathic membranous nephropathy" @@ -196981,8 +196989,8 @@ "blood epigen amount" "pulmonary valve stenosis" "Pulmonary Valve Stenosis" - "blood serum desmocollin-1 amount" "Enterocolitis, Pseudomembranous" + "blood serum desmocollin-1 amount" "blood serum membrane-bound transcription factor site-1 protease amount" "anatomical entity prostate-specific antigen amount" "Wolhynia qintanae" diff --git a/src/ontology/reports/xrefs.tsv b/src/ontology/reports/xrefs.tsv index 40c64764..7e58a360 100644 --- a/src/ontology/reports/xrefs.tsv +++ b/src/ontology/reports/xrefs.tsv @@ -125,12 +125,12 @@ "UMLS:C1832588" "OMIM:601224" "MeSH:C538356" - "UMLS:C0740394" - "SNOMEDCT_US:35885006" "DOID:0070415" "OMIM:617412" "UMLS:C4479431" "MEDGEN:1374289" + "UMLS:C0740394" + "SNOMEDCT_US:35885006" "MEDGEN:14336" "SCTID:118940003" "ICD10CM:G00-G99" @@ -369,6 +369,7 @@ "PMID:28240269" "PMID:28240269" "ICD10:Q43.1" + "PMID:29875488" "UMLS:C0266579" "MedDRA:10014923" "MEDGEN:540011" @@ -388,7 +389,6 @@ "MESH:D005356" "UMLS:C0016053" "ICD10CM:M79.7" - "PMID:29875488" "MedDRA:10062759" "OMIMPS:127550" "NCIT:C111802" @@ -511,27 +511,16 @@ "UMLS:C0268448" "OMIM:248250" "PMID:37164013" + "ICD10:G31.0" + "MeSH:C538209" + "UMLS:C1861735" + "OMIM:117300" "Orphanet:427" "icd11.foundation:712299654" "SCTID:715343000" "UMLS:C4275180" "MEDGEN:899592" "GARD:16532" - "ICD10:G31.0" - "MeSH:C538209" - "UMLS:C1861735" - "OMIM:117300" - "SNOMEDCT:74732009" - "ICD9:307" - "SNOMEDCT:192639003" - "ICD9:307.59" - "SNOMEDCT:268721001" - "ICD9:290-319.99" - "ICD9:300-316.99" - "ICD9:307.5" - "DOID:150" - "ICD9:307.9" - "SNOMEDCT:192637001" "PMID:35347128" "MedDRA:10013030" "GARD:942" @@ -548,6 +537,17 @@ "ICD9:123.4" "MedDRA:10013029" "MeSH:D004169" + "SNOMEDCT:74732009" + "ICD9:307" + "SNOMEDCT:192639003" + "ICD9:307.59" + "SNOMEDCT:268721001" + "ICD9:290-319.99" + "ICD9:300-316.99" + "ICD9:307.5" + "DOID:150" + "ICD9:307.9" + "SNOMEDCT:192637001" "OMIM:612924" "GARD:18554" "MEDGEN:416691" @@ -1735,8 +1735,8 @@ "MONDO:0005911" "MESH:D000258" "Wikipedia:Cesium_chloride \"Wikipedia\"" - "PMID:698485" "MeSH:C028019" + "PMID:698485" "CiteXplore:11058836 \"PubMed citation\"" "ChemIDplus:7647-17-8 \"CAS Registry Number\"" "Reaxys:3534981 \"Reaxys Registry Number\"" @@ -2122,6 +2122,11 @@ "OMIM:608837" "ICD10:Q82.1" "OMIM:610651" + "DOID:0080959" + "OMIM:618920" + "UMLS:C5394505" + "MEDGEN:1712001" + "PMID:37794183" "ICD9:377.01" "SCTID:73221001" "SCTID:423341008" @@ -2139,11 +2144,6 @@ "SNOMEDCT:73221001" "MONDO:0006879" "UMLS:C0030353" - "DOID:0080959" - "OMIM:618920" - "UMLS:C5394505" - "MEDGEN:1712001" - "PMID:37794183" "Wikipedia:Lipid_catabolism" "NCIt:C26989" "MedDRA:10002544" @@ -2208,8 +2208,6 @@ "PMID:29875488" "ICD10:E75.2" "OMIM:608013" - "PMID:23475189" - "PMID:19347970" "MESH:D011671" "UMLS:C0034103" "SNOMEDCT:32620007" @@ -2224,6 +2222,8 @@ "ICD9:522.0" "MeSH:D011671" "DOID:11121" + "PMID:23475189" + "PMID:19347970" "SNOMEDCT:261226001" "PMID:27193062" "RRID:CVCL_D261" @@ -2804,12 +2804,12 @@ "DOID:0080272" "UMLS:C4540453" "PMID:37794183" - "NCIt:C94618" - "Wikipedia:Excretion" "BTO:0002405" "RRID:CVCL_0258" "CLO:0002932" " CLO:0002933" + "NCIt:C94618" + "Wikipedia:Excretion" "UMLS:C0265280" "GARD:3047" "MEDGEN:82698" @@ -3220,9 +3220,9 @@ "NORD:1818" "Orphanet:887" "icd11.foundation:1452617987" + "PMID:29875488" "OMIM:301052" "DOID:0080839" - "PMID:29875488" "MESH:C537505" "OMIM:262650" "Orphanet:629" @@ -3312,7 +3312,6 @@ "ICD9:033.9" "ICD10CM:A37.1" "MEDGEN:12159" - "SNOMEDCT:74427007" "OMIM:616030" "OMIM:614837" "UMLS:C0162809" @@ -3336,6 +3335,7 @@ "OMIM:618841" "OMIM:615270" "OMIM:614838" + "SNOMEDCT:74427007" "ICD9:277.6" "UMLS:C0878682" "MEDGEN:168057" @@ -3466,7 +3466,6 @@ "UMLS:C3553958" "OMIM:614875" "Orphanet:99646" - "Orphanet:183634" "MONDO:0006856" "MEDGEN:811450" "UMLS:C3714739" @@ -3474,6 +3473,7 @@ "EFO:1001044" "NCIT:C3786" "ICD10CM:C45-C49" + "Orphanet:183634" "MESH:D013959" "ICD9:246.8" "SCTID:14304000" @@ -3567,6 +3567,8 @@ "SNOMEDCT:9861002" "MeSH:D013296" "NCIt:C76384" + "NCIt:C29885" + "GO:0042632" "UMLS:C1832594" "Orphanet:2899" "OMIM:601216" @@ -3574,8 +3576,6 @@ "SCTID:716195006" "GARD:5478" "MEDGEN:318659" - "NCIt:C29885" - "GO:0042632" "KEGG_REACTION:R04559" "Reactome:R-HSA-73828" "RHEA:23920" @@ -3814,6 +3814,7 @@ "DOID:0050882" "SNOMEDCT:1161001" "PMID:24816252" + "PMID:28240269" "galen:ProstateGland" "UMLS:C0033572" "CALOHA:TS-0828" @@ -3831,7 +3832,6 @@ "EV:0100104" "VHOG:0001261" "EMAPA:19287" - "PMID:28240269" "MEDGEN:1648439" "DOID:0111403" "OMIM:618273" @@ -3894,6 +3894,21 @@ "OMIM:613887" "OMIM:110800" "OMIM:600881" + "MESH:C537079" + "GARD:824" + "icd11.foundation:2021339495" + "NCIT:C176823" + "UMLS:C2931418" + "DOID:5812" + "SCTID:71904008" + "MEDGEN:444051" + "NANDO:1200329" + "OMIMPS:209920" + "NCIT:C3895" + "NANDO:2200702" + "MESH:D016511" + "Orphanet:572" + "OMIMPS:212093" "MONDO:0019100" "SCTID:25044007" "MeSH:D009471" @@ -3912,21 +3927,6 @@ "NORD:1505" "Orphanet:71211" "GARD:6267" - "MESH:C537079" - "GARD:824" - "icd11.foundation:2021339495" - "NCIT:C176823" - "UMLS:C2931418" - "DOID:5812" - "SCTID:71904008" - "MEDGEN:444051" - "NANDO:1200329" - "OMIMPS:209920" - "NCIT:C3895" - "NANDO:2200702" - "MESH:D016511" - "Orphanet:572" - "OMIMPS:212093" "PMID:37794183" "MA:0001173" "MESH:D013979" @@ -4076,6 +4076,8 @@ "PMID:29875488" "PMID:28922980" "PMID:23823483" + "UMLS:C2750654" + "UMLS:C4021883" "MeSH:D007967" "MESH:D007967" "SCTID:67795000" @@ -4086,8 +4088,6 @@ "MEDGEN:44132" "MONDO:0006880" "SNOMEDCT:67795000" - "UMLS:C2750654" - "UMLS:C4021883" "PMID:37794183" "OMIM:618922" "UMLS:C5394517" @@ -4266,8 +4266,8 @@ "PMID:29875488" "PMID:31251335" "PMID:23823483" - "UMLS:C1845977" "PMID:37794183" + "UMLS:C1845977" "NCIt:C5858" "Orphanet:849" "NORD:1186" @@ -4634,13 +4634,13 @@ "NCIT:C6633" "DOID:6868" "MEDGEN:235311" + "OMIM:204500" + "ICD10:E75.4" "UMLS:C5394548" "MEDGEN:1718769" "OMIM:618940" "GARD:16397" "DOID:0081298" - "OMIM:204500" - "ICD10:E75.4" "ICD10:Q87.8" "EC:4.2.1.93" "MetaCyc:4.2.1.93-RXN" @@ -4780,6 +4780,7 @@ "MEDGEN:88444" "SNOMEDCT_US:59455009" "UMLS:C0220981" + "PMID:37164013" "KEGG:C05824" "PMID:23392866" "Reaxys:1726832" @@ -4789,7 +4790,6 @@ "CAS:1637-71-4" "PDBeChem:CSU" "PMID:23430915" - "PMID:37164013" "DOID:12721" "icd11.foundation:2009123831" "NORD:1468" @@ -4863,10 +4863,10 @@ "SCTID:254144002" "MEDGEN:96592" "GARD:4142" + "PMID:37794183" "MEDGEN:146772" "UMLS:C0677936" "NCIT:C120186" - "PMID:37794183" "DOID:4903" "ICDO:8320/3" "UMLS:C0205644" @@ -4913,10 +4913,10 @@ "MEDGEN:501176" "SCTID:61598006" "icd11.foundation:426701963" - "UMLS:C0344106" - "NCIt:C21097" "RRID:CVCL_U427" "BTO:0006149" + "UMLS:C0344106" + "NCIt:C21097" "PMID:28240269" "OMIM:300860" "ICD10:Q87.8" @@ -4929,10 +4929,10 @@ "MedDRA:10023492" "UMLS:C0023521" "MedDRA:10082906" - "PMID:35347128" "ICD10:Q87.8" "OMIM:234250" "UMLS:C1856198" + "PMID:35347128" "MEDGEN:20989" "NCIT:C35458" "UMLS:C0038580" @@ -5027,8 +5027,8 @@ "MONDO:0004982" "MeSH:D010195" "DOID:4989" - "MEDGEN:14586" "NCIt:C3306" + "MEDGEN:14586" "MedDRA:10033645" "SCTID:75694006" "MESH:D010195" @@ -5136,17 +5136,17 @@ "UMLS:C4721788" "PMID:37794183" "NCIt:C15189" + "UMLS:C2930869" + "UMLS:C1865294" + "OMIM:602484" + "MeSH:C535548" + "MeSH:C535292" "ZFA:0000265" "NCIT:C3127" "SCTID:126686005" "MEDGEN:43797" "UMLS:C0020627" "NCIt:C121970" - "UMLS:C2930869" - "UMLS:C1865294" - "OMIM:602484" - "MeSH:C535548" - "MeSH:C535292" "PMID:28235828" "SNOMEDCT:55827005" "NCIt:C50631" @@ -5339,9 +5339,9 @@ "MedDRA:10056268" "NCIt:C6996" "MeSH:D062788" - "PMID:35347128" "NIF_Subcellular:sao585356902" "Wikipedia:Lysosome" + "PMID:35347128" "MeSH:D037801" "PMID:29875488" "UMLS:C1334647" @@ -5611,12 +5611,12 @@ "NCIT:C84641" "DOID:11836" "SCTID:397932003" - "TAO:0000939" - "ZFA:0000939" - "EFO:0003592" "OMIM:617506" "ICD10:Q87.1" "OMIM:607721" + "TAO:0000939" + "ZFA:0000939" + "EFO:0003592" "NCIT:C3597" "MEDGEN:102296" "SCTID:92293007" @@ -6093,8 +6093,6 @@ "BTO:0002252" "NCIt:C12454" "MAT:0000348" - "OMIM:133000" - "ICD10:L59.8" "GAID:1285" "EFO:0001386" "SCTID:362082005" @@ -6104,6 +6102,8 @@ "Wikipedia:Palatine_uvula" "FMA:55022" "BTO:0002204" + "OMIM:133000" + "ICD10:L59.8" "UMLS:C4014803" "OMIM:615954" "MONDO:0014416" @@ -6299,10 +6299,10 @@ "ICD10:Q99.8" "OMIM:300869" "PMID:32602732" - "PMID:23823483" "PMID:23823483" "FBbt:00005508" "VFB:FBbt_00005508" + "PMID:23823483" "NCIT:C12664" "MESH:D034841" "GAID:17" @@ -6315,7 +6315,6 @@ "galen:AbdominalCavity" "EMAPA:36505" "PMID:37794183" - "UMLS:C1849538" "UMLS:C0024198" "MEDGEN:44213" "ICD10:A69.2" @@ -6331,6 +6330,7 @@ "MONDO:0019632" "Orphanet:91546" "MedDRA:10025169" + "UMLS:C1849538" "OMIM:613370" "MEDGEN:461967" "SCTID:609577006" @@ -7195,8 +7195,8 @@ "SNOMEDCT_US:79883001" "UMLS:C0029927" "PMID:29875488" - "PMID:37253714" "PMID:20634892" + "PMID:37253714" "GARD:18015" "UMLS:C4693824" "OMIM:617982" @@ -7395,7 +7395,6 @@ "UMLS:C1185749" "TAO:0001356" "PMID:29875488" - "PMID:36168886" "PMID:34610981" "NORD:2038" "GARD:5677" @@ -7412,7 +7411,7 @@ "ICD9:239.5" "SCTID:123844007" "MESH:D016889" - "PMID:37794183" + "PMID:36168886" "icd11.foundation:1144812971" "SCTID:397016004" "NCIT:C9235" @@ -7423,6 +7422,7 @@ "ONCOTREE:SM" "DOID:349" "MedDRA:10042949" + "PMID:37794183" "MEDGEN:98153" "NANDO:2200990" "UMLS:C0432306" @@ -7491,13 +7491,13 @@ "EHDAA:9380" "NCIT:C12409" "galen:Penis" - "FMA:9707" "SCTID:265793009" + "FMA:9707" + "UMLS:C0342690" + "ICD10:E72.4" "NCIT:C3302" "DOID:3450" "MESH:D010145" - "UMLS:C0342690" - "ICD10:E72.4" "MESH:D000782" "NCIT:C2873" "UMLS:C0002938" @@ -7624,8 +7624,8 @@ "NANDO:1200513" "UMLS:C1857093" "PMID:29875488" - "GARD:20492" "MEDGEN:308948" + "GARD:20492" "ICD10CM:C53.0" "Orphanet:213792" "DOID:4111" @@ -7663,6 +7663,24 @@ "DOID:6255" "PMID:35347128" "PMID:31969693" + "MONDO:0007012" + "MESH:D016643" + "MEDGEN:138163" + "MedDRA:10064199" + "NCIt:C26802" + "GARD:9550" + "MeSH:D016643" + "ICD10CM:A81.01" + "ICD9:046.11" + "SCTID:304603007" + "NANDO:1200194" + "DOID:5435" + "NCIT:C128438" + "Orphanet:576370" + "icd11.foundation:378572696" + "SNOMEDCT:304603007" + "UMLS:C0376329" + "NCIT:C26802" "Orphanet:231692" "SCTID:234533006" "GARD:3921" @@ -7682,24 +7700,6 @@ "DOID:13574" "SCTID:78875003" "UMLS:C0154980" - "MONDO:0007012" - "MESH:D016643" - "MEDGEN:138163" - "MedDRA:10064199" - "NCIt:C26802" - "GARD:9550" - "MeSH:D016643" - "ICD10CM:A81.01" - "ICD9:046.11" - "SCTID:304603007" - "NANDO:1200194" - "DOID:5435" - "NCIT:C128438" - "Orphanet:576370" - "icd11.foundation:378572696" - "SNOMEDCT:304603007" - "UMLS:C0376329" - "NCIT:C26802" "PMID:35347128" "ICD10:Q92.3" "OMIM:300696" @@ -7982,7 +7982,6 @@ "OMIM:251220" "UMLS:C0796061" "ICD10:Q87.8" - "PMID:29875488" "SNOMEDCT_US:247177004" "UMLS:C0521683" "Orphanet:306658" @@ -7992,6 +7991,7 @@ "DOID:0080170" "GARD:10878" "UMLS:C1864861" + "PMID:29875488" "UMLS:CN226645" "Orphanet:117573" "PMID:37794183" @@ -8089,12 +8089,6 @@ "OMIM:307300" "GTR:AN0098649" "SCTID:122811000119101" - "UMLS:C1709666" - "UMLS:C2200138" - "NCIT:C45605" - "MONDO:0006387" - "EFO:1000495" - "MEDGEN:1789549" "MEDGEN:1773574" "OMIM:618970" "UMLS:C5436505" @@ -8105,6 +8099,12 @@ "MEDGEN:657805" "UMLS:C0574090" "SCTID:297238008" + "UMLS:C1709666" + "UMLS:C2200138" + "NCIT:C45605" + "MONDO:0006387" + "EFO:1000495" + "MEDGEN:1789549" "UMLS:C1332833" "NCIT:C6488" "MEDGEN:232021" @@ -8187,13 +8187,13 @@ "UMLS:C4304745" "MEDGEN:930414" "NIF_Subcellular:sao1784069613" - "NCIt:C9163" "FMA:55070" "NCIT:C73468" "MA:0000752" "Wikipedia:Waldeyer's_ring" "UMLS:C0459892" "SCTID:56411004" + "NCIt:C9163" "NCIt:C99107" "UMLS:C0517555" "UMLS:C0042487" @@ -8259,9 +8259,9 @@ "UMLS:C4518783" "Orphanet:397941" "SCTID:733450008" - "PMID:23823483" "GO:0008150" "MeSH:D055705" + "PMID:23823483" "NCIt:C50474" "MedDRA:10006101" "UMLS:C3280240" @@ -8539,12 +8539,12 @@ "OMIM:618620" "UMLS:C5231430" "DOID:0080945" - "PMID:24816252" "http://genome.cse.ucsc.edu/cgi-bin/hgEncodeVocab?ra=encode%2Fcv.ra&term=%22iPS_CWRU1%22" "GARD:16478" "OMIM:619188" "UMLS:C5543067" "MEDGEN:1784554" + "PMID:24816252" "OMIM:610992" "ICD10:E72.8" "PMID:30944420" @@ -8558,8 +8558,6 @@ "MEDGEN:162990" "UMLS:C0796664" "DOID:6084" - "OMIM:300578" - "ICD10:H35.5" "PMID:19347970" "MEDGEN:335003" "OMIM:304350" @@ -8567,15 +8565,10 @@ "MESH:C564435" "Orphanet:90646" "UMLS:C1844680" + "OMIM:300578" + "ICD10:H35.5" "UMLS:C0017574" "SNOMEDCT_US:66383009" - "DOID:0111938" - "MEDGEN:863054" - "Orphanet:420573" - "GARD:17696" - "UMLS:C4014617" - "OMIM:615897" - "SCTID:763623001" "MeSH:D052245" "OMIM:612632" "OMIM:602083" @@ -8596,6 +8589,13 @@ "OMIM:605472" "OMIM:614504" "ICD10:H35.5" + "DOID:0111938" + "MEDGEN:863054" + "Orphanet:420573" + "GARD:17696" + "UMLS:C4014617" + "OMIM:615897" + "SCTID:763623001" "MEDGEN:1804547" "NANDO:2100248" "SCTID:95643007" @@ -8684,7 +8684,6 @@ "PMID:28240269" "PMID:34154395" "PMID:29875488" - "PMID:29875488" "OMIM:103285" "SCTID:720464003" "DOID:0050601" @@ -8694,6 +8693,7 @@ "Orphanet:978" "UMLS:C1863204" "MEDGEN:400232" + "PMID:29875488" "MONDO:0006270" "UMLS:C0334381" "MEDGEN:79007" @@ -8863,13 +8863,13 @@ "MESH:D059268" "ICD9:627.3" "RRID:CVCL_1865" - "PMID:29875488" "MEDGEN:233275" "DOID:5263" "NCIT:C5234" "MONDO:0003355" "UMLS:C1335163" "EFO:0006718" + "PMID:29875488" "CLO:0050181" "RRID:CVCL_0227" "CLO:0002636" @@ -9134,11 +9134,11 @@ "icd11.foundation:570001324" "Orphanet:102009" "NANDO:1201069" + "PMID:29875488" "ICD10:H50" "UMLS:C0038379" "SNOMEDCT_US:22066006" "SNOMEDCT_US:128602000" - "PMID:29875488" "PMID:28878392" "NANDO:1200835" "UMLS:C2752027" @@ -9286,7 +9286,6 @@ "OMIM:604229" "MeSH:C537884" "ICD10:Q13.4" - "PMID:28240269" "MAT:0000497" "EHDAA:1900" "FMA:82553" @@ -9299,6 +9298,7 @@ "EV:0100020" "ZFA:0000009" "PMID:28492527" + "PMID:28240269" "FMA:84798" "NCIt:C33516" "ZFA:0009235" @@ -9388,8 +9388,8 @@ "MESH:D015439" "UMLS:C0575897" "SNOMEDCT_US:299130003" - "NCIT:C126349" "MeSH:D013952" + "NCIT:C126349" "MESH:D014314" "NCIT:C3421" "MEDGEN:21702" @@ -9451,8 +9451,8 @@ "NCIT:C119043" "UMLS:C2673198" "MEDGEN:435869" - "PMID:37794183" "PMID:30053915" + "PMID:37794183" "MEDGEN:1714019" "Orphanet:589435" "UMLS:C5394555" @@ -9509,11 +9509,11 @@ "ICD10:G71.3" "UMLS:C0162671" "PMID:29875488" + "PMID:35347128" "OMIMPS:206100" "MESH:C567144" "UMLS:C2673913" "MEDGEN:388759" - "PMID:35347128" "UMLS:C1851526" "GARD:9707" "OMIM:132700" @@ -9740,8 +9740,8 @@ "UMLS:C0342801" "SCTID:238012003" "PMID:32641083" - "OMIM:224800" "PMID:37794183" + "OMIM:224800" "UMLS:C0020672" "SNOMEDCT_US:386689009" "MEDGEN:149279" @@ -9976,6 +9976,11 @@ "ICD10:S74" "NCIt:C66565" "SNOMEDCT:102261002" + "NCIT:C5327" + "NCIt:C5327" + "MEDGEN:232588" + "MONDO:0006239" + "UMLS:C1333944" "MEDGEN:167070" "SCTID:718189004" "OMIM:179613" @@ -9983,11 +9988,6 @@ "GARD:9698" "Orphanet:96167" "UMLS:C0795822" - "NCIT:C5327" - "NCIt:C5327" - "MEDGEN:232588" - "MONDO:0006239" - "UMLS:C1333944" "DOID:0050463" "MeSH:D055036" "OMIM:114290" @@ -10120,7 +10120,6 @@ "SNOMEDCT_US:74227009" "UMLS:C0349391" "ICD10:D84.8" - "PMID:35347128" "PMID:31711042" "PMID:31551469" "Orphanet:488197" @@ -10128,6 +10127,7 @@ "UMLS:C4225493" "GARD:17888" "MEDGEN:903733" + "PMID:35347128" "MeSH:Q000472" "NCIT:C96477" "EFO:1000504" @@ -10470,10 +10470,10 @@ "PMID:22224417" "PMID:19616570" "OMIM:164500" + "UMLS:C2237142" "SNOMEDCT:710072005" "MedDRA:10051036" "MeSH:D053716" - "UMLS:C2237142" "UMLS:C4540156" "OMIM:617694" "MEDGEN:1611968" @@ -10492,11 +10492,11 @@ "OMIM:608203" "MEDGEN:374920" "MESH:C564275" + "PMID:33634981" "GARD:19241" "Orphanet:93947" "MEDGEN:1842639" "UMLS:C5681614" - "PMID:33634981" "MEDGEN:1383455" "GARD:21141" "Orphanet:289513" @@ -11080,7 +11080,6 @@ "ICD10:Q01.2" "ICD10:Q01.1" "ICD10:Q01.0" - "PMID:35347128" "Wikipedia:Pityriasis_rosea" "NCIT:C26855" "ICD10CM:L42" @@ -11094,6 +11093,7 @@ "DOID:8892" "ICD9:696.3" "MESH:D017515" + "PMID:35347128" "icd11.foundation:237039059" "DOID:0110826" "SCTID:232057003" @@ -11174,8 +11174,6 @@ "NCIt:C80385" "SNOMEDCT:370992007" "SNOMEDCT_US:370992007" - "OMIM:300004" - "ICD10:Q87.8" "UMLS:C0729346" "NCIt:C35313" "MedDRA:10023259" @@ -11208,8 +11206,10 @@ "UMLS:C0930553" "FMA:59788" "PMID:35347128" - "PMID:35347128" "PMID:28240269" + "OMIM:300004" + "ICD10:Q87.8" + "PMID:35347128" "UMLS:C3489396" "UMLS:C0271623" "SNOMEDCT_US:33927004" @@ -11343,9 +11343,9 @@ "GARD:646" "MESH:C538241" "OMIM:614253" + "PMID:23315938" "OMIM:112410" "ICD10:I10" - "PMID:23315938" "PMID:35347128" "Orphanet:309279" "GARD:10670" @@ -12262,13 +12262,14 @@ "ICD10:Q87.8" "UMLS:C0265248" "OMIM:180870" + "KEGG COMPOUND:C00322" + "HMDB:0000225" + "PMID:29875488" "UMLS:C3554576" "GARD:17528" "Orphanet:352712" "OMIM:615139" "MEDGEN:767490" - "KEGG COMPOUND:C00322" - "HMDB:0000225" "MEDGEN:87660" "UMLS:C0376175" "SCTID:193093009" @@ -12288,7 +12289,6 @@ "DOID:0060950" "SNOMEDCT_US:70992005" "UMLS:C0152252" - "PMID:29875488" "MAT:0000343" "XAO:0000209" "TAO:0000190" @@ -12858,11 +12858,11 @@ "DOID:0110819" "MEDGEN:1800260" "AAO:0000146" + "VHOG:0001145" "MA:0000255" "GAID:869" - "EV:0100359" "EMAPA:17601" - "VHOG:0001145" + "EV:0100359" "FMA:9705" "Wikipedia:Eustachian_tube" "XAO:0000213" @@ -12927,9 +12927,9 @@ "DOID:0081364" "UMLS:C4310693" "MEDGEN:934660" - "PMID:35347128" "UMLS:C1384606" "SNOMEDCT_US:71315007" + "PMID:35347128" "GARD:16556" "MEDGEN:320374" "icd11.foundation:1206883656" @@ -13228,9 +13228,9 @@ "MP:0002411" "OMIM:181430" "UMLS:C0026848" - "OMIM:300695" "NCIt:C101216" "MedDRA:10028649" + "OMIM:300695" "MEDGEN:10135" "ICD9:728.3" "DOID:423" @@ -13346,6 +13346,10 @@ "MONDO:0005009" "UMLS:C1859523" "BTO:0001265" + "MeSH:C557675" + "MedDRA:10010654" + "ICD10:Q32.0" + "UMLS:C0392109" "PMID:24478225" "Patent:US4009197" "KEGG:D00118" @@ -13359,10 +13363,6 @@ "HMDB:HMDB0001923" "LINCS:LSM-5689" "DrugBank:DB00788" - "MeSH:C557675" - "MedDRA:10010654" - "ICD10:Q32.0" - "UMLS:C0392109" "NCIT:C12759" "BIRNLEX:1319" "UMLS:C1268984" @@ -13790,6 +13790,15 @@ "UMLS:C5774237" "OMIM:620085" "MEDGEN:1824010" + "SCTID:40055000" + "ICD9:473.9" + "UMLS:C0149516" + "MEDGEN:101751" + "MONDO:0006031" + "NCIT:C35151" + "icd11.foundation:1836987572" + "ICD9:473.8" + "PMID:25838086" "NCIT:C40164" "DOID:13951" "MEDGEN:275554" @@ -13809,15 +13818,6 @@ "Orphanet:89838" "UMLS:C3715082" "OMIM:601001" - "SCTID:40055000" - "ICD9:473.9" - "UMLS:C0149516" - "MONDO:0006031" - "MEDGEN:101751" - "NCIT:C35151" - "icd11.foundation:1836987572" - "ICD9:473.8" - "PMID:25838086" "PMID:21706015" "UMLS:C4551721" "Orphanet:642945" @@ -14010,9 +14010,9 @@ "NCIT:C78649" "MEDGEN:120507" "MONDO:0000471" + "PMID:35347128" "SNOMEDCT_US:55300003" "UMLS:C0026821" - "PMID:35347128" "ICD10CM:H35.5" "MESH:C536490" "GARD:15241" @@ -14159,8 +14159,9 @@ "UMLS:C0023348" "MONDO:0005127" "MESH:D015440" - "FBbt:00005551" + "PMID:35995766" "PMID:35050183" + "FBbt:00005551" "GARD:4069" "MEDGEN:342472" "OMIM:258200" @@ -14169,7 +14170,6 @@ "Orphanet:2920" "SCTID:721017000" "UMLS:C1850320" - "PMID:35995766" "NCIt:C73425" "Wikipedia:Sleep" "MeSH:D012890" @@ -14325,6 +14325,18 @@ "NCIT:C6311" "MEDGEN:233163" "DOID:4114" + "PMID:35995766" + "SCTID:27382006" + "MEDGEN:1419" + "PMID:24350019" + "MedDRA:10056506" + "DOID:9905" + "MONDO:0006551" + "ICD10CM:L65.2" + "MESH:D000507" + "UMLS:C0002173" + "ICD9:704.09" + "NCIT:C82859" "OMIM:600496" "OMIM:612225" "OMIM:616511" @@ -14339,18 +14351,6 @@ "OMIM:125851" "ICD10:E11.8" "OMIM:606392" - "PMID:35995766" - "SCTID:27382006" - "MEDGEN:1419" - "PMID:24350019" - "MedDRA:10056506" - "DOID:9905" - "MONDO:0006551" - "ICD10CM:L65.2" - "MESH:D000507" - "UMLS:C0002173" - "ICD9:704.09" - "NCIT:C82859" "SCTID:254922006" "MESH:C537750" "NCIT:C4526" @@ -14505,6 +14505,14 @@ "DOID:0112232" "UMLS:C1969029" "PMID:20045101" + "SCTID:361203007" + "icd11.foundation:1373430210" + "UMLS:C0342793" + "Orphanet:943" + "MESH:C535702" + "MEDGEN:91001" + "OMIM:248360" + "GARD:3371" "EMAPA:35493" "FMA:30319" "VHOG:0001272" @@ -14521,14 +14529,6 @@ "SCTID:182358004" "UMLS:C0023685" "ZFA:0001675" - "SCTID:361203007" - "icd11.foundation:1373430210" - "UMLS:C0342793" - "Orphanet:943" - "MESH:C535702" - "MEDGEN:91001" - "OMIM:248360" - "GARD:3371" "OMIM:620356" "UMLS:C5830473" "MEDGEN:1841109" @@ -14559,6 +14559,7 @@ "DOID:7922" "UMLS:C1334679" "PMID:21514197" + "PMID:29875488" "NCIt:C35034" "MedDRA:10041676" "UMLS:C0038018" @@ -14578,7 +14579,6 @@ "MEDGEN:461477" "OMIM:615992" "UMLS:C3150127" - "PMID:29875488" "PMID:29875488" "UMLS:C1291245" "Orphanet:168588" @@ -14669,29 +14669,28 @@ "MEDGEN:337979" "OMIM:259690" "MESH:C537706" - "MeSH:D018298" - "SNOMEDCT:39892006" - "DOID:163" "PMID:20518020" "RRID:CVCL_6C44" "Orphanet:369881" "MEDGEN:1666351" "GARD:21581" "UMLS:C4749458" + "MeSH:D018298" + "SNOMEDCT:39892006" + "DOID:163" "NCIt:C6261" "MedDRA:10073273" "Orphanet:314822" "NCIt:C25989" "OMIM:613672" "ICD10:G11.4" - "OMIM:616335" - "OMIM:251270" - "ICD10:Q87.8" - "PMID:37164013" "SCTID:126909004" "UMLS:C1263777" "NCIT:C6300" "MEDGEN:226810" + "OMIM:616335" + "OMIM:251270" + "ICD10:Q87.8" "PMID:19704561" "BPDB:2440" "KEGG:C08491" @@ -14708,6 +14707,7 @@ "MeSH:C011006" "KNApSAcK:C00000218" "Chemspider:4444606" + "PMID:37164013" "ICD9:305.60" "UMLS:C0009171" "DOID:809" @@ -15034,7 +15034,6 @@ "NIFSTD:birnlex_399" "NCIt:C25796" "PMID:29875488" - "PMID:27560520" "MeSH:D050218" "DOID:0112105" "UMLS:C3806722" @@ -15049,6 +15048,7 @@ "UMLS:C1299237" "DOID:0040096" "Reaxys:8378760" + "PMID:27560520" "NCIt:C15599" "SNOMEDCT:266717002" "MeSH:D020249" @@ -15996,11 +15996,6 @@ "icd11.foundation:1200845933" "FMA:84789" "ZFA:0009020" - "ICD10:K68.12" - "MeSH:D016659" - "MedDRA:10056517" - "ICD9:567.31" - "SNOMEDCT:266463007" "MESH:C535653" "MONDO:0007047" "Orphanet:38" @@ -16009,6 +16004,11 @@ "DOID:0060362" "GARD:125" "OMIM:101850" + "ICD10:K68.12" + "MeSH:D016659" + "MedDRA:10056517" + "ICD9:567.31" + "SNOMEDCT:266463007" "PMID:29875488" "KEGG:C05584" "BAMS:OL" @@ -16021,8 +16021,8 @@ "MAT:0000507" "SCTID:180923002" "UMLS:C0028785" - "Wikipedia:Occipital_lobe" "BTO:0000293" + "Wikipedia:Occipital_lobe" "neuronames:140" "NCIT:C12355" "EV:0100170" @@ -16691,8 +16691,8 @@ "SNOMEDCT_US:126713003" "NCIT:C3262" "UMLS:C0024121" - "PMID:29875488" "SNOMEDCT:413622000" + "PMID:29875488" "NCIt:C79614" "UMLS:C4054550" "NCIt:C123172" @@ -16827,9 +16827,9 @@ "OMIM:618744" "Orphanet:156005" "ICD10:Q69.2" - "PMID:36168886" "PMID:35888728" "PMID:28369058" + "PMID:36168886" "PMID:38565889" "PMID:37794183" "Orphanet:209932" @@ -16920,14 +16920,6 @@ "UMLS:C1857277" "OMIM:222448" "MeSH:C536390" - "UMLS:C0541767" - "UMLS:C5671327" - "Orphanet:860" - "NANDO:1200698" - "GARD:5476" - "DOID:0060770" - "MEDGEN:1812310" - "OMIMPS:608808" "SNOMEDCT:58762006" "icd11.foundation:689481271" "MedDRA:10051818" @@ -16940,6 +16932,14 @@ "UMLS:C0014068" "MEDGEN:4936" "NCIt:C98920" + "UMLS:C0541767" + "UMLS:C5671327" + "Orphanet:860" + "NANDO:1200698" + "GARD:5476" + "DOID:0060770" + "MEDGEN:1812310" + "OMIMPS:608808" "SNOMEDCT:8455004" "FMA:59155" "MESH:D001050" @@ -17018,19 +17018,19 @@ "OMIM:155050" "MedDRA:10075843" "ICD10:Q75.8" - "UMLS:C4022996" "UMLS:CN228933" "Orphanet:140477" + "UMLS:C4022996" "PMID:37164013" "GARD:18448" "MEDGEN:1779962" "OMIM:619175" "DOID:0060919" "UMLS:C5543027" + "PMID:35347128" "UMLS:C5436756" "OMIM:619080" "MEDGEN:1742639" - "PMID:35347128" "EV:0100027" "FMA:3734" "galen:Aorta" @@ -17408,13 +17408,13 @@ "UMLS:C0878773" "NANDO:2200838" "NANDO:1200951" - "PMID:36006120" "MEDGEN:481471" "MESH:C566729" "UMLS:C3279841" "GARD:17236" "OMIM:614111" "Orphanet:255138" + "PMID:36006120" "PMID:30287865" "PMID:28240269" "MEDGEN:697574" @@ -17572,6 +17572,7 @@ "OMIM:233430" "MEDGEN:344696" "Orphanet:1770" + "PMID:29875488" "MEDGEN:375481" "GARD:2580" "icd11.foundation:118076382" @@ -17581,7 +17582,6 @@ "SCTID:715426004" "UMLS:C1844671" "UMLS:C1865916" - "PMID:29875488" "MEDGEN:235326" "DOID:4892" "NCIT:C6848" @@ -17701,10 +17701,10 @@ "icd11.foundation:46666832" "UMLS:C1846044" "SCTID:763311001" - "PMID:35347128" "SNOMEDCT:54000004" "NCIt:C74488" "FBbt:00005619" + "PMID:35347128" "ICD10:E72.8" "OMIM:300438" "MONDO:0005995" @@ -17761,7 +17761,6 @@ "ICD10:Q78.4" "OMIM:614569" "NCIT:C3213" - "PMID:21962510" "GARD:498" "DOID:5768" "SCTID:35520007" @@ -17778,6 +17777,7 @@ "OMIM:618822" "SNOMEDCT:83327008" "MeSH:D002107" + "PMID:21962510" "HP:0006528" "MedDRA:10083002" "SNOMEDCT:413839001" @@ -17815,8 +17815,6 @@ "Orphanet:641361" "MEDGEN:1794215" "FBbt:00005670" - "Wikipedia:Diastasis_symphysis_pubis" - "MeSH:D046548" "Orphanet:289365" "SCTID:763716008" "MEDGEN:1637583" @@ -17828,6 +17826,8 @@ "MEDGEN:235529" "NCIT:C27549" "UMLS:C1335666" + "Wikipedia:Diastasis_symphysis_pubis" + "MeSH:D046548" "PMID:29875488" "SCTID:254959007" "MEDGEN:391700" @@ -17844,10 +17844,10 @@ "OMIM:619112" "GARD:18268" "BTO:0004721" + "PMID:35347128" "BTO:0002419" "RRID:CVCL_0033" "CLO:0037295" - "PMID:35347128" "MONDO:0005641" "SCTID:62251004" "MeSH:D000453" @@ -17876,7 +17876,6 @@ "NCIt:C74718" "SNOMEDCT:117173006" "MedDRA:10044089" - "PMID:35050183" "NCIT:C4777" "MEDGEN:181751" "DOID:0060087" @@ -17889,6 +17888,7 @@ "GARD:4076" "OMIM:258315" "Orphanet:93329" + "PMID:35050183" "UMLS:C1867446" "UMLS:C1837260" "PMID:35995766" @@ -18736,8 +18736,8 @@ "UMLS:C5235139" "GARD:16942" "Orphanet:101010" - "MeSH:D042101" "SCTID:19968009" + "MeSH:D042101" "DOID:2828" "MEDGEN:82762" "NCIT:C35578" @@ -18837,7 +18837,6 @@ "MEDGEN:75907" "DOID:6053" "NCIT:C7928" - "PMID:24816252" "UMLS:C1851943" "NANDO:1200515" "GARD:10138" @@ -18846,6 +18845,7 @@ "Orphanet:98805" "DOID:0090041" "OMIM:128101" + "PMID:24816252" "UMLS:C4025670" "GARD:9634" "SCTID:401138005" @@ -19039,7 +19039,6 @@ "MEDGEN:356389" "OMIM:602092" "UMLS:C1865870" - "PMID:31551469" "ONCOTREE:TRCC" "MEDGEN:235005" "DOID:0081415" @@ -19048,6 +19047,7 @@ "NCIT:C27891" "MONDO:0006397" "ICDO:0000/0" + "PMID:31551469" "PMID:37794183" "HMDB:HMDB0000005" "MetaCyc:2-OXOBUTANOATE" @@ -19286,8 +19286,8 @@ "BTO:0001426" "MA:0000379" "VHOG:0001264" - "FMA:19667" "MAT:0000121" + "FMA:19667" "EV:0100099" "galen:Urethra" "SNOMEDCT_US:233703007" @@ -19332,6 +19332,14 @@ "SNOMEDCT:309842008" "UMLS:C2267233" "SNOMEDCT_US:205294008" + "GARD:16674" + "Orphanet:66637" + "OMIM:608022" + "icd11.foundation:508093071" + "MEDGEN:374993" + "MESH:C564305" + "SCTID:721094006" + "UMLS:C1842691" "HP:0011779" "ICD10:C73" "MESH:D065646" @@ -19348,14 +19356,6 @@ "SCTID:255031003" "GARD:0000664" "Orphanet:142" - "GARD:16674" - "Orphanet:66637" - "OMIM:608022" - "icd11.foundation:508093071" - "MEDGEN:374993" - "MESH:C564305" - "SCTID:721094006" - "UMLS:C1842691" "SNOMEDCT_US:394680009" "UMLS:C1273957" "PMID:35347128" @@ -20894,8 +20894,8 @@ "NCIT:C3248" "NANDO:2100200" "NANDO:2200692" - "MEDGEN:313374" "EFO:1000340" + "MEDGEN:313374" "UMLS:C1708792" "NCIT:C45519" "MONDO:0006283" @@ -21399,10 +21399,10 @@ "UMLS:C5679811" "GARD:20503" "MEDGEN:1843053" + "OMIM:614122" "SNOMEDCT:90961003" "FMA:83542" "BTO:0003454" - "OMIM:614122" "PMID:9354455" "BTO:0001521" "MONDO:0001780" @@ -21614,8 +21614,8 @@ "EFO:0003825" "CALOHA:TS-1040" "FMA:72208" - "PMID:37794183" "PMID:31467194" + "PMID:37794183" "BTO:0004082" "CLO:0003659" "RRID:CVCL_2063" @@ -21629,8 +21629,6 @@ "UMLS:C3809454" "GARD:18457" "MEDGEN:815784" - "OMIM:607317" - "ICD10:G11.1" "EMAPA:17532" "EHDAA:5433" "NIFSTD:birnlex_1710" @@ -21682,6 +21680,8 @@ "ChemIDplus:103-90-2" "PMID:25128677" "PMID:22114686" + "OMIM:607317" + "ICD10:G11.1" "PMID:29875488" "EFO:1000596" "NCIT:C8461" @@ -21905,16 +21905,16 @@ "BTO:0000573" "MAT:0000034" "MA:0000061" + "MEDGEN:220426" + "NCIT:C121619" + "UMLS:C1266158" + "ONCOTREE:NSGCT" "UMLS:C4280390" "SNOMEDCT_US:249339005" "UMLS:C0426436" "SNOMEDCT_US:249336003" "UMLS:C0426439" "UMLS:C1849366" - "MEDGEN:220426" - "NCIT:C121619" - "UMLS:C1266158" - "ONCOTREE:NSGCT" "icd11.foundation:1871996278" "MEDGEN:1826032" "Orphanet:262968" @@ -22021,8 +22021,6 @@ "MESH:D010468" "UMLS:C0030975" "PMID:33441150" - "PMID:37794183" - "Wikipedia:Pollination" "GARD:0006969" "NCIT:C4337" "icd11.foundation:1804127841" @@ -22042,6 +22040,8 @@ "SCTID:443487006" "Orphanet:52416" "ICD9:200.40" + "PMID:37794183" + "Wikipedia:Pollination" "UMLS:C1850268" "OMIM:258840" "GARD:8432" @@ -22121,8 +22121,6 @@ "SCTID:254820002" "GARD:0000838" "ICD10:L98.8" - "Orphanet:118975" - "OMIM:209900" "PMID:37794183" "PMID:37794183" "icd11.foundation:1161028858" @@ -22135,6 +22133,8 @@ "Orphanet:85195" "ICD9:756.9" "GARD:9168" + "Orphanet:118975" + "OMIM:209900" "Orphanet:177107" "PMID:29875488" "Orphanet:397692" @@ -22232,12 +22232,12 @@ "SCTID:71464000" "MEDGEN:335822" "OMIM:607864" + "PMID:28240269" "OMIM:129400" "MeSH:C535289" "UMLS:C1785148" "OMIM:106260" "ICD10:Q82.4" - "PMID:28240269" "Orphanet:222628" "GARD:20545" "UMLS:C5680891" @@ -22636,13 +22636,13 @@ "DOID:117" "NCIT:C3548" "MESH:D006338" - "PMID:29875488" "MESH:D012874" "UMLS:C0156279" "ICD9:597.81" "MEDGEN:510225" "DOID:13498" "SCTID:31273004" + "PMID:29875488" "Wikipedia:Syncytiotrophoblast" "FMA:83040" "NCIT:C33918" @@ -22809,17 +22809,6 @@ "ICD9:V86" "NCIt:C16150" "ICD9:V86-V86.99" - "NCIT:C5350" - "MEDGEN:374834" - "OMIM:138000" - "GARD:16728" - "MedDRA:10018381" - "Orphanet:83454" - "UMLS:C1841984" - "SCTID:715644000" - "icd11.foundation:2095305475" - "DOID:7996" - "MESH:C536827" "UMLS:C0025285" "NLXANAT:090204" "MA:0001113" @@ -22836,6 +22825,17 @@ "CALOHA:TS-1177" "VHOG:0001295" "MESH:D008578" + "NCIT:C5350" + "MEDGEN:374834" + "OMIM:138000" + "GARD:16728" + "MedDRA:10018381" + "Orphanet:83454" + "UMLS:C1841984" + "SCTID:715644000" + "icd11.foundation:2095305475" + "DOID:7996" + "MESH:C536827" "ZFS:0000017" "MedDRA:10056306" "NCIm:C0085491" @@ -23284,13 +23284,13 @@ "MEDGEN:4122" "GARD:8194" "MedDRA:10011775" - "PMID:23823483" "SCTID:78999002" "UMLS:C0029119" "ICD9:118" "ICD9:117.9" "MEDGEN:508004" "DOID:2473" + "PMID:23823483" "MEDGEN:1381843" "SCTID:733091002" "UMLS:C4518577" @@ -23309,9 +23309,9 @@ "MedDRA:10084239" "UMLS:C0796110" "OMIM:311450" - "PMID:35668104" "PMID:28369058" "PMID:27182965" + "PMID:35668104" "MEDGEN:41610" "MESH:D004198" "UMLS:C0012655" @@ -23482,9 +23482,6 @@ "MEDGEN:349229" "PMID:31530798" "DOID:0050703" - "BTO:0005046" - "BTO:0000023" - "RRID:CVCL_8890" "MONDO:0005819" "NCIT:C26895" "ICD9:012.31" @@ -23497,6 +23494,9 @@ "ICD9:012.30" "DOID:1583" "UMLS:C0041315" + "BTO:0005046" + "BTO:0000023" + "RRID:CVCL_8890" "UMLS:C1370503" "NCIT:C5790" "DOID:7233" @@ -23726,8 +23726,6 @@ "MAT:0000181" "FMA:23217" "EMAPA:18025" - "OMIM:613217" - "ICD10:P78.3" "MedDRA:10068871" "NANDO:2200864" "icd11.foundation:192087511" @@ -23742,6 +23740,8 @@ "MEDGEN:10239" "NANDO:1200495" "OMIMPS:160900" + "OMIM:613217" + "ICD10:P78.3" "PMID:35347128" "SCTID:716335003" "OMIM:185480" @@ -23795,15 +23795,15 @@ "PMID:37794183" "PMID:29875488" "ICD10:D64.0" + "OMIM:605714" + "ICD10:I68.0*" + "ICD10:E85.4+" "UMLS:C4311049" "OMIM:300979" "GARD:17955" "MEDGEN:935016" "NCIT:C177544" "Orphanet:521258" - "OMIM:605714" - "ICD10:I68.0*" - "ICD10:E85.4+" "MONDO:0005998" "DOID:8399" "MeSH:D014323" @@ -23871,8 +23871,8 @@ "MA:0000333" "XAO:0000131" "CALOHA:TS-1306" - "UMLS:C0021851" "Wikipedia:Large_intestine_(anatomy)" + "UMLS:C0021851" "MESH:D007420" "MIAA:0000046" "PMID:37794183" @@ -24237,8 +24237,8 @@ "Orphanet:317416" "ICD10:Q93.1" "ICD10:Q93.0" - "UMLS:C0599297" "TAO:0005285" + "UMLS:C0599297" "ZFA:0005285" "Wikipedia:Glomerular_basement_membrane" "EMAPA:28251" @@ -24477,8 +24477,8 @@ "MEDGEN:815853" "OMIM:615439" "DOID:0110025" - "UMLS:C4021601" "PMID:35347128" + "UMLS:C4021601" "ICDO:8244/3" "NCIT:C4139" "MEDGEN:83124" @@ -24627,6 +24627,9 @@ "MeSH:D013120" "UMLS:C0037930" "PMID:29875488" + "VFB:FBbt_00005673" + "FBbt:00005673" + "Orphanet:206653" "GARD:9363" "UMLS:C3665489" "SCTID:764791008" @@ -24635,9 +24638,6 @@ "MONDO:0016093" "MEDGEN:777110" "Orphanet:206473" - "VFB:FBbt_00005673" - "FBbt:00005673" - "Orphanet:206653" "MEDGEN:760752" "GARD:16805" "icd11.foundation:2041886796" @@ -24835,11 +24835,6 @@ "NCIT:C118423" "GARD:1051" "OMIM:114000" - "SCTID:725045004" - "MEDGEN:1388250" - "Orphanet:251510" - "GARD:17211" - "UMLS:C4510744" "UMLS:C1838979" "MEDGEN:374101" "DOID:0060536" @@ -24847,6 +24842,11 @@ "NANDO:1200180" "GARD:3908" "MESH:C537475" + "SCTID:725045004" + "MEDGEN:1388250" + "Orphanet:251510" + "GARD:17211" + "UMLS:C4510744" "SCTID:764435003" "MEDGEN:482767" "OMIM:614526" @@ -24925,11 +24925,11 @@ "GARD:18747" "Orphanet:1772" "PMID:28240269" + "PMID:21085120" "Orphanet:397695" "UMLS:C4749427" "MEDGEN:1651953" "GARD:21633" - "PMID:21085120" "ICD10CM:I86.2" "DOID:9742" "MEDGEN:510082" @@ -24996,7 +24996,6 @@ "SCTID:15566009" "MeSH:D004313" "MESH:D004313" - "PMID:37794183" "MESH:D017192" "MedDRA:10029147" "NANDO:1200742" @@ -25013,6 +25012,7 @@ "UMLS:C0162283" "SCTID:111395007" "MESH:D018500" + "PMID:37794183" "ORCiD:0000-0002-2244-7917" "TAO:0000669" "GOC:cvs" @@ -25118,8 +25118,8 @@ "LIPID_MAPS_instance:LMST01030103" "KEGG:C15787" "CAS:474-60-2" - "Orphanet:306486" "NCIt:C4204" + "Orphanet:306486" "DOID:4975" "MESH:D000189" "MeSH:D000189" @@ -25492,8 +25492,8 @@ "UMLS:C2931483" "MeSH:C537399" "PMID:29875488" - "PMID:28240269" "PMID:23823483" + "PMID:28240269" "NCIt:C135440" "UMLS:C0200642" "OMIM:610370" @@ -25786,9 +25786,9 @@ "EMAPA:37282" "FMA:22984" "SCTID:181517009" - "PMID:29875488" "UMLS:C0454642" "SNOMEDCT_US:229736005" + "PMID:29875488" "PMID:29875488" "Orphanet:89840" "NANDO:2201379" @@ -26092,13 +26092,13 @@ "ICD9:371.56" "Orphanet:101068" "MEDGEN:400601" + "Orphanet:519302" "Orphanet:2549" "MEDGEN:67392" "GARD:3653" "SCTID:726722009" "UMLS:C0220681" "OMIM:141400" - "Orphanet:519302" "UMLS:C5193057" "GARD:18018" "MEDGEN:1684142" @@ -26342,8 +26342,8 @@ "UMLS:C0393551" "UMLS:C1390474" "PMID:29875488" - "PMID:37794183" "Orphanet:2338" + "PMID:37794183" "OMIM:614195" "MEDGEN:481729" "UMLS:C3280099" @@ -26490,11 +26490,11 @@ "Reaxys:32385-58-3" "ChEMBL:1014759" "UMLS:C4024900" + "SNOMEDCT_US:80313002" + "UMLS:C0030252" "OMIM:185100" "UMLS:C1861449" "MEDGEN:350026" - "SNOMEDCT_US:80313002" - "UMLS:C0030252" "UMLS:C2827511" "NCIt:C84822" "EFO:1000435" @@ -26540,8 +26540,6 @@ "DOID:11885" "MESH:D014516" "MEDGEN:102303" - "OMIM:614199" - "ICD10:N04" "icd11.foundation:1436361154" "NCIT:C84353" "MEDGEN:140795" @@ -26553,6 +26551,8 @@ "NCIT:C4397" "BTO:0002875" "RRID:CVCL_3871" + "OMIM:614199" + "ICD10:N04" "PMID:10702418" "UMLS:C0685409" "SNOMEDCT_US:29271008" @@ -27105,6 +27105,12 @@ "Reactome:R-HSA-1793207" "MetaCyc:3.1.6.12-RXN" "PMID:28240269" + "Orphanet:2230" + "UMLS:C4303079" + "ICD10CM:E23.0" + "SCTID:721842008" + "MEDGEN:928748" + "GARD:324" "ICD10CM:B72" "ICD9:125.7" "MEDGEN:41653" @@ -27120,12 +27126,6 @@ "MONDO:0016472" "Orphanet:231" "MESH:D004320" - "Orphanet:2230" - "UMLS:C4303079" - "ICD10CM:E23.0" - "SCTID:721842008" - "MEDGEN:928748" - "GARD:324" "OMIM:600331" "Orphanet:2825" "MESH:C537174" @@ -27283,8 +27283,8 @@ "TAO:0005250" "ZFA:0005250" "PMID:37794183" - "ZFA:0005004" "PMID:24816252" + "ZFA:0005004" "SNOMEDCT:432195008" "SNOMEDCT:3583002" "NCIt:C73851" @@ -27384,7 +27384,6 @@ "MEDGEN:152909" "NCIT:C9338" "EMAPA:17608" - "FMA:54375" "EHDAA2:0004104" "UMLS:C0027432" "VHOG:0000017" @@ -27398,6 +27397,7 @@ "AAO:0000559" "GAID:115" "MA:0000285" + "FMA:54375" "FMA:17558" "BTO:0001424" "WBbt:0006760" @@ -27592,22 +27592,22 @@ "PMID:23823483" "Chemspider:65998789" "Orphanet:165707" + "OMIM:605714" + "ICD10:I68.0*" + "ICD10:E85.4+" "OMIM:304110" "MeSH:C536456" "UMLS:C0220767" "ICD10:Q87.1" "PMID:31530798" - "OMIM:605714" - "ICD10:I68.0*" - "ICD10:E85.4+" "UMLS:C1849811" "OMIM:261990" "MeSH:C537398" "PMID:28240269" "PMID:23823483" - "MeSH:D016665" "UMLS:C3272957" "NCIt:C96679" + "MeSH:D016665" "MESH:D005258" "Orphanet:47612" "MEDGEN:4674" @@ -28077,9 +28077,9 @@ "DOID:5850" "MedDRA:10057546" "MONDO:0006803" - "PMID:29875488" "UMLS:C0036857" "SNOMEDCT_US:40700009" + "PMID:29875488" "PMID:22334592" "PMID:21865725" "HMDB:HMDB0002385" @@ -28249,6 +28249,12 @@ "ICD10:Q87.8" "OMIM:612916" "PMID:35347128" + "DOID:4876" + "EFO:1000599" + "MONDO:0003184" + "NCIT:C9347" + "UMLS:C1744708" + "MEDGEN:315650" "SCTID:717010007" "GARD:1250" "Orphanet:99937" @@ -28261,12 +28267,6 @@ "KEGG:C12600" "Beilstein:326470" "Drug_Central:3439" - "DOID:4876" - "EFO:1000599" - "MONDO:0003184" - "NCIT:C9347" - "UMLS:C1744708" - "MEDGEN:315650" "MedDRA:10010790" "ICD9:692.9" "DOID:2773" @@ -28745,6 +28745,7 @@ "ICD9:192" "MEDGEN:99231" "NCIT:C4788" + "NCIt:C7290" "UMLS:C1858392" "GARD:18179" "MESH:C565780" @@ -28758,7 +28759,6 @@ "Orphanet:2863" "UMLS:C1861448" "MEDGEN:350025" - "NCIt:C7290" "UMLS:C2827512" "NCIt:C84823" "UMLS:C1857527" @@ -28832,11 +28832,11 @@ "MedDRA:10038534" "ICD9:016.00" "SCTID:44323002" - "OMIM:605407" - "ICD10:G24.1" "ISBN-13:978-0632067107" "ISBN-10:0632067101" "ICD10:M72" + "OMIM:605407" + "ICD10:G24.1" "SNOMEDCT:133599002" "ZFA:0009333" "PMID:37794183" @@ -28845,8 +28845,6 @@ "OMIM:143050" "ICD10:Q74.0" "PMID:37794183" - "FBbt:00005567" - "VFB:FBbt_00001315" "MEDGEN:890580" "GARD:3360" "SCTID:145831000119103" @@ -28856,6 +28854,8 @@ "NCIT:C4925" "UMLS:C4048549" "GARD:0003360" + "FBbt:00005567" + "VFB:FBbt_00001315" "PMID:29875488" "SCTID:717821004" "GARD:17254" @@ -29516,7 +29516,6 @@ "OMIM:192800" "MeSH:C536344" "ICD10:Q87.5" - "PMID:27179730" "PMID:5835442" "KEGG:C05565" "Reaxys:83925" @@ -29524,6 +29523,7 @@ "PMID:13960896" "PMID:3760095" "HMDB:HMDB0001212" + "PMID:27179730" "UMLS:C1302864" "NCIT:C27255" "ICDO:8413/3" @@ -29705,14 +29705,14 @@ "UMLS:C2936739" "UMLS:C3489795" "PMID:29875488" - "OMIM:241550" - "MEDGEN:1646779" - "UMLS:C4551854" "UMLS:C1510796" "DOID:5623" "MEDGEN:267645" "NCIT:C40361" "ONCOTREE:MASC" + "OMIM:241550" + "MEDGEN:1646779" + "UMLS:C4551854" "MEDGEN:98" "NCIT:C34347" "SCTID:25904003" @@ -30222,13 +30222,13 @@ "DOID:6067" "MEDGEN:235419" "PMID:29875488" + "PMID:35347128" "MESH:D011557" "MONDO:0005932" "UMLS:C0033839" "MeSH:D011557" "DOID:3902" "MEDGEN:18730" - "PMID:35347128" "CAS:147700-11-6" "Beilstein:8153842" "MeSH:C081320" @@ -30807,6 +30807,7 @@ "OMIM:277480" "MeSH:D056729" "ICD10:D68.0" + "UMLS:C0343102" "MEDGEN:83415" "SCTID:254876005" "NCIT:C8107" @@ -30824,7 +30825,6 @@ "NCIT:C32223" "SCTID:304149004" "MIAA:0000151" - "UMLS:C0343102" "SNOMEDCT:11530004" "MeSH:D003922" "NCIt:C2986" @@ -31130,15 +31130,15 @@ "SNOMEDCT_US:1744008" "UMLS:C0016873" "PMID:29875488" - "PMID:32641083" - "UMLS:C0581142" - "NCIt:C128974" - "MedDRA:1005MedDRA:1006" "SCTID:126832004" "UMLS:C0345832" "NCIT:C4432" "MEDGEN:91055" "DOID:7505" + "PMID:32641083" + "UMLS:C0581142" + "NCIt:C128974" + "MedDRA:1005MedDRA:1006" "UMLS:C0020456" "NCIt:C26797" "DOID:4195" @@ -31240,12 +31240,6 @@ "DOID:8717" "MedDRA:10011985" "ICD10:L89" - "ICD10:D51.9" - "ICD10:D51.8" - "ICD10:D51.3" - "ICD10:D51.2" - "ICD10:D51.1" - "ICD10:D51.0" "SCTID:763797003" "UMLS:C0796124" "GARD:4528" @@ -31259,6 +31253,12 @@ "UMLS:C2931722" "Orphanet:2235" "GARD:1234" + "ICD10:D51.9" + "ICD10:D51.8" + "ICD10:D51.3" + "ICD10:D51.2" + "ICD10:D51.1" + "ICD10:D51.0" "MEDGEN:129219" "icd11.foundation:792755706" "NCIT:C36171" @@ -31322,7 +31322,6 @@ "PMID:23564374" "CiteXplore:22209975" "PMID:35668104" - "PMID:33634981" "PMID:31099426" "Beilstein:5364666" "PMID:18062751" @@ -31351,6 +31350,7 @@ "PMID:12959312" "Reaxys:5364666" "NCIt:C1599" + "PMID:33634981" "ICD10:N25.8" "OMIM:611590" "DOID:4337" @@ -31572,8 +31572,8 @@ "MeSH:D015231" "UMLS:C0036917" "MESH:D015231" - "MEDGEN:20728" "ICD10:A63" + "MEDGEN:20728" "Orphanet:52" "DOID:9245" "UMLS:C0085280" @@ -31743,15 +31743,15 @@ "OMIM:612934" "ICD10:E74.0" "PMID:29875488" + "UMLS:C5394674" + "Orphanet:329173" + "GARD:17494" + "MEDGEN:1720168" "UMLS:C0175692" "MeSH:C535880" "MedDRA:10074947" "OMIM:243800" "ICD10:Q87.8" - "UMLS:C5394674" - "Orphanet:329173" - "GARD:17494" - "MEDGEN:1720168" "PMID:29875488" "DOID:5624" "MEDGEN:163666" @@ -32221,8 +32221,8 @@ "MEDGEN:728086" "MONDO:0000536" "DOID:0050921" - "PMID:37794183" "OMIM:300886" + "PMID:37794183" "ZFA:0009017" "NCIt:C13014" "CALOHA:TS-1195" @@ -32238,6 +32238,9 @@ "PMID:28240269" "http://orcid.org/0000-0001-9043-693X" "Orphanet:436151" + "UMLS:C5543206" + "MEDGEN:1787876" + "OMIM:619234" "MedDRA:10069461" "NANDO:1200790" "NANDO:2200470" @@ -32249,9 +32252,6 @@ "SCTID:415764005" "OMIM:276710" "DOID:0050727" - "UMLS:C5543206" - "MEDGEN:1787876" - "OMIM:619234" "NCIT:C99015" "Orphanet:2880" "ICD9:277.89" @@ -32381,7 +32381,6 @@ "MESH:C536840" "UMLS:C0431637" "MeSH:C537371" - "PMID:23823483" "MEDGEN:335399" "SCTID:700111000" "OMIM:607364" @@ -32389,6 +32388,7 @@ "DOID:0110144" "UMLS:C1846343" "GARD:9659" + "PMID:23823483" "PMID:28928442" "PMID:29875488" "Orphanet:295079" @@ -32478,6 +32478,7 @@ "MedDRA:10034354" "SNOMEDCT:88169003" "MONDO:0004260" + "PMID:35995766" "SNOMEDCT:58756001" "ICD9:333.4" "MeSH:D006816" @@ -32487,7 +32488,6 @@ "CLO:0008074" "BTO:0005293" "RRID:CVCL_1550" - "PMID:35995766" "RRID:CVCL_7044" "GARD:4947" "OMIM:271225" @@ -32552,7 +32552,6 @@ "MedDRA:10053432" "NORD:998" "PMID:28240269" - "PMID:35347128" "PMID:1146729" "PMID:31957471" "PMID:17823432" @@ -32617,6 +32616,7 @@ "FooDB:FDB002431" "HMDB:HMDB0001492" "PMID:11811542" + "PMID:35347128" "DOID:0050722" "MESH:C566618" "MEDGEN:400935" @@ -33161,6 +33161,7 @@ "MONDO:0006566" "DOID:161" "PMID:29875488" + "PMID:26068415" "PMID:32641083" "UMLS:C2698870" "NCIt:C74619" @@ -33180,7 +33181,6 @@ "MEDGEN:1785588" "OMIM:619226" "UMLS:C5543184" - "PMID:26068415" "PMID:24816252" "PMID:12636053" "CAS:18684-24-7" @@ -33602,6 +33602,7 @@ "SCTID:302544002" "GAID:50" "Orphanet:208974" + "PMID:35668104" "UMLS:C0238525" "MEDGEN:65972" "EFO:0002920" @@ -33609,7 +33610,6 @@ "SCTID:254897006" "MONDO:0005214" "NCIT:C40317" - "PMID:35668104" "PMID:25653158" "ICD10:G23.1" "HMDB:HMDB0000156" @@ -33785,6 +33785,7 @@ "icd11.foundation:564841249" "MEDGEN:151936" "SCTID:92415001" + "SNOMEDCT:433742005" "icd11.foundation:1897308206" "OMIM:304120" "Orphanet:90652" @@ -33812,7 +33813,6 @@ "MAT:0000081" "TAO:0001081" "MO:490" - "SNOMEDCT:433742005" "UMLS:C1334439" "MEDGEN:232709" "ONCOTREE:LUACC" @@ -34063,7 +34063,6 @@ "GARD:12174" "UMLS:C0431697" "ICD10:Q61.4" - "PMID:29875488" "PMID:29875488" "MedDRA:10029155" "MedDRA:10067571" @@ -34073,6 +34072,7 @@ "DOID:6082" "MEDGEN:208758" "UMLS:C0796663" + "PMID:29875488" "DOID:397" "SNOMEDCT:415295002" "NCIt:C62798" @@ -34730,12 +34730,12 @@ "DOID:0050772" "MEDGEN:409988" "ICD10CM:G11.4" + "PMID:33634981" " CLO:0051612" " CLO:0007905" "BTO:0005493" "CLO:0007904" "RRID:CVCL_0593" - "PMID:33634981" "Orphanet:293199" "ICD9:171.9" "ONCOTREE:PLRMS" @@ -35069,14 +35069,14 @@ "UMLS:C4303134" "SCTID:721765009" "ZFA:0005042" - "UMLS:C0521620" - "SNOMEDCT_US:69758005" - "UMLS:C4020897" - "SNOMEDCT_US:95576001" "DOID:8135" "UMLS:C1333748" "MEDGEN:232224" "NCIT:C5734" + "UMLS:C0521620" + "SNOMEDCT_US:69758005" + "UMLS:C4020897" + "SNOMEDCT_US:95576001" "MedDRA:10020718" "MEDGEN:43784" "SNOMEDCT:76197007" @@ -35126,13 +35126,13 @@ "DOID:11372" "SNOMEDCT:33995003" "PMID:29875488" - "UMLS:C4022919" "MESH:C537364" "UMLS:C1855788" "OMIM:242510" "MEDGEN:344577" "Orphanet:2269" "GARD:292" + "UMLS:C4022919" "NIF_Subcellular:sao-593830697" "FMA:62983" "Wikipedia:Myelin" @@ -35209,14 +35209,14 @@ "PMID:9540973" "OMIM:603438" "PMID:29875488" - "OMIM:141350" - "ICD10:Q67.4" "UMLS:C1837564" "GARD:17583" "Orphanet:364577" "OMIM:608670" "MEDGEN:325196" "MESH:C563880" + "OMIM:141350" + "ICD10:Q67.4" "PMID:37794183" "MedDRA:10070179" "ICD10:N04.1" @@ -35537,13 +35537,13 @@ "MESH:D046728" "UMLS:C4023510" "UMLS:C1855340" - "Orphanet:261572" "DOID:1283" "ICD9CM:618.6" "ICD10CM:K46" "MESH:D006547" "SNOMEDCT:47671001" "UMLS:C0205792" + "Orphanet:261572" "OMIMPS:138800" "SCTID:237570007" "NCIT:C131438" @@ -35938,8 +35938,8 @@ "MESH:D016472" "MEDGEN:102314" "UMLS:C0154681" - "ICD9:335.9" "SCTID:85672005" + "ICD9:335.9" "ICD9:335" "DOID:4873" "NCIt:C49236" @@ -36015,12 +36015,12 @@ "UMLS:C1838875" "UMLS:C4011556" "PMID:37794183" + "MONDO:0002515" "NCIT:C3959" "MedDRA:10062000" "UMLS:C0267792" "MEDGEN:82758" "DOID:3118" - "MONDO:0002515" "Reaxys:17116739" "LIPID_MAPS_instance:LMFA08020078" "NCIT:C6341" @@ -36034,12 +36034,12 @@ "Orphanet:643538" "OMIM:616863" "PMID:29875488" - "ICD10:Q10.3" "Orphanet:238666" "ICD10CM:E23.0" "UMLS:C5679849" "MEDGEN:1842176" "GARD:20643" + "ICD10:Q10.3" "NCIt:C117213" "CLO:0001654" "RRID:CVCL_1067" @@ -36205,7 +36205,6 @@ "MedDRA:10036476" "UMLS:C0032897" "Orphanet:226295" - "PMID:33634981" "SCTID:83942000" "MEDGEN:4033" "MedDRA:10000709" @@ -36220,6 +36219,7 @@ "NORD:727" "MESH:D004673" "ICD9:136.9" + "PMID:33634981" "DOID:0110112" "Orphanet:1479" "MEDGEN:477726" @@ -36413,7 +36413,6 @@ "MEDGEN:1823965" "PMID:24816252" "PMID:28240269" - "PMID:29875488" "PMID:35347128" "MEDGEN:1785711" "GARD:18273" @@ -36430,6 +36429,7 @@ "SCTID:763406004" "MEDGEN:1641955" "GARD:10855" + "PMID:29875488" "MeSH:D013534" "SNOMEDCT:445320007" "PERSON: James Malone" @@ -36486,13 +36486,13 @@ "MEDGEN:1648456" "GARD:18446" "OMIM:617591" - "NCIt:C33064" "NCIT:C4373" "MONDO:0006224" "MEDGEN:90961" "SCTID:235685007" "NCIt:C4373" "UMLS:C0341225" + "NCIt:C33064" "DOID:0060326" "HP:0002475" "GARD:3475" @@ -37436,6 +37436,7 @@ "DOID:62" "OMIM:218550" "ICD10:Q87.2" + "PMID:26068415" "Orphanet:482" "GARD:6835" "MESH:D000796" @@ -37448,9 +37449,7 @@ "DOID:7365" "MedDRA:10048640" "MONDO:0018830" - "PMID:26068415" "PMID:35668104" - "PMID:28240269" "CAS:54192-66-4" "LINCS:LSM-6449" "PMID:10680067" @@ -37468,6 +37467,7 @@ "OMIM:609423" "NCIt:C14220" "MedDRA:10068341" + "PMID:28240269" "MedDRA:10063361" "ICD9:759.89" "SCTID:28557005" @@ -37542,8 +37542,8 @@ "MEDGEN:220393" "SCTID:128106003" "DOID:0060573" - "PMID:36006120" "PMID:35697867" + "PMID:36006120" "UMLS:C1866134" "UMLS:C5679991" "MEDGEN:1826160" @@ -37585,8 +37585,8 @@ "ICD9:602.9" "ICD10:N42" "UMLS:C0033575" - "DOID:47" "MESH:D011469" + "DOID:47" "NCIT:C26865" "SCTID:30281009" "MONDO:0003105" @@ -38548,9 +38548,6 @@ "OMIM:300554" "OMIM:310468" "PMID:28240269" - "EFO:0003683" - "ZFA:0001391" - "TAO:0001391" "MedDRA:10036105" "ICD10:G63" "ICD9:356.9" @@ -38569,6 +38566,9 @@ "ICD10:G62.9" "MEDGEN:57502" "SCTID:42345000" + "EFO:0003683" + "ZFA:0001391" + "TAO:0001391" "PMID:28729688" "PMID:31015401" "Wikipedia:Arm" @@ -38594,8 +38594,6 @@ "UMLS:C3714534" "Orphanet:79145" "PMID:35050183" - "PMID:24014485" - "PMID:12478566" "Orphanet:883" "GARD:18711" "MedDRA:10043276" @@ -38603,6 +38601,8 @@ "UMLS:C4708601" "MEDGEN:1646497" "SCTID:768937006" + "PMID:24014485" + "PMID:12478566" "MESH:C538352" "UMLS:C1850052" "GARD:4267" @@ -39747,6 +39747,7 @@ "MESH:D016736" "ICD9:279.49" "MeSH:D016736" + "PMID:29875488" "OMIM:211980" "NCIT:C7377" "ICD9:162.8" @@ -39758,7 +39759,6 @@ "SCTID:363358000" "ICD9:162.5" "ICD9:162.3" - "PMID:29875488" "MedDRA:10047056" "MEDGEN:41447" "MONDO:0004648" @@ -39792,8 +39792,8 @@ "MESH:D001660" "MeSH:D001660" "SCTID:105997008" - "ICD9:576.9" "MedDRA:10004676" + "ICD9:576.9" "MEDGEN:108201" "ICD10:K83.9" "DOID:9741" @@ -40064,12 +40064,12 @@ "SNOMEDCT:234024001" "MeSH:D058686" "FBbt:00016001" - "PMID:35347128" "PMID:26683280" "MeSH:D006524" "DOID:1884" "ICD10:B18" "SNOMEDCT:13041000" + "PMID:35347128" "OMIM:610279" "Orphanet:329329" "GARD:21489" @@ -40423,16 +40423,16 @@ "MEDGEN:140931" "UMLS:C0854242" "PMID:29875488" - "GARD:15589" - "MESH:C567876" - "UMLS:C2752071" - "OMIM:612881" - "MEDGEN:442882" "CLO:0008203" "BTO:0004968" " CLO:0008206" "RRID:CVCL_3940" " CLO:0050179" + "GARD:15589" + "MESH:C567876" + "UMLS:C2752071" + "OMIM:612881" + "MEDGEN:442882" "ICD9:289.6" "Orphanet:90042" "icd11.foundation:962836252" @@ -40518,9 +40518,6 @@ "DOID:0080732" "Orphanet:536532" "PMID:35050183" - "PMID:24531970" - "MeSH:D016182" - "DOID:4318" "OMIM:611875" "OMIM:601144" "MeSH:D053840" @@ -40534,6 +40531,9 @@ "ICD10:I47.2" "UMLS:C1142166" "OMIM:613123" + "PMID:24531970" + "MeSH:D016182" + "DOID:4318" "PMID:37794183" "OMIM:615035" "ICD10:G11.4" @@ -40560,9 +40560,6 @@ "ICD9:753.5" "icd11.foundation:1927556258" "PMID:24816252" - "CLO:0003599" - "RRID:CVCL_1239" - "BTO:0003704" "UMLS:C0014733" "SCTID:44653001" "MedDRA:10015145" @@ -40574,6 +40571,10 @@ "MEDGEN:41855" "HP:0001055" "MONDO:0001266" + "CLO:0003599" + "RRID:CVCL_1239" + "BTO:0003704" + "PMID:29875488" "PMID:35347128" "GARD:18158" "UMLS:C5543289" @@ -40581,7 +40582,6 @@ "OMIM:619274" "CLO:0009210" "RRID:CVCL_0543" - "PMID:29875488" "UMLS:C4282128" "MEDGEN:924232" "OMIM:607411" @@ -41235,13 +41235,13 @@ "ICD9:759.89" "GARD:13" "PMID:37164013" - "MEDGEN:412713" - "UMLS:C2749485" - "OMIM:256700" "UMLS:C0279547" "MEDGEN:83522" "NCIT:C7946" "DOID:6332" + "MEDGEN:412713" + "UMLS:C2749485" + "OMIM:256700" "PMID:35347128" "OMIM:618852" "ZFA:0001082" @@ -41870,11 +41870,11 @@ "NORD:763" "ICD10:C41.1" "NCIT:C7492" + "NCIt:C111322" "DOID:3698" "UMLS:C0861856" "NCIT:C5846" "MEDGEN:167830" - "NCIt:C111322" "UMLS:C0751669" "ICD10:G11.8" "NCIt:C86365" @@ -42146,9 +42146,9 @@ "UMLS:C1866650" "OMIM:184510" "MeSH:C537487" - "SNOMEDCT:104659004" "PubChem:22908099" "CAS:162338-11-6" + "SNOMEDCT:104659004" "PMID:33634981" "http://purl.enanomapper.org/onto/ENM_0000029" "MedDRA:10007269" @@ -42226,8 +42226,8 @@ "MA:0000912" "PMID:31530798" "PMID:26595209" - "ZFA:0001104" "PMID:28240269" + "ZFA:0001104" "ZFA:0001054" "PMID:35347128" "GARD:17314" @@ -42257,10 +42257,9 @@ "AAO:0010610" "GAID:343" "NCIT:C12724" - "PMID:36006120" + "PMID:35888748" "DOID:4378" "MeSH:D021183" - "PMID:35888748" "UMLS:C1535926" "MESH:D065886" "MedGen:C1535926" @@ -42279,6 +42278,7 @@ "MEDGEN:101033" "NCIT:C4793" "ICD9:202.80" + "PMID:36006120" "GARD:10692" "NORD:1529" "UMLS:C0029294" @@ -42897,15 +42897,6 @@ "GARD:16693" "Orphanet:251651" "UMLS:CN201945" - "MEDGEN:1826073" - "GARD:18643" - "UMLS:C5680181" - "Orphanet:88616" - "DOID:0060308" - "OMIMPS:249500" - "RRID:CVCL_0504" - "BTO:0001890" - "CLO:0008825" "UMLS:C0085253" "DOID:14256" "NANDO:1200282" @@ -42924,6 +42915,15 @@ "MeSH:D016706" "ICD9:714.2" "ICD9:759.89" + "MEDGEN:1826073" + "GARD:18643" + "UMLS:C5680181" + "Orphanet:88616" + "DOID:0060308" + "OMIMPS:249500" + "RRID:CVCL_0504" + "BTO:0001890" + "CLO:0008825" "UMLS:C1862382" "icd11.foundation:896652469" "SCTID:724384008" @@ -43224,6 +43224,7 @@ "BTO:0001060" "UMLS:CN229293" "Orphanet:98676" + "http://orcid.org/0000-0003-4183-8865" "BTO:0000732" "RRID:CVCL_0379" "CLO:0007125" @@ -43248,7 +43249,6 @@ "MP:0006278" "ICD9:441.1" "HP:0004942" - "http://orcid.org/0000-0003-4183-8865" "UMLS:C0238183" "SCTID:83664006" "NANDO:2200336" @@ -43799,6 +43799,8 @@ "UMLS:C0205768" "GARD:10632" "ICDO:9384/1" + "Wikipedia:High-content_screening" + "ERO:0001655" "KEGG:C00026" "CAS:64-15-3" "PMID:17190852" @@ -43813,8 +43815,6 @@ "PMID:21196226" "Gmelin:602479" "PMID:19376872" - "Wikipedia:High-content_screening" - "ERO:0001655" "PMID:25456834" "NCIT:C6796" "MEDGEN:234213" @@ -43932,8 +43932,8 @@ "ICD9:229.8" "NCIT:C4884" "ZFA:0001460" - "PMID:34814699" "PMID:35347128" + "PMID:34814699" "PMID:29875488" "UMLS:C4013950" "OMIM:614892" @@ -44327,12 +44327,12 @@ "PMID:22429992" "MeSH:D003401" "PMID:19651674" - "UMLS:C2931722" "PMID:35347128" "UMLS:C0018776" "NCIT:C34662" "icd11.foundation:1513090105" "MEDGEN:9162" + "UMLS:C2931722" "GARD:17218" "Orphanet:254351" "OMIM:613729" @@ -44487,9 +44487,9 @@ "SNOMEDCT:3065002" "MeSH:D048169" "PMID:29875488" + "PMID:36006120" "OMIM:618205" "MedGen:C4748701" - "PMID:36006120" "RRID:CVCL_1059" "BTO:0002975" "CLO:0001566" @@ -44568,10 +44568,10 @@ "Orphanet:79278" "NANDO:1200815" "GARD:4527" - "PMID:24816252" "MeSH:D006193" "NCIt:C86431" "SNOMEDCT:44470000" + "PMID:24816252" "UMLS:C1184923" "ZFA:0000414" "GARD:17399" @@ -44610,8 +44610,8 @@ "ICD10CM:R82.3" "MEDGEN:199627" "NANDO:2201081" - "GARD:17266" "UMLS:C0751285" + "GARD:17266" "Orphanet:268184" "SCTID:240849009" "UMLS:C0024759" @@ -45904,10 +45904,10 @@ "MAT:0000494" "MA:0000118" "EMAPA:18427" + "PMID:29875488" "UMLS:C1261128" "OMIM:176690" "MeSH:C536422" - "PMID:29875488" "GARD:21349" "UMLS:C5681033" "Orphanet:309824" @@ -45949,11 +45949,11 @@ "SCTID:128073008" "SNOMEDCT:311506003" "UMLS:C4025246" - "Orphanet:785" "MeSH:C535962" "UMLS:C0432317" "OMIM:131950" "ICD10:Q81.0" + "Orphanet:785" "PMID:29875488" "SNOMEDCT:54365000" "MeSH:D015010" @@ -46169,8 +46169,8 @@ "OMIM:617917" "OMIM:608673" "ICD10:G60.0" - "PMID:35347128" "PMID:28240269" + "ICD10:Q87.1" "PMID:36168886" "SCTID:719166003" "GARD:10611" @@ -46181,7 +46181,7 @@ "icd11.foundation:1983063881" "MESH:C563869" "PMID:37794183" - "ICD10:Q87.1" + "PMID:35347128" "Orphanet:420702" "MEDGEN:934731" "UMLS:C4310764" @@ -46331,6 +46331,7 @@ "NCIT:C50888" "MESH:D008944" "DOID:11502" + "PMID:35347128" "UMLS:C1168173" "NCIT:C84644" "MEDGEN:218910" @@ -46341,7 +46342,6 @@ "Orphanet:98980" "MedDRA:10059200" "PMID:37253714" - "PMID:35347128" "SCTID:12694001" "SNOMEDCT:12694001" "DOID:3933" @@ -46962,10 +46962,10 @@ "NCIT:C5154" "DOID:2132" "UMLS:C1332607" + "RRID:CVCL_2229" "UMLS:C0349506" "MEDGEN:87601" "MONDO:0005434" - "RRID:CVCL_2229" "UMLS:C4072863" "UMLS:C2673946" "SCTID:448563005" @@ -47030,7 +47030,6 @@ "GARD:9834" "UMLS:C2931002" "NCIt:C5978" - "UMLS:C4021375" "MESH:D008379" "MedDRA:10026822" "MONDO:0020500" @@ -47044,6 +47043,7 @@ "ICD9:078.89" "UMLS:C0024788" "GARD:9444" + "UMLS:C4021375" "PMID:35347128" "PMID:29875488" "DOID:0081109" @@ -47069,11 +47069,11 @@ "PMID:21610164" "RRID:CVCL_0122" "BTO:0001169" + "OMIM:609352" + "ICD10:Q81.0" "ICD10:G71.3" "OMIM:614052" "PMID:24816252" - "OMIM:609352" - "ICD10:Q81.0" "NCIT:C6840" "MEDGEN:277347" "DOID:7868" @@ -47612,8 +47612,8 @@ "UMLS:C1857340" "OMIM:221320" "MeSH:C535993" - "MONDO:0005432" "PMID:29875488" + "MONDO:0005432" "PMID:29875488" "OMIM:276950" "ICD10:Q87.8" @@ -47976,8 +47976,8 @@ "SCTID:362841006" "FMA:86477" "BTO:0002819" - "EFO:0001918" "EMAPA:35270" + "EFO:0001918" "MA:0002905" "UMLS:C1849173" "icd11.foundation:1318287619" @@ -48116,6 +48116,8 @@ "PMID:8662693" "HMDB:HMDB0012458" "PMID:19996111" + "OMIM:608940" + "ICD10:Q77.8" "galen:ThyroidGland" "MESH:D013961" "UMLS:C0040132" @@ -48145,8 +48147,6 @@ "NANDO:1200880" "UMLS:C0029436" "MEDGEN:45247" - "OMIM:608940" - "ICD10:Q77.8" "DOID:0111780" "MEDGEN:333324" "OMIM:311900" @@ -48560,7 +48560,6 @@ "UMLS:C0334549" "OMIM:118210" "ICD10:G60.0" - "PMID:28240269" "UMLS:C1857471" "GARD:1605" "MESH:C535597" @@ -48569,6 +48568,7 @@ "MEDGEN:347462" "OMIM:218670" "icd11.foundation:1684038717" + "PMID:28240269" "PMID:36168886" "Orphanet:443950" "OMIM:617017" @@ -48716,6 +48716,12 @@ "BTO:0000293" "FMA:67325" "EV:0100170" + "NCIT:C6238" + "MONDO:0006201" + "UMLS:C1333473" + "EFO:1000246" + "DOID:2764" + "MEDGEN:232471" "MEDGEN:67439" "DOID:0050477" "NORD:2034" @@ -48730,12 +48736,6 @@ "Orphanet:526" "SCTID:707747007" "MedDRA:10052313" - "NCIT:C6238" - "MONDO:0006201" - "UMLS:C1333473" - "EFO:1000246" - "DOID:2764" - "MEDGEN:232471" "KNApSAcK:C00019688" "KEGG:C03406" "CAS:2387-71-5" @@ -49177,8 +49177,8 @@ "icd11.foundation:329165933" "UMLS:C4736216" "Orphanet:93434" - "PMID:35149390" "RRID:CVCL_E886" + "PMID:35149390" "NCIT:C9105" "UMLS:C2349952" "MEDGEN:379086" @@ -49438,10 +49438,10 @@ "RRID:CVCL_1259" "BTO:0005368" "CLO:0003647" - "MeSH:C537851" - "UMLS:C1859083" "PMID:23852452" "UMLS:C1851897" + "MeSH:C537851" + "UMLS:C1859083" "PMID:34610981" "PMID:31015401" "MeSH:D013298" @@ -49480,9 +49480,9 @@ "Orphanet:79235" "icd11.foundation:846453488" "Orphanet:88637" + "PMID:28240269" "OMIM:613612" "ICD10:E77.8" - "PMID:28240269" "MEDGEN:140768" "NANDO:2200436" "GARD:2788" @@ -49640,14 +49640,6 @@ "GARD:18679" "MEDGEN:1842643" "Orphanet:176" - "UMLS:C0947622" - "DOID:11151" - "MEDGEN:215268" - "SCTID:235919008" - "MESH:D041761" - "MedDRA:10049890" - "MeSH:D041761" - "MONDO:0006698" "Orphanet:2135" "MESH:C536033" "OMIM:248910" @@ -49664,6 +49656,14 @@ "SCTID:698851003" "OMIM:206900" "DOID:0111801" + "UMLS:C0947622" + "DOID:11151" + "MEDGEN:215268" + "SCTID:235919008" + "MESH:D041761" + "MedDRA:10049890" + "MeSH:D041761" + "MONDO:0006698" "Orphanet:228360" "OMIM:256731" "GARD:1223" @@ -49920,16 +49920,16 @@ "icd11.foundation:998231424" "MEDGEN:536543" "ICD9:291.81" + "MEDGEN:863561" + "UMLS:C4015124" + "GARD:16055" + "OMIM:616059" "UMLS:C1865181" "Orphanet:357158" "MESH:C566520" "GARD:17547" "OMIM:602562" "MEDGEN:355927" - "MEDGEN:863561" - "UMLS:C4015124" - "GARD:16055" - "OMIM:616059" "PMID:37164013" "MEDGEN:462969" "OMIM:270500" @@ -50103,13 +50103,13 @@ "ICD10EXP:E72.0+" "ICD10EXP:N16.3*" "PMID:28240269" - "MP:0002975" "SCTID:92027006" "DOID:0060094" "UMLS:C0684516" "NCIT:C4880" "ICD9:213.9" "MEDGEN:146337" + "MP:0002975" "EFO:0003577" "TAO:0000815" "ZFA:0000815" @@ -50446,7 +50446,6 @@ "GARD:21621" "Orphanet:391366" "UMLS:C4751595" - "PMID:23823483" "LIPID_MAPS_instance:LMST05020001" "PMID:13916108" "PMID:8987136" @@ -50458,6 +50457,7 @@ "HMDB:HMDB0002759" "CAS:2479-86-9" "PMID:743633" + "PMID:23823483" "MEDGEN:167236" "DOID:0060291" "Orphanet:2710" @@ -50665,8 +50665,8 @@ "UMLS:C1711262" "NCIT:C43630" "EMAPA:37599" - "PMID:24816252" "ZFA:0001133" + "PMID:24816252" "ICD10:Q23" "GARD:1495" "MEDGEN:1842184" @@ -50756,14 +50756,14 @@ "OMIM:164400" "DOID:1441" "NIFSTD:birnlex_12648" - "CLO:0002182" - "BTO:0000921" - "CLO:0002178" - "RRID:CVCL_1107" "Orphanet:262110" "MEDGEN:444119" "GARD:3722" "UMLS:C2931697" + "CLO:0002182" + "BTO:0000921" + "CLO:0002178" + "RRID:CVCL_1107" "SNOMEDCT_US:236477004" "UMLS:C0543541" "UMLS:C0341706" @@ -50821,7 +50821,6 @@ "Orphanet:401986" "PMID:37794183" "PMID:37794183" - "PMID:35995766" "Orphanet:1876" "ICD10CM:G71.0" "UMLS:C1848586" @@ -50830,10 +50829,9 @@ "OMIM:277320" "GARD:5496" "icd11.foundation:1205053137" + "PMID:35995766" "Orphanet:485382" "OMIM:618723" - "UMLS:C1333977" - "NCIt:C27687" "ICD10CM:J36" "SCTID:15033003" "UMLS:C0031157" @@ -50859,6 +50857,8 @@ "EMAPA:32837" "BAMS:SA" "BM:Tel-Spt" + "UMLS:C1333977" + "NCIt:C27687" "GARD:117" "UMLS:C0265227" "ICD9:759.89" @@ -50924,30 +50924,30 @@ "NANDO:1200963" "GARD:1496" "SNOMEDCT:258798001" - "PMID:29875488" - "PMID:24816252" "MEDGEN:760465" "NCIT:C100093" "UMLS:C1696109" - "PMID:31015401" + "PMID:29875488" "ICD9:191.2" "UMLS:C0153636" "MEDGEN:509347" "DOID:2135" "SCTID:363468009" "ICD10CM:C71.2" - "PMID:26417704" + "PMID:24816252" "NCIT:C6187" "MEDGEN:277591" "DOID:6118" "UMLS:C1335751" "UMLS:C3279222" + "PMID:31015401" "DOID:0081431" "MEDGEN:1613834" "Orphanet:572773" "OMIM:617604" "GARD:18655" "UMLS:C4539873" + "PMID:26417704" "MeSH:D016158" "MEDGEN:1748867" "GARD:18570" @@ -51001,12 +51001,12 @@ "PO:0020019" "MAT:0000214" "PMID:37794183" + "ICD10:Q87.1" "MEDGEN:232062" "NANDO:2100004" "DOID:5823" "NCIT:C5165" "UMLS:C1332979" - "ICD10:Q87.1" "MONDO:0005614" "NCIT:C5721" "UMLS:C1335299" @@ -51097,9 +51097,9 @@ "UMLS:C4280656" "SNOMEDCT_US:72239002" "PMID:29875488" + "PMID:29875488" "ICD10:E85.0" "MedDRA:10070594" - "PMID:29875488" "PMID:38565889" "OMIM:190360" "MESH:C566032" @@ -51178,6 +51178,7 @@ "MEDGEN:235462" "MONDO:0006353" "UMLS:C1335343" + "NCIt:C116641" "icd11.foundation:476391827" "MESH:D058186" "UMLS:C2609414" @@ -51186,7 +51187,6 @@ "ICD10CM:N17" "DOID:3021" "PMID:37794183" - "NCIt:C116641" "SCTID:399617002" "UMLS:C0869523" "MEDGEN:163689" @@ -51219,6 +51219,8 @@ "OMIM:616606" "Orphanet:1440" "MESH:C535487" + "KEGG COMPOUND:C02341" + "HMDB:0000958" "HP:0007964" "Orphanet:98670" "SCTID:247182006" @@ -51226,8 +51228,6 @@ "GARD:5506" "UMLS:C0344290" "MEDGEN:87480" - "KEGG COMPOUND:C02341" - "HMDB:0000958" "PMID:29875488" "FMA:49179" "galen:LowerGastrointestinalTract" @@ -51462,10 +51462,22 @@ "MEDGEN:333014" "DOID:0050600" "OMIM:600501" + "SNOMEDCT:445559002" "MEDGEN:79186" "UMLS:C0280801" "NCIT:C38938" - "SNOMEDCT:445559002" + "icd11.foundation:1776831202" + "Orphanet:199348" + "OMIM:607483" + "SCTID:723557004" + "MEDGEN:375289" + "SCTID:703522009" + "Orphanet:65284" + "GARD:10237" + "UMLS:C1843807" + "ICD9:333.99" + "DOID:0050659" + "MESH:C537658" "UMLS:C0008441" "ICDO:9230/0" "GARD:0006047" @@ -51486,18 +51498,6 @@ "ICD9:154.3" "UMLS:C0153446" "SCTID:363352004" - "icd11.foundation:1776831202" - "Orphanet:199348" - "OMIM:607483" - "SCTID:723557004" - "MEDGEN:375289" - "SCTID:703522009" - "Orphanet:65284" - "GARD:10237" - "UMLS:C1843807" - "ICD9:333.99" - "DOID:0050659" - "MESH:C537658" "PMID:27984732" "Orphanet:466729" "PMID:35347128" @@ -52389,12 +52389,12 @@ "DOID:0110298" "OMIM:613158" "UMLS:C3150418" + "PMID:35347128" "MONDO:0005755" "MESH:D004859" "MeSH:D004859" "NCIT:C84694" "DOID:5002" - "PMID:35347128" "Orphanet:502430" "MEDGEN:1799530" "GARD:22047" @@ -52513,6 +52513,14 @@ "ONCOTREE:CECC" "EFO:1000163" "MEDGEN:234113" + "PMID:36168886" + "NCIT:C112181" + "MeSH:D014005" + "DOID:12404" + "MedDRA:10043864" + "MONDO:0005982" + "UMLS:C0040247" + "MEDGEN:52757" "NCIT:C53971" "HP:0010736" "MESH:D005358" @@ -52524,13 +52532,6 @@ "ICD10CM:Q78.1" "SCTID:89859004" "MEDGEN:42020" - "NCIT:C112181" - "MeSH:D014005" - "DOID:12404" - "MedDRA:10043864" - "MONDO:0005982" - "UMLS:C0040247" - "MEDGEN:52757" "Orphanet:1486" "UMLS:C1854664" "SCTID:715418007" @@ -52544,7 +52545,6 @@ "MEDGEN:154721" "DOID:484" "UMLS:C0600502" - "PMID:36168886" "EV:0100037" "UMLS:C0028429" "MIAA:0000139" @@ -52698,11 +52698,11 @@ "MAT:0000358" "SNOMEDCT:75505008" "NCIt:C79681" - "PMID:23823483" - "PMID:37596262" "ICD10:Q87.8" "OMIM:155145" "UMLS:C1835087" + "PMID:23823483" + "PMID:37596262" "Wikipedia:Nasopharynx" "NCIT:C12423" "EMAPA:17670" @@ -52820,9 +52820,9 @@ "SNOMEDCT:372718005" "KEGG:D08070" "PMID:29844224" + "PMID:37794183" "PMID:29403010" "http://www.ebi.ac.uk/efo/EFO_0005128" - "PMID:37794183" "UMLS:C4022631" "MEDGEN:1716712" "UMLS:C5394362" @@ -53219,12 +53219,12 @@ "DOID:10655" "UMLS:C0940607" "MEDGEN:182652" + "ICD10:E66.8" "MEDGEN:1672817" "ICD10CM:Q78.0" "UMLS:C5190607" "Orphanet:314029" "GARD:21366" - "ICD10:E66.8" "NCIT:C5777" "EFO:1000248" "MONDO:0006203" @@ -53294,6 +53294,8 @@ "ICD10:G71.3" "OMIM:252011" "PMID:35995766" + "ICD10:E77.8" + "OMIM:609056" "NANDO:1201073" "NCIT:C99056" "icd11.foundation:1693546163" @@ -53307,8 +53309,6 @@ "SCTID:253159001" "ICD9:742.4" "PMID:37794183" - "ICD10:E77.8" - "OMIM:609056" "Chemspider:4943512" "LIPID_MAPS_instance:LMSP01080062" "CAS:121025-45-4" @@ -53536,6 +53536,7 @@ "UMLS:C1843792" "OMIM:607485" "DOID:0060672" + "PMID:29875488" "OMIM:601547" "OMIM:610019" "OMIM:609741" @@ -53555,7 +53556,6 @@ "OMIM:609376" "MedDRA:10007759" "MedDRA:10057735" - "PMID:29875488" "NANDO:1200944" "GARD:5442" "DOID:0110828" @@ -53630,6 +53630,7 @@ "MESH:C564178" "HP:0006837" "ICD10:I89.0" + "PMID:35995766" "EFO:0000553" "ONCOTREE:ILC" "MONDO:0005051" @@ -53638,7 +53639,6 @@ "NCIT:C7950" "UMLS:C0279565" "MEDGEN:75994" - "PMID:35995766" "PMID:25383968" "PMID:33204752" "Wikipedia:stenosis" @@ -54010,6 +54010,11 @@ "MEDGEN:373154" "UMLS:C1836706" "DOID:0081101" + "FBbt:00005544" + "PMID:37794183" + "RRID:CVCL_0014" + "CLO:0008873" + "BTO:0000726" "MEDGEN:1684618" "MONDO:0005500" "OMIM:617082" @@ -54018,11 +54023,6 @@ "OMIMPS:212065" "UMLS:C4700504" "OMIM:616457" - "FBbt:00005544" - "PMID:37794183" - "RRID:CVCL_0014" - "CLO:0008873" - "BTO:0000726" "BTO:0000131" "UMLS:C0403554" "GARD:15229" @@ -55169,8 +55169,8 @@ "MeSH:D000138" "UMLS:C0001122" "SNOMEDCT:51387008" - "NCIt:C83504" "HP:0001941" + "NCIt:C83504" "SCTID:51387008" "MEDGEN:1296" "GARD:18404" @@ -55498,14 +55498,6 @@ "NCIT:C8053" "Orphanet:35808" "GARD:18816" - "PMID:30368896" - "GARD:12720" - "icd11.foundation:1251733531" - "UMLS:C1844560" - "OMIM:305550" - "Orphanet:97232" - "MESH:C564425" - "MEDGEN:337026" "SNOMEDCT:109333005" "NCIt:C63707" "MEDGEN:10500" @@ -55516,6 +55508,14 @@ "MedDRA:10067352" "MONDO:0043735" "NCIT:C63707" + "PMID:30368896" + "GARD:12720" + "icd11.foundation:1251733531" + "UMLS:C1844560" + "OMIM:305550" + "Orphanet:97232" + "MESH:C564425" + "MEDGEN:337026" "PMID:29875488" "PMID:29875488" "PMID:30992453" @@ -55692,7 +55692,6 @@ "SNOMEDCT_US:81208006" "PMID:37794183" "PMID:37794183" - "PMID:35995766" "UMLS:C1848578" "SCTID:80887004" "Orphanet:79284" @@ -55702,6 +55701,7 @@ "OMIM:277380" "DOID:0050717" "NANDO:2201110" + "PMID:35995766" "PMID:24816252" "PMID:35347128" "RRID:CVCL_3656" @@ -55743,8 +55743,8 @@ "EMAPA:18222" "EFO:0002559" "EHDAA:5623" - "MA:0001136" "SCTID:279281007" + "MA:0001136" "FMA:6964" "DOID:3184" "UMLS:C0346295" @@ -55956,6 +55956,7 @@ "MEDGEN:338875" "MESH:C565010" "CALOHA:TS-0732" + "FMA:18245" "EMAPA:35660" "Wikipedia:Fallopian_tube" "EV:0100112" @@ -55967,7 +55968,6 @@ "SCTID:181463001" "EHDAA2:0000504" "UMLS:C0015560" - "FMA:18245" "MEDGEN:1750188" "OMIM:619044" "DOID:0112109" @@ -56117,6 +56117,8 @@ "NCIT:C12929" "UMLS:C0501403" "EHDAA:3780" + "KEGG COMPOUND:C10438" + "HMDB:0000567" "OMIM:231000" "UMLS:C0017205" "OMIM:230800" @@ -56127,8 +56129,6 @@ "MedDRA:10018048" "OMIM:610539" "ICD10:E75.2" - "KEGG COMPOUND:C10438" - "HMDB:0000567" "icd11.foundation:1628320490" "Orphanet:3471" "ICD9:759.89" @@ -56814,10 +56814,10 @@ "icd11.foundation:1653996588" "MESH:C563785" "PMID:37794183" - "PMID:26068415" "OMIM:620319" "UMLS:C5830418" "MEDGEN:1841054" + "PMID:26068415" "icd11.foundation:149859272" "OMIM:160010" "UMLS:C1834567" @@ -57780,6 +57780,10 @@ "Orphanet:98964" "OMIM:122200" "GARD:9678" + "DOID:5351" + "MEDGEN:275291" + "UMLS:C1518727" + "NCIT:C39986" "ICD10:E40" "MONDO:0006826" "DOID:13579" @@ -57793,10 +57797,6 @@ "SNOMEDCT:58262005" "MeSH:D007732" "MEDGEN:7233" - "DOID:5351" - "MEDGEN:275291" - "UMLS:C1518727" - "NCIT:C39986" "PMID:28924203" "MEDGEN:900126" "GARD:16640" @@ -57935,10 +57935,10 @@ "Orphanet:224" "PMID:37794183" "MedDRA:10052362" + "PMID:28240269" "OMIM:618878" "MEDGEN:1719764" "UMLS:C5394371" - "PMID:28240269" "UMLS:C2749477" "OMIM:257850" "MESH:C567605" @@ -58030,14 +58030,6 @@ "UMLS:C0233514" "HP:0000708" "SNOMEDCT_US:25786006" - "OMIM:619858" - "MEDGEN:1803642" - "UMLS:C5676977" - "UMLS:C3280073" - "OMIM:614188" - "GARD:17309" - "MEDGEN:481703" - "Orphanet:284149" "UMLS:C0023283" "ICD9:085.2" "MedDRA:10011668" @@ -58056,6 +58048,14 @@ "MedDRA:10011670" "icd11.foundation:124737785" "ICD10CM:B55.1" + "OMIM:619858" + "MEDGEN:1803642" + "UMLS:C5676977" + "UMLS:C3280073" + "OMIM:614188" + "GARD:17309" + "MEDGEN:481703" + "Orphanet:284149" "UMLS:C1858420" "MEDGEN:346902" "MESH:C565782" @@ -58666,13 +58666,6 @@ "ICDO:9371/3" "EFO:1000174" "PMID:29875488" - "DOID:13582" - "MedDRA:10036445" - "MESH:D011191" - "MeSH:D011191" - "MEDGEN:10874" - "MONDO:0006919" - "UMLS:C0032827" "DOID:5142" "MEDGEN:274417" "NCIT:C40326" @@ -58683,6 +58676,13 @@ "SCTID:268232000" "MEDGEN:609099" "UMLS:C0431692" + "DOID:13582" + "MedDRA:10036445" + "MESH:D011191" + "MeSH:D011191" + "MEDGEN:10874" + "MONDO:0006919" + "UMLS:C0032827" "NCIt:C4016" "CSP:2019-1041" "MEDGEN:79002" @@ -58980,6 +58980,7 @@ "UMLS:C4023795" "PMID:35347128" "PMID:37794183" + "PMID:29875488" "BTO:0001154" "CLO:0008734" "RRID:CVCL_0511" @@ -58995,7 +58996,6 @@ "MESH:D003715" "Orphanet:99828" "UMLS:C0011311" - "PMID:29875488" "SNOMEDCT:405582003" "MedDRA:10050404" "UMLS:C4072825" @@ -60039,7 +60039,6 @@ "MEDGEN:1682403" "UMLS:C5193134" "DOID:0081443" - "PMID:29875488" "CAS:10124-36-4" "Gmelin:8295" "NCIt:C45895" @@ -60052,6 +60051,7 @@ "OMIM:613672" "UMLS:C3150925" "GARD:10992" + "PMID:29875488" "Patent:US3053832" "DrugBank:DB00959" "Beilstein:2340300" @@ -60596,11 +60596,11 @@ "OMIM:101850" "UMLS:C0545044" "HMDB:0037285" + "PMID:35347128" "GARD:18537" "OMIM:619125" "UMLS:C5436856" "MEDGEN:1725501" - "PMID:35347128" "HMDB:0035701" "RRID:CVCL_D755" "icd11.foundation:1755751917" @@ -60880,6 +60880,15 @@ "Orphanet:664438" "UMLS:C5231479" "OMIM:618729" + "DOID:11716" + "NCIt:C122685" + "MESH:D011236" + "MEDGEN:83928" + "MONDO:0006920" + "MedDRA:10065542" + "UMLS:C0362046" + "MeSH:D011236" + "NCIT:C122685" "UMLS:C1567426" "Orphanet:97363" "MEDGEN:292613" @@ -60902,15 +60911,6 @@ "MedDRA:10029885" "ICD10:E66" "ICD9:278.0" - "DOID:11716" - "NCIt:C122685" - "MESH:D011236" - "MEDGEN:83928" - "MONDO:0006920" - "MedDRA:10065542" - "UMLS:C0362046" - "MeSH:D011236" - "NCIT:C122685" "OMIM:143095" "SCTID:702400006" "MESH:C537283" @@ -61355,13 +61355,13 @@ "RRID:CVCL_1629" "BTO:0003054" "NCIt:C117208" - "OMIM:610042" - "ICD10:Q04.8" "GARD:16157" "OMIM:616760" "MEDGEN:902275" "UMLS:C4225214" "DOID:0111574" + "OMIM:610042" + "ICD10:Q04.8" "SCTID:93151007" "ICD9:202.47" "UMLS:C1336064" @@ -61441,12 +61441,12 @@ "UMLS:C4707448" "MEDGEN:1642621" "ICD10:E72.3" - "Orphanet:320346" "MEDGEN:581442" "icd11.foundation:1764644031" "Orphanet:137867" "UMLS:C0393551" "GARD:19887" + "Orphanet:320346" "SNOMEDCT_US:205082007" "MEDDRA:10066242" "UMLS:C0240912" @@ -61592,10 +61592,10 @@ "UMLS:C3241919" "GARD:22049" "PMID:35668104" - "RRID:CVCL_C466" - "BTO:0006092" "NCIt:C52814" "MeSH:D010543" + "RRID:CVCL_C466" + "BTO:0006092" "PMID:33634981" "MESH:D009234" "MeSH:D009234" @@ -61847,15 +61847,15 @@ "Orphanet:263355" "PMID:29875488" "PMID:35347128" - "UMLS:C1264040" - "OMIM:613554" - "MeSH:D056728" - "ICD10:D68.0" "DOID:0081003" "OMIM:616858" "UMLS:C4225179" "GARD:16470" "MEDGEN:908796" + "UMLS:C1264040" + "OMIM:613554" + "MeSH:D056728" + "ICD10:D68.0" "MEDGEN:318935" "UMLS:C1833683" "OMIMPS:167030" @@ -61928,6 +61928,9 @@ "MEDGEN:462815" "UMLS:C3151465" "OMIM:614024" + "PO:0020031" + "MAT:0000415" + "BTO:0001152" "SNOMEDCT:85005007" "DOID:9505" "NCIt:C34445" @@ -61950,9 +61953,6 @@ "MedDRA:10007177" "ICD9:304.3" "MedDRA:10007179" - "PO:0020031" - "MAT:0000415" - "BTO:0001152" "MO:859" "MEDGEN:384006" "GARD:16639" @@ -62018,11 +62018,11 @@ "UMLS:C1832592" "OMIM:601220" "PMID:35347128" + "PMID:35347128" "ICD10:E70.3" "OMIM:614075" "OMIM:614074" "OMIM:614072" - "PMID:35347128" "KEGG:C05145" "Beilstein:1720958" "PMID:18299183" @@ -62261,6 +62261,16 @@ "OMIM:241760" "DOID:5532" "NCIT:C40092" + "EFO:1000657" + "DOID:1993" + "UMLS:C0949022" + "SCTID:363351006" + "MedDRA:10038038" + "ICD9:154.1" + "MONDO:0006519" + "ICD10:C20" + "NCIT:C7418" + "MEDGEN:181763" "ICD9:495.8" "MESH:D000542" "MEDGEN:1446" @@ -62276,16 +62286,6 @@ "GARD:12" "MedDRA:10001890" "NCIT:C34369" - "EFO:1000657" - "DOID:1993" - "UMLS:C0949022" - "SCTID:363351006" - "MedDRA:10038038" - "ICD9:154.1" - "MONDO:0006519" - "ICD10:C20" - "NCIT:C7418" - "MEDGEN:181763" "MEDGEN:233658" "DOID:7639" "UMLS:C1334575" @@ -62594,6 +62594,9 @@ "ICD10CM:D53.0" "Orphanet:98415" "MEDGEN:1842832" + "ICD10:Q93.5" + "MeSH:C538316" + "UMLS:C2931816" "PMID:29875488" "DOID:3187" "NCIT:C9377" @@ -62603,9 +62606,6 @@ "RRID:CVCL_3712" "CLO:0003772" "Orphanet:95161" - "ICD10:Q93.5" - "MeSH:C538316" - "UMLS:C2931816" "ICD10:K10" "NCIT:C66758" "UMLS:C0206738" @@ -63006,13 +63006,13 @@ "DOID:0111538" "ZFA:0000972" "PMID:29158487" + "ICD10:Q82.4" + "OMIM:112300" "UMLS:C1306229" "OMIM:615402" "OMIM:612715" "OMIM:127500" "ICD10:L81.8" - "ICD10:Q82.4" - "OMIM:112300" "MetaCyc:Vitamin-A" "SNOMEDCT:82622003" "Wikipedia:Vitamin_A" @@ -63821,11 +63821,11 @@ "SCTID:236746000" "MEDGEN:588642" "UMLS:C0403764" + "OMIM:608779" + "ICD10:E77.8" "MeSH:D000728" "SNOMEDCT:84629008" "NCIt:C2298" - "OMIM:608779" - "ICD10:E77.8" "PMID:37794183" "NCIt:C34753" "MedDRA:10049032" @@ -64266,12 +64266,12 @@ "DrugBank:DB04746" "PDBeChem:ODD" "PDBeChem:ODD \"PDBeChem\"" + "PMID:29875488" "GARD:17993" "MEDGEN:1674537" "UMLS:C5193101" "OMIM:618440" "Orphanet:557003" - "PMID:29875488" "SNOMEDCT:72461005" "NCIt:C86380" "UMLS:C3554241" @@ -64332,7 +64332,6 @@ "MESH:D002205" "SCTID:398640008" "MedDRA:10065917" - "PMID:29875488" "EV:0200009" "ncithesaurus:Beta_Cell" "Wikipedia:Pancreatic_b_cell" @@ -64343,6 +64342,7 @@ "BTO:0000783" "FMA:70586" "NCIt:C32199" + "PMID:29875488" "UMLS:C0031117" "SNOMEDCT_US:42658009" "SNOMEDCT_US:302226006" @@ -64390,13 +64390,13 @@ "MedDRA:10035618" "UMLS:C0032231" "PMID:31189108" - "UMLS:C0268251" - "OMIM:231000" - "ICD10:E75.2" "BFO:0000020" "SNOMEDCT:255561001" "NCIt:C25232" "MAT:0000490" + "UMLS:C0268251" + "OMIM:231000" + "ICD10:E75.2" "PMID:29875488" "PMID:29875488" "KNApSAcK:C00000853" @@ -65240,6 +65240,7 @@ "GARD:20849" "Orphanet:262638" "MESH:C537941" + "ICD10:Q18.8" "MA:0000717" "MeSH:D004727" "MeSH:D004730" @@ -65251,7 +65252,6 @@ "GARD:12409" "MEDGEN:370234" "MESH:C567040" - "ICD10:Q18.8" "MeSH:D048168" "Gmelin:386661" "MetaCyc:CPD-7830" @@ -65535,7 +65535,6 @@ "NCIT:C131629" "UMLS:C0238120" "PMID:29875488" - "RRID:CVCL_A758" "GARD:0005528" "DOID:14515" "NCIT:C3718" @@ -65547,6 +65546,7 @@ "GARD:0001732" "UMLS:C0206115" "MESH:D017624" + "RRID:CVCL_A758" "OMIM:126700" "ICD10:H35.5" "OMIM:126600" @@ -65664,6 +65664,16 @@ "UMLS:C1336749" "MEDGEN:234429" "EFO:1000587" + "UMLS:C0346017" + "NCIT:C4471" + "SCTID:254711000" + "DOID:4871" + "MEDGEN:91071" + "PMID:37794183" + "OMIM:608812" + "UMLS:C1837315" + "MEDGEN:324734" + "FBbt:00005610" "ICD10:S75" "ICD10:T13" "ICD10:S80" @@ -65676,16 +65686,6 @@ "MedDRA:10054965" "ICD10:S84" "ICD10:S79" - "UMLS:C0346017" - "NCIT:C4471" - "SCTID:254711000" - "DOID:4871" - "MEDGEN:91071" - "PMID:37794183" - "OMIM:608812" - "UMLS:C1837315" - "MEDGEN:324734" - "FBbt:00005610" "UMLS:C0524662" "MESH:D009293" "MONDO:0005530" @@ -65751,6 +65751,7 @@ "KEGG COMPOUND:C13377" "ChemIDplus:7487-94-7" "KEGG COMPOUND:7487-94-7" + "PMID:29875488" "PDBeChem:1N1" "PMID:19640584" "Reaxys:9966762" @@ -65789,7 +65790,6 @@ "GARD:1150" "OMIM:212500" "UMLS:C0220721" - "PMID:29875488" "ICD10:Q87.0" "OMIM:610951" "DOID:0110722" @@ -65949,11 +65949,11 @@ "ONCOTREE:ARMM" "NCIT:C4639" "SNOMEDCT:32095005" + "PMID:35347128" "BTO:0000454" "CLO:0001356" "RRID:CVCL_0601" " CLO:0050525" - "PMID:35347128" "Reaxys:1725444" "HMDB:HMDB0028907" "MEDGEN:199655" @@ -65982,9 +65982,9 @@ "Orphanet:52056" "MEDGEN:324890" "SCTID:719843001" - "Orphanet:98718" "PMID:37794183" "UMLS:C1859391" + "Orphanet:98718" "CSP:2049-9000" "DOID:0060054" "NCIT:C27033" @@ -66379,10 +66379,10 @@ "HMDB:HMDB0011172" "PMID:22770225" "PMID:37794183" - "ICD10:E77.8" - "OMIM:612015" "OMIM:103300" "ICD10:Q87.2" + "ICD10:E77.8" + "OMIM:612015" "UMLS:C1860130" "PMID:29875488" "UMLS:C5680608" @@ -66418,6 +66418,7 @@ "NCIt:C125664" "MONDO:0000675" "PMID:24816252" + "PMID:25695952" "OMIM:607323" "Orphanet:959" "Orphanet:93293" @@ -66428,7 +66429,6 @@ "DOID:0060747" "MEDGEN:301647" "SCTID:720415006" - "PMID:25695952" "SCTID:450956008" "MEDGEN:396324" "GARD:22348" @@ -66515,8 +66515,8 @@ "MAT:0000127" "MIAA:0000127" "NCIT:C12405" - "BTO:0001424" "EV:0100113" + "BTO:0001424" "UMLS:C0042149" "MA:0000389" "VHOG:0001137" @@ -66968,13 +66968,13 @@ "NCIT:C12408" "UMLS:C0042993" "ICD10:N46" - "PMID:32641083" "Orphanet:79376" "UMLS:C0162835" "MedDRA:10040868" "HP:0001010" "MEDGEN:102477" "MESH:D017496" + "PMID:32641083" "PMID:30104601" "PMID:35347128" "MEDGEN:64623" @@ -67020,13 +67020,6 @@ "UMLS:C0153653" "Wikipedia:Dissociation_(psychology)" "PMID:30552317" - "UMLS:C1854978" - "MESH:C565370" - "MEDGEN:381529" - "GARD:18505" - "NCIT:C176908" - "OMIM:252270" - "PMID:29875488" "ICD10CM:M75.0" "ICD9:726.0" "MedDRA:10017391" @@ -67038,6 +67031,13 @@ "MESH:D002062" "UMLS:C0311223" "MONDO:0006763" + "UMLS:C1854978" + "MESH:C565370" + "MEDGEN:381529" + "GARD:18505" + "NCIT:C176908" + "OMIM:252270" + "PMID:29875488" "PMID:29875488" "PMID:8429917" "CiteXplore:8429917" @@ -67330,12 +67330,12 @@ "SNOMEDCT:88183001" "PMID:27918536" "NCIt:C12812" + "PMID:28369058" "SCTID:190953007" "ICD9:277.89" "MEDGEN:450540" "UMLS:C0268417" "OMIM:614044" - "PMID:28369058" "icd11.foundation:1867328407" "MEDGEN:322007" "UMLS:C1832669" @@ -67757,14 +67757,14 @@ "ICD10:Q74.8" "UMLS:C1856789" "SNOMEDCT:420470004" + "BTO:0002183" + "RRID:CVCL_7109" "Orphanet:99960" "UMLS:C4551899" "GARD:10028" "DOID:0070231" "MEDGEN:1637492" "OMIM:243300" - "BTO:0002183" - "RRID:CVCL_7109" "SNOMEDCT:76567009" "NCIt:C35512" "MedDRA:10061225" @@ -67893,6 +67893,8 @@ "SCTID:715752006" "UMLS:C0752124" "icd11.foundation:1056119281" + "MeSH:D018177" + "DOID:993" "MONDO:0005346" "MeSH:D042882" "SCTID:235919008" @@ -67903,8 +67905,6 @@ "MESH:D042882" "RRID:CVCL_4103" "CLO:0001701" - "MeSH:D018177" - "DOID:993" "UMLS:C1836022" "Orphanet:268835" "OMIM:609537" @@ -68211,9 +68211,6 @@ "KEGG:D05045" "PMID:31630007" "PMID:33568043" - "ICD10:Q87.8" - "MeSH:C538112" - "UMLS:C2931736" "EV:0100042" "EHDAA:2205" "AAO:0000275" @@ -68224,6 +68221,9 @@ "EMAPA:16728" "BTO:0000763" "MA:0000415" + "ICD10:Q87.8" + "MeSH:C538112" + "UMLS:C2931736" "SCTID:92093000" "MEDGEN:91050" "UMLS:C0345670" @@ -68697,6 +68697,9 @@ "MedDRA:10001926" "ICD10:Q73.0" "PMID:37794183" + "OMIM:614850" + "UMLS:C3553869" + "MEDGEN:766783" "ICDO:9702/3" "GARD:21252" "MONDO:0017603" @@ -68706,9 +68709,6 @@ "UMLS:C1332078" "ICD10:C84.7" "MEDGEN:272266" - "OMIM:614850" - "UMLS:C3553869" - "MEDGEN:766783" "ICD9:117.9" "DOID:0050133" "MEDGEN:755998" @@ -68992,6 +68992,7 @@ "NCIT:C3644" "ICD10CM:D09.0" "OMIM:618333" + "SCTID:717731002" "NCIT:C6381" "DOID:4301" "icd11.foundation:247568702" @@ -68999,7 +69000,6 @@ "GARD:22006" "Orphanet:494451" "UMLS:C1336977" - "SCTID:717731002" "PMID:35347128" "PMID:29875488" "PMID:35347128" @@ -69042,10 +69042,6 @@ "PMID:37794183" "PMID:29747637" "PMID:29875488" - "UMLS:C1112474" - "MEDGEN:207270" - "NCIT:C6762" - "DOID:7134" "MESH:C562907" "GARD:10363" "UMLS:C0406443" @@ -69056,6 +69052,10 @@ "DOID:0080088" "OMIM:161050" "Orphanet:79153" + "UMLS:C1112474" + "MEDGEN:207270" + "NCIT:C6762" + "DOID:7134" "PMID:37794183" "PMID:25762552" "PMID:37794183" @@ -69086,18 +69086,18 @@ "MEDGEN:41339" "ICD9:237.0" "BTO:0001026" + "FMA:81100" + "NCIt:C12521" + "CALOHA:TS-0290" + "BTO:0000424" + "SNOMEDCT:41898006" + "PMID:28240269" "OMIM:300635" "MedDRA:10068348" "UMLS:C0549463" "ICD10:D82.3" "MeSH:D008232" "OMIM:308240" - "SNOMEDCT:41898006" - "FMA:81100" - "NCIt:C12521" - "CALOHA:TS-0290" - "BTO:0000424" - "PMID:28240269" "SCTID:93132001" "GARD:2026" "DOID:0090032" @@ -69706,16 +69706,6 @@ "PMID:28240269" "PMID:28240269" "OMIM:213010" - "ICD9:571.6" - "NCIt:C51225" - "SNOMEDCT:1761006" - "MESH:C538058" - "NANDO:1200460" - "OMIM:202550" - "NCIT:C101074" - "NANDO:2200948" - "UMLS:C0345240" - "MEDGEN:83378" "icd11.foundation:597341977" "MEDGEN:39087" "MESH:D020269" @@ -69727,6 +69717,16 @@ "SCTID:7916009" "NCIT:C26926" "ICD9:357.5" + "ICD9:571.6" + "NCIt:C51225" + "SNOMEDCT:1761006" + "MESH:C538058" + "NANDO:1200460" + "OMIM:202550" + "NCIT:C101074" + "NANDO:2200948" + "UMLS:C0345240" + "MEDGEN:83378" "PMID:35050183" "KEGG:D00445" "Wikipedia:Stavudine" @@ -70081,16 +70081,6 @@ "icd11.foundation:1548743622" "MONDO:0005832" "MeSH:D008205" - "NCIt:C37971" - "SNOMEDCT:302870006" - "MedDRA:10020870" - "UMLS:C0813230" - "HP:0002155" - "SCTID:302870006" - "MeSH:D015228" - "MONDO:0005347" - "MESH:D015228" - "MEDGEN:167238" "SCTID:181322008" "EFO:0004231" "FMA:22689" @@ -70102,6 +70092,16 @@ "galen:BrachialArtery" "AAO:0010504" "NCIT:C12681" + "NCIt:C37971" + "SNOMEDCT:302870006" + "MedDRA:10020870" + "UMLS:C0813230" + "HP:0002155" + "SCTID:302870006" + "MeSH:D015228" + "MONDO:0005347" + "MESH:D015228" + "MEDGEN:167238" "OMIM:311510" "UMLS:C0796195" "MEDGEN:208674" @@ -70238,6 +70238,7 @@ "SNOMEDCT:76479006" "OMIM:278760" "ICD10:Q82.1" + "PMID:37164013" "DOID:11339" "ICD9:136.3" "ICD10CM:B59" @@ -70261,7 +70262,6 @@ "UMLS:C5848385" "Orphanet:35125" "MEDGEN:1847175" - "PMID:37164013" "Orphanet:98910" "ICD9:402.9" "MEDGEN:508889" @@ -70395,7 +70395,6 @@ "MeSH:C536861" "ICD10:G11.4" "PMID:28240269" - "https://www.breastcancer.org/symptoms/diagnosis/hormone_status" "NORD:1258" "NCIT:C98949" "DOID:4626" @@ -70407,6 +70406,7 @@ "GARD:6681" "icd11.foundation:1963574608" "SCTID:30023002" + "https://www.breastcancer.org/symptoms/diagnosis/hormone_status" "PMID:37794183" "MEDGEN:1842372" "GARD:20683" @@ -70441,6 +70441,12 @@ "OMIM:619827" "UMLS:C5676961" "MEDGEN:1808159" + "ZFA:0000254" + "Orphanet:98041" + "DOID:0050132" + "SCTID:95544006" + "UMLS:C0521604" + "MEDGEN:636702" "ICD9:382.9" "MeSH:D010033" "HP:0000388" @@ -70455,12 +70461,6 @@ "UMLS:C0029882" "MONDO:0005441" "MedDRA:10033078" - "ZFA:0000254" - "Orphanet:98041" - "DOID:0050132" - "SCTID:95544006" - "UMLS:C0521604" - "MEDGEN:636702" "DOID:8352" "UMLS:C1334560" "MEDGEN:235290" @@ -70721,6 +70721,12 @@ "MedGen:C1864399" "DI:00917" "MeSH:D018901" + "MedDRA:10071094" + "OMIM:120100" + "ICD10:L50.2" + "MedDRA:10064570" + "OMIM:616115" + "UMLS:C0343068" "MEDGEN:501111" "Orphanet:2297" "OMIM:610549" @@ -70729,12 +70735,6 @@ "icd11.foundation:343459534" "MESH:C562710" "UMLS:C0342278" - "MedDRA:10071094" - "OMIM:120100" - "ICD10:L50.2" - "MedDRA:10064570" - "OMIM:616115" - "UMLS:C0343068" "SCTID:31712002" "NANDO:1200439" "ICD9:571.6" @@ -71130,6 +71130,7 @@ "MEDGEN:6217" "Orphanet:511" "OMIMPS:248600" + "MetaCyc:CPD-7689" "EFO:0001670" "MA:0002877" "Wikipedia:Lymph_node#Lymph_nodes_of_the_thorax" @@ -71138,7 +71139,6 @@ "EMAPA:35555" "SCTID:181760002" "FMA:12774" - "MetaCyc:CPD-7689" "MEDGEN:815361" "OMIM:615285" "DOID:0112132" @@ -71174,12 +71174,12 @@ "ONCOTREE:LUAS" "DOID:4829" "PMID:29875488" - "PMID:37253714" "UMLS:C2748896" "MEDGEN:412662" "NCIT:C128188" "DOID:0111778" "OMIM:400044" + "PMID:37253714" "ICDO:9424/3" "GARD:10631" "Orphanet:251607" @@ -71972,8 +71972,6 @@ "DOID:0070099" "GARD:17598" "OMIM:615312" - "OMIM:615681" - "ICD10:G11.4" "UMLS:C0751427" "MEDGEN:199653" "DOID:0080320" @@ -71987,6 +71985,8 @@ "UMLS:C2931835" "GARD:6710" "OMIM:239510" + "OMIM:615681" + "ICD10:G11.4" "PMID:29875488" "ICD10:L66.1" "CAS:1398-61-4" @@ -72051,7 +72051,6 @@ "UMLS:C3150657" "UMLS:C4024742" "ZFA:0001431" - "EHDAA2:0000116" "EMAPA:16109" "BTO:0000065" "MESH:D000650" @@ -72065,6 +72064,7 @@ "NCIT:C12365" "UMLS:C0002630" "FMA:80223" + "EHDAA2:0000116" "NCIt:C4262" "SNOMEDCT:9574000" "MEDGEN:1648480" @@ -72553,16 +72553,16 @@ "SNOMEDCT:356624006" "NCIt:C48154" "ICD10:E66.8" + "PMID:37164013" + "Orphanet:98914" "SNOMEDCT_US:190882007" "UMLS:C0347959" "UMLS:C0001125" "SNOMEDCT_US:91273001" - "Orphanet:98914" "MEDGEN:234943" "DOID:4062" "UMLS:C1336727" "NCIT:C6359" - "PMID:37164013" "UMLS:C0544452" "NCIt:C18246" "PMID:22770225" @@ -72811,13 +72811,13 @@ "UMLS:C3494489" "UMLS:C0032326" "SNOMEDCT_US:36118008" + "VHOG:0000107" "AAO:0011017" "EFO:0003647" "Wikipedia:Chordamesoderm" "TAO:0001204" "XAO:0000205" "ZFA:0001204" - "VHOG:0000107" "GARD:93" "icd11.foundation:415074833" "DOID:0050472" @@ -72976,8 +72976,6 @@ "SNOMEDCT:72904005" "MeSH:D014210" "NCIt:C86825" - "SNOMEDCT:12368000" - "ICD10:K74.4" "UMLS:C0280329" "MEDGEN:83631" "DOID:7583" @@ -73001,6 +72999,8 @@ "MESH:C538175" "NCIT:C112831" "GARD:476" + "SNOMEDCT:12368000" + "ICD10:K74.4" "Orphanet:363528" "OMIM:615286" "DOID:0081099" @@ -73053,6 +73053,9 @@ "UMLS:C2931761" "MeSH:C538180" "MeSH:C538277" + "OMIM:619522" + "MEDGEN:1794194" + "UMLS:C5561984" "ICD9:757.39" "ICD10CM:Q82.2" "MESH:D001816" @@ -73068,18 +73071,15 @@ "NANDO:1200333" "NORD:863" "UMLS:C0005859" - "OMIM:619522" - "MEDGEN:1794194" - "UMLS:C5561984" "PMID:29875488" + "SNOMEDCT_US:430099007" + "UMLS:C1837658" "MedDRA:10052450" "ICD10:E72.2" "OMIM:311250" "MedDRA:10071107" "MeSH:D020163" "UMLS:C0268542" - "SNOMEDCT_US:430099007" - "UMLS:C1837658" "OMIM:242860" "OMIM:616910" "OMIM:614069" @@ -73186,6 +73186,7 @@ "DHBA:12667" "EMAPA:16290" "TAO:0001031" + "PMID:29875488" "SNOMEDCT:30767006" "MONDO:0006766" "DOID:4260" @@ -73194,7 +73195,6 @@ "MEDGEN:266930" "MeSH:D020235" "MedDRA:10070635" - "PMID:29875488" "OMIM:300471" "ICD10:Q87.8" "MedDRA:10007116" @@ -73216,6 +73216,7 @@ "OMIM:154780" "MeSH:C536025" "ICD10:Q87.0" + "NIFSTD:birnlex_577" "TGMA:0000005" "MAT:0000297" "BTO:0000420" @@ -73227,7 +73228,6 @@ "OMIM:619184" "MEDGEN:1782253" "DOID:0112358" - "NIFSTD:birnlex_577" "MEDGEN:1824055" "OMIM:620185" "UMLS:C5774282" @@ -73932,13 +73932,13 @@ "TAO:0001053" "EFO:0003612" "PMID:33634981" + "UMLS:C1527388" + "MeSH:D000652" + "ICD10:Q79.8" "PMID:31043756" "DOID:14042" "MedDRA:10004939" "MedDRA:10068455" - "UMLS:C1527388" - "MeSH:D000652" - "ICD10:Q79.8" "UMLS:C1832342" "OMIM:609069" "GARD:16670" @@ -74801,12 +74801,12 @@ "MEDGEN:400144" "PMID:33634981" "PMID:35347128" + "PMID:29875488" "NCIT:C114666" "SCTID:87696004" "UMLS:C0085692" "MEDGEN:508360" "DOID:0050859" - "PMID:29875488" "UMLS:C0006271" "SCTID:4120002" "NCIT:C39658" @@ -74840,7 +74840,6 @@ "UMLS:C4329735" "PMID:29875488" "Beilstein:9537192" - "NCIt:C4332" "MEDGEN:322257" "Orphanet:2792" "MESH:C563481" @@ -74848,6 +74847,7 @@ "UMLS:C1833691" "GARD:4169" "OMIMPS:166780" + "NCIt:C4332" "PMID:36168886" "ICD9:363.9" "UMLS:C4025836" @@ -75037,16 +75037,16 @@ "SNOMEDCT:420303002" "SNOMEDCT:136113003" "NCIt:C20496" + "UMLS:C1836916" + "MeSH:C536343" + "ICD10:G11.1" + "OMIM:609033" "Orphanet:438114" "MEDGEN:863760" "GARD:17734" "OMIM:616140" "UMLS:C4015323" "DOID:0060791" - "UMLS:C1836916" - "MeSH:C536343" - "ICD10:G11.1" - "OMIM:609033" "SNOMEDCT:438391000" "PMID:22550155" "PMID:23241746" @@ -75267,16 +75267,6 @@ "GO:0005623\n" "KUPO:0000002" "UMLS:C0854107" - "RRID:CVCL_R864" - "OMIM:617393" - "UMLS:C4479333" - "Orphanet:500545" - "MEDGEN:1377894" - "GARD:17930" - "Orphanet:424975" - "MEDGEN:1668494" - "UMLS:C4749400" - "GARD:21789" "OMIM:602535" "ICD10:Q87.3" "MeSH:C536026" @@ -75293,6 +75283,17 @@ "MEDGEN:57993" "MedDRA:10020041" "MONDO:0006559" + "RRID:CVCL_R864" + "OMIM:617393" + "UMLS:C4479333" + "Orphanet:500545" + "MEDGEN:1377894" + "GARD:17930" + "Orphanet:424975" + "MEDGEN:1668494" + "UMLS:C4749400" + "GARD:21789" + "PMID:35347128" "JAX:004435" "NANDO:1200317" "OMIM:274150" @@ -75304,7 +75305,6 @@ "UMLS:C1268935" "MEDGEN:224783" "ICD9:287.33" - "PMID:35347128" "MESH:D001139" "NCIT:C84570" "MEDGEN:2065" @@ -76175,9 +76175,6 @@ "MEDGEN:1807460" "OMIM:619762" "PMID:37794183" - "UMLS:C0263746" - "MONDO:0006632" - "MEDGEN:472992" "SCTID:33313004" "MEDGEN:57861" "UMLS:C0158761" @@ -76188,6 +76185,9 @@ "icd11.foundation:1098526181" "Orphanet:3269" "HP:0002974" + "UMLS:C0263746" + "MONDO:0006632" + "MEDGEN:472992" "UMLS:C4022387" "Orphanet:577" "NANDO:2200568" @@ -76272,8 +76272,8 @@ "CAS:4026-18-0" "PMID:35347128" "PMID:28240269" - "OMIM:209010" "PMID:34814699" + "OMIM:209010" "SCTID:36444000" "MESH:D056806" "NCIT:C84785" @@ -76456,9 +76456,9 @@ "ICD10:E85.1" "DOID:0050637" "PMID:37794183" - "PMID:35347128" "UMLS:C0024437" "SNOMEDCT_US:422338006" + "PMID:35347128" "PMID:35347128" "ZFA:0001270" "MEDGEN:75840" @@ -77041,11 +77041,11 @@ "MEDGEN:108273" "icd11.foundation:535412248" "GARD:5663" + "OMIM:300858" "UMLS:C1332922" "MEDGEN:234116" "NCIT:C7346" "MESH:D065310" - "OMIM:300858" "SCTID:719840003" "OMIM:266910" "Orphanet:3404" @@ -77493,15 +77493,15 @@ "DOID:0110652" "PMID:35668104" "PMID:29875488" + "PMID:33634981" "OMIM:608406" "ICD10:Q87.8" - "PMID:33634981" "MEDGEN:482569" "UMLS:C3280939" "OMIM:614474" "GAID:676" - "MESH:D017397" "FMA:224850" + "MESH:D017397" "BTO:0002807" "BAMS:FrA" "EMAPA:35356" @@ -77710,8 +77710,6 @@ "MeSH:D043368" "SNOMEDCT:114054002" "PMID:37794183" - "UMLS:C0151740" - "SNOMEDCT_US:271719001" "UMLS:C0334552" "MEDGEN:87263" "EFO:1000347" @@ -77720,6 +77718,8 @@ "NANDO:2200052" "DOID:4719" "ICDO:9250/3" + "UMLS:C0151740" + "SNOMEDCT_US:271719001" "PMID:24816252" "UMLS:C1849087" "MEDGEN:341379" @@ -77753,9 +77753,9 @@ "UMLS:C2348239" "GARD:0009270" "MEDGEN:389657" + "PMID:29875488" "PO:0009062" "BTO:0001733" - "PMID:29875488" "MEDGEN:1842307" "GARD:19225" "icd11.foundation:831687561" @@ -77834,15 +77834,15 @@ "SCTID:55821006" "NORD:738" "ICD10:Q87.8" + "PMID:29875488" "UMLS:C1868773" "MEDGEN:1806599" "DOID:0050850" - "PMID:29875488" + "PMID:33634981" "DOID:0070021" "MEDGEN:462794" "UMLS:C3151444" "Wikipedia:Hearing_(sense)" - "PMID:33634981" "UMLS:C2700007" "Orphanet:289661" "icd11.foundation:407807101" @@ -77921,8 +77921,6 @@ "icd11.foundation:1025219649" "PMID:29875488" "PMID:35347128" - "SNOMEDCT:116424004" - "MeSH:D034301" "neuronames:2347" "Wikipedia:Leptomeninges" "SCTID:362303006" @@ -77932,6 +77930,8 @@ "NCIT:C32979" "NLXANAT:090207" "BTO:0001634" + "SNOMEDCT:116424004" + "MeSH:D034301" "MEDGEN:274492" "DOID:4008" "NCIT:C40104" @@ -78256,6 +78256,10 @@ "OMIM:612968" "MEDGEN:442822" "MESH:C567835" + "ICD10:E34.8" + "UMLS:C0265344" + "OMIM:246200" + "MedDRA:10081903" "UMLS:C1844606" "OMIM:300431" "ICD10:Q87.8" @@ -78270,10 +78274,6 @@ "UMLS:C4225417" "OMIM:300967" "Orphanet:466791" - "ICD10:E34.8" - "UMLS:C0265344" - "OMIM:246200" - "MedDRA:10081903" "MONDO:0004957" "EFO:0000197" "UMLS:C0007130" @@ -78337,14 +78337,6 @@ "NCIT:C53684" "UMLS:C0347481" "DOID:0060123" - "MeSH:D002607" - "UMLS:C0007959" - "MedDRA:10034699" - "OMIM:616155" - "MedDRA:10008414" - "OMIM:616233" - "OMIM:608895" - "ICD10:G60.0" "MONDO:0005163" "UMLS:C1855677" "UMLS:C0024224" @@ -78357,6 +78349,14 @@ "MONDO:0006282" "MEDGEN:6154" "SCTID:403986008" + "MeSH:D002607" + "UMLS:C0007959" + "MedDRA:10034699" + "OMIM:616155" + "MedDRA:10008414" + "OMIM:616233" + "OMIM:608895" + "ICD10:G60.0" "PMID:29875488" "Reactome:R-HSA-71825" "Reactome:R-HSA-3262512" @@ -78406,9 +78406,9 @@ "MEDGEN:322520" "UMLS:C1834880" "OMIM:157151" - "PMID:29875488" "UMLS:C0497327" "SNOMEDCT_US:52448006" + "PMID:29875488" "Wikipedia:Steroid_metabolisms#Steroid_biosynthesis" "Orphanet:68378" "UM-BBD_pathwayID:met" @@ -78439,13 +78439,13 @@ "OMIM:185700" "MEDGEN:350018" "HP:0100263" - "PMID:36168886" - "PMID:28240269" "UMLS:C1709578" "NCIT:C45663" "MONDO:0006380" "MEDGEN:354059" "EFO:1000486" + "PMID:36168886" + "PMID:28240269" "DOID:0111797" "UMLS:C3151571" "OMIM:257400" @@ -78555,10 +78555,10 @@ "PMID:21177962" "NCIt:C111072" "PMID:25262759" - "PMID:29682794" "UMLS:C1504438" "MEDGEN:760198" "ZFA:0000063" + "PMID:29682794" "GARD:3854" "Orphanet:1877" "MeSH:D041781" @@ -78886,14 +78886,14 @@ "MEDGEN:1841161" "UMLS:C5830525" "OMIM:620376" - "Wikipedia:Antimetabolite" - "MeSH:D000963" - "NCIt:C85546" "MedDRA:10069402" "OMIM:314600" "ICD10:Q87.8" "MeSH:C536706" "UMLS:C0265239" + "Wikipedia:Antimetabolite" + "MeSH:D000963" + "NCIt:C85546" "PMID:29875488" "MEDGEN:154726" "UMLS:C0600518" @@ -79021,6 +79021,7 @@ "OMIM:231060" "MESH:C537683" "GARD:2460" + "PMID:29875488" "OMIM:601076" "UMLS:C4305568" "GARD:5513" @@ -79029,7 +79030,6 @@ "DOID:0112179" "icd11.foundation:1521808255" "SCTID:717705004" - "PMID:29875488" "KEGG COMPOUND:C01262" "HMDB:0000194" "UMLS:C0432130" @@ -79243,6 +79243,10 @@ "SNOMEDCT:982172491000087106" "PMID:29875488" "PMID:37794183" + "UMLS:C5190512" + "Orphanet:276422" + "GARD:21052" + "MEDGEN:1682781" "DOID:0111765" "SCTID:718128009" "GARD:1096" @@ -79252,10 +79256,6 @@ "OMIM:314400" "Orphanet:1864" "MEDGEN:78083" - "UMLS:C5190512" - "Orphanet:276422" - "GARD:21052" - "MEDGEN:1682781" "UMLS:C0428977" "SNOMEDCT_US:48867003" "Reactome:R-HSA-548831" @@ -79751,13 +79751,13 @@ "ICD9:287.4" "MEDGEN:509570" "icd11.foundation:526155201" + "UMLS:C1839410" + "OMIM:312190" + "MeSH:C535281" "DOID:0070385" "UMLS:C5562018" "OMIM:619606" "MEDGEN:1794228" - "UMLS:C1839410" - "OMIM:312190" - "MeSH:C535281" "FBbt:00004482" "UMLS:C0279765" "icd11.foundation:388735319" @@ -79909,7 +79909,6 @@ "NCIT:C37312" "MEDGEN:419905" "PMID:24816252" - "PMID:29875488" "SCTID:719136005" "GARD:9947" "Orphanet:137831" @@ -79918,17 +79917,18 @@ "UMLS:C1845366" "DOID:0080311" "MESH:C537456" - "OMIM:618608" + "PMID:29875488" "MEDGEN:569650" "UMLS:C0334346" "ICDO:8401/3" "NCIT:C4169" "DOID:4933" - "PMID:29535761" + "OMIM:618608" "UMLS:C1514430" "DOID:4011" "NCIT:C39898" "MEDGEN:271382" + "PMID:29535761" "BTO:0001072" "NCIt:C12806" "PMID:35668104" @@ -80079,6 +80079,8 @@ "ICD9:100.9" "OMIM:618571" "UMLS:C1843274" + "OMIM:614831" + "ICD10:G11.1" "PMCID:PMC9193570" "PMID:19804861" "PMID:25108762" @@ -80115,8 +80117,6 @@ "HMDB:HMDB0002994" "PMID:17336832" "PMID:35289142" - "OMIM:614831" - "ICD10:G11.1" "DOID:0050936" "UMLS:C1257877" "NCIT:C48576" @@ -80251,9 +80251,9 @@ "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03066&Product=CC" "UMLS:C3278923" "PMID:29875488" - "PMID:29875488" "NCIt:C66929" "MedDRA:10033109" + "PMID:29875488" "OMIM:617557" "UMLS:C4479652" "GARD:17947" @@ -80436,10 +80436,10 @@ "MedDRA:10047145" "ICD10CM:J30.0" "PMID:37794183" - "PMID:36168886" "UMLS:C0021432" "NCIT:C3139" "MEDGEN:5803" + "PMID:36168886" "PMID:28240269" "ICD10:E70.3" "OMIM:214500" @@ -80558,12 +80558,12 @@ "MESH:C536801" "GARD:10130" "UMLS:C1853490" + "ICD10:E70.8" "UMLS:C4225270" "MEDGEN:896409" "OMIM:616592" "Orphanet:477831" "GARD:17860" - "ICD10:E70.8" "MeSH:D009345" "SNOMEDCT:17872004" "NCIt:C86605" @@ -81031,6 +81031,18 @@ "NCIT:C118750" "MEDGEN:509774" "ICD9:370.24" + "icd11.foundation:535283437" + "NCIt:C3285" + "SCTID:4210003" + "MESH:D009798" + "MedDRA:10030043" + "DOID:9282" + "MONDO:0006875" + "UMLS:C0028840" + "SNOMEDCT:4210003" + "ICD9:365.04" + "MEDGEN:10423" + "MeSH:D009798" "PMID:29875488" "CLO:0009617" "RRID:CVCL_0580" @@ -81046,18 +81058,6 @@ "MEDGEN:1712714" "GARD:18523" "UMLS:C5394477" - "icd11.foundation:535283437" - "NCIt:C3285" - "SCTID:4210003" - "MESH:D009798" - "MedDRA:10030043" - "DOID:9282" - "MONDO:0006875" - "UMLS:C0028840" - "SNOMEDCT:4210003" - "ICD9:365.04" - "MEDGEN:10423" - "MeSH:D009798" "Orphanet:263793" "EFO:0002554" "VHOG:0000421" @@ -82037,8 +82037,8 @@ "GAID:376" "CALOHA:TS-0134" "MA:0000392" - "UMLS:C0007874" "NCIT:C12311" + "UMLS:C0007874" "MeSH:D005865" "OMIM:608363" "ICD10:Q92.3" @@ -82098,8 +82098,6 @@ "MEDGEN:508043" "SCTID:238525001" "UMLS:C0031736" - "OMIM:164310" - "ICD10:G71.0" "SNOMEDCT:75777003" "NCIt:C20464" "GARD:4582" @@ -82112,6 +82110,8 @@ "SCTID:707442002" "MESH:C535832" "OMIMPS:265120" + "OMIM:164310" + "ICD10:G71.0" "MONDO:0005554" "UMLS:C0009326" "MESH:D012216" @@ -82140,13 +82140,13 @@ "SNOMEDCT:50731006" "ICD10:Z41" "NCIt:C79751" - "PMID:35697867" "MEDGEN:1811493" "OMIM:619742" "UMLS:C5676914" "EFO:0003450" "TAO:0001212" "ZFA:0001212" + "PMID:35697867" "PMID:29535761" "OMIM:618622" "NCIT:C176263" @@ -82381,11 +82381,11 @@ "UMLS:C0393768" "MEDGEN:581569" "SCTID:192004002" - "PMID:24816252" "UMLS:C1334450" "MEDGEN:232712" "DOID:5764" "NCIT:C5668" + "PMID:24816252" "PMID:26960407" "CiteXplore:8884229" "PMID:8884229" @@ -82418,6 +82418,7 @@ "GARD:5177" "MEDGEN:347120" "MESH:C565867" + "OMIM:615688" "GAID:617" "neuronames:2677" "UMLS:C0004781" @@ -82434,8 +82435,8 @@ "BM:Tel-BG" "PBA:4001" "NCIT:C12447" - "OMIM:615688" "PMID:37794183" + "ICD10:Q10.3" "NCIt:C12594" "BTO:0001780" "FMA:62901" @@ -82453,7 +82454,6 @@ "Orphanet:99978" "MONDO:0003345" "UMLS:C0206702" - "ICD10:Q10.3" "GARD:20804" "UMLS:C5679663" "Orphanet:261841" @@ -82678,9 +82678,9 @@ "MEDDRA:10030136" "UMLS:C0014848" "SNOMEDCT_US:45564002" - "NCIt:C66801" "PMID:36168886" "PMID:28240269" + "NCIt:C66801" "UMLS:C0796176" "OMIM:601559" "ICD10:Q78.8" @@ -82921,8 +82921,8 @@ "NCIT:C7966" "MEDGEN:76007" "PMID:35347128" - "TAO:0000204" "galen:Esophagus" + "TAO:0000204" "MIAA:0000048" "AAO:0000145" "MESH:D004947" @@ -83070,12 +83070,12 @@ "Orphanet:53693" "GARD:1" "SCTID:703388005" + "PMID:35347128" "UMLS:C5680893" "icd11.foundation:801729371" "MEDGEN:1843186" "GARD:20560" "Orphanet:226292" - "PMID:35347128" "EHDAA:8279" "Wikipedia:Biceps_brachii_muscle" "UMLS:C0559499" @@ -83158,9 +83158,9 @@ "MAT:0000352" "BTO:0001804" "PMID:29875488" + "SNOMEDCT:286734003" "BTO:0005220" "RRID:CVCL_9555" - "SNOMEDCT:286734003" "PMID:33634981" "DOID:0080716" "GARD:17820" @@ -83251,8 +83251,8 @@ "UMLS:C0007785" "SCTID:432504007" "MEDGEN:3321" - "ICD9:433.21" "ICD9:434.91" + "ICD9:433.21" "NCIT:C50486" "CLO:0009251" "RRID:CVCL_0553" @@ -83286,7 +83286,6 @@ "galen:LeftAtrium" "NCIT:C12869" "SCTID:244387002" - "PMID:29875488" "MEDGEN:414346" "OMIM:613094" "DOID:0060836" @@ -83296,6 +83295,7 @@ "FBbt:00004482" "EFO:0001927" "BTO:0004711" + "PMID:29875488" "NANDO:2200251" "OMIM:605067" "icd11.foundation:845891723" @@ -83642,17 +83642,17 @@ "OMIM:311300" "OMIM:304120" "ICD10:Q87.0" + "PMID:30475886" "NCIT:C7091" "UMLS:C1333798" "MEDGEN:234305" - "PMID:30475886" "PMID:29875488" - "OMIM:601370" - "UMLS:C1832424" - "ICD10:Q04.2" "PMID:36168886" "PMID:28011148" "Orphanet:307995" + "OMIM:601370" + "UMLS:C1832424" + "ICD10:Q04.2" "NCIt:C139267" "MONDO:0006758" "MESH:D014384" @@ -84173,8 +84173,8 @@ "PMID:35995766" "DOID:0050855" "SNOMEDCT:197660000" - "HP:0030760" "MONDO:0000494" + "HP:0030760" "SCTID:197660000" "MEDGEN:508798" "MP:0003985" @@ -84342,8 +84342,8 @@ "KEGG:D08061" "PMID:21274596" "PMID:24389665" - "PMID:30053915" "PMID:37794183" + "PMID:30053915" "icd11.foundation:1831346835" "icd11.foundation:585339631" "ICD9:289.89" @@ -84684,13 +84684,13 @@ "MeSH:C535961" "UMLS:C0079299" "PMID:35347128" + "PMID:35347128" "MEDGEN:98371" "MESH:D020370" "MONDO:0005416" "ICD10:M17" "UMLS:C0409959" "MeSH:D020370" - "PMID:35347128" "PMID:25262759" "PMID:21177962" "PMID:32675219" @@ -84837,10 +84837,6 @@ "MEDGEN:224912" "GARD:21152" "MESH:D000077777" - "MEDGEN:1680976" - "UMLS:C5190578" - "GARD:21701" - "Orphanet:401840" "HP:0000070" "MedDRA:10056433" "UMLS:C0041960" @@ -84856,6 +84852,10 @@ "SNOMEDCT:12818004" "NCIT:C123159" "MeSH:D014518" + "MEDGEN:1680976" + "UMLS:C5190578" + "GARD:21701" + "Orphanet:401840" "NCIT:C61230" "SCTID:191256002" "MESH:C538494" @@ -85414,6 +85414,7 @@ "ICD10:Q87.8" "PMID:29875488" "PMID:35501403" + "PMID:37794183" "FMA:62967" "MIAA:0000057" "MAT:0000057" @@ -85421,7 +85422,6 @@ "EMAPA:36543" "BTO:0001232" "CALOHA:TS-0918" - "PMID:37794183" "SNOMEDCT_US:248062006" "UMLS:C0085271" "UMLS:C3808022" @@ -85485,8 +85485,8 @@ "MEDGEN:322759" "OMIM:615953" "UMLS:C1835808" - "PMID:35347128" "PMID:22309095" + "PMID:35347128" "PMID:24816252" "GARD:13423" "UMLS:C5567524" @@ -86351,6 +86351,9 @@ "DOID:0050637" "Orphanet:85448" "OMIM:105120" + "OMIM:619609" + "UMLS:C5562020" + "MEDGEN:1794230" "NCIt:C40157" "ICD9:621.34" "UMLS:C1516855" @@ -86358,9 +86361,6 @@ "MONDO:0006193" "NCIT:C40157" "SCTID:134031000119108" - "OMIM:619609" - "UMLS:C5562020" - "MEDGEN:1794230" "SCTID:23414001" "MEDGEN:82859" "NCIT:C27062" @@ -86428,13 +86428,13 @@ "PMID:29875488" "UMLS:C4073168" "PMID:29230059" + "ICD10:H35.0" + "OMIM:617341" + "OMIM:612199" "DOID:3001" "MONDO:0002480" "UMLS:C0474809" "OMIM:618635" - "ICD10:H35.0" - "OMIM:617341" - "OMIM:612199" "Orphanet:262794" "icd11.foundation:325064766" "MEDGEN:208643" @@ -86563,7 +86563,6 @@ "ICD10:Q87.0" "PMID:29875488" "PMID:37794183" - "OMIM:608615" "OMIMPS:134600" "DOID:11573" "NCIT:C82994" @@ -86580,6 +86579,7 @@ "MeSH:D008088" "MedDRA:10024641" "UMLS:C0023860" + "OMIM:608615" "UMLS:C1854912" "MEDGEN:770987" "EFO:0000281" @@ -86687,10 +86687,10 @@ "UMLS:C1880931" "ICD9:578" "SNOMEDCT_US:74474003" + "PMID:36210801" "UMLS:C1860118" "OMIM:201180" "ICD10:Q75.1" - "PMID:36210801" "OMIM:618590" "PMID:29875488" "Orphanet:309130" @@ -87157,14 +87157,14 @@ "MEDGEN:9635" "MeSH:D007674" "DOID:557" - "MedDRA:10064569" - "UMLS:C0268390" - "ICD10:E85.0" - "OMIM:191900" "OMIM:608389" "OMIM:602588" "OMIM:120502" "ICD10:Q87.0" + "MedDRA:10064569" + "UMLS:C0268390" + "ICD10:E85.0" + "OMIM:191900" "MedDRA:10018201" "NCIT:C84588" "DOID:1455" @@ -87223,9 +87223,9 @@ "UMLS:C5774255" "OMIM:620125" "PMID:34814699" + "PMID:35501403" "GARD:4859" "Orphanet:1940" - "PMID:35501403" "MEDDRA:10001926" "SNOMEDCT_US:62588002" "UMLS:C0002447" @@ -87483,9 +87483,9 @@ "DOID:0080240" "OMIM:300997" "UMLS:C4478379" - "PMID:29875488" "Orphanet:420733" "OMIM:615918" + "PMID:29875488" "MESH:C536900" "HGNC:11784" "UMLS:C2931365" @@ -87523,11 +87523,11 @@ "ICD10:S27" "PMID:29875488" "PMID:24816252" + "PMID:28240269" "GARD:20110" "UMLS:C5191057" "MEDGEN:1676191" "Orphanet:168999" - "PMID:28240269" "GARD:15844" "OMIM:614819" "MEDGEN:766699" @@ -87763,6 +87763,7 @@ "MEDGEN:41445" "ICD9:293.0" "UMLS:C0011206" + "PMID:29875488" "PMID:32641083" "GARD:17349" "SCTID:722439009" @@ -87774,7 +87775,6 @@ "BTO:0001363" "MA:0002765" "SAEL:93" - "PMID:29875488" "NANDO:2200605" "Orphanet:425" "RRID:CVCL_6263" @@ -88044,8 +88044,8 @@ "ICDO:8551/3" "MEDGEN:224757" "DOID:7729" - "NCIT:C5727" "UMLS:C1266087" + "NCIT:C5727" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02938&Product=CC" "UMLS:C0037011" "SNOMEDCT_US:45326000" @@ -88297,15 +88297,6 @@ "NCIT:C9382" "UMLS:C0007113" "MEDGEN:40100" - "Orphanet:487825" - "MEDGEN:356049" - "MESH:C566559" - "OMIM:602342" - "DOID:0081362" - "UMLS:C1865644" - "GARD:17885" - "NCIt:C61017" - "SNOMEDCT:34608000" "UMLS:C0751583" "Orphanet:83476" "GARD:9959" @@ -88317,6 +88308,15 @@ "MONDO:0019376" "MeSH:D014901" "MESH:D014901" + "Orphanet:487825" + "MEDGEN:356049" + "MESH:C566559" + "OMIM:602342" + "DOID:0081362" + "UMLS:C1865644" + "GARD:17885" + "NCIt:C61017" + "SNOMEDCT:34608000" "DOID:0060106" "UMLS:C0349604" "DOID:0080842" @@ -88457,9 +88457,6 @@ "MEDGEN:1803695" "UMLS:C5676898" "OMIM:619702" - "MEDGEN:934646" - "OMIM:617180" - "UMLS:C4310679" "OMIM:612394" "MONDO:0019316" "MEDGEN:22588" @@ -88476,6 +88473,9 @@ "OMIM:154800" "Orphanet:79457" "NCIT:C3433" + "MEDGEN:934646" + "OMIM:617180" + "UMLS:C4310679" "RRID:CVCL_T012" "PMID: 8394948" "MONDO:0006474" @@ -88703,6 +88703,11 @@ "Medgen:CN239376" "PMID:36210801" "PMID:33634981" + "MEDGEN:82675" + "UMLS:C0264248" + "NCIT:C3932" + "SCTID:23966000" + "ICD9:471.8" "MEDGEN:763877" "OMIM:300888" "Orphanet:329235" @@ -88710,11 +88715,6 @@ "UMLS:C3550963" "NCIT:C130989" "DOID:0111140" - "MEDGEN:82675" - "UMLS:C0264248" - "NCIT:C3932" - "SCTID:23966000" - "ICD9:471.8" "NCIt:C14222" "SNOMEDCT:35354009" "TAO:0001410" @@ -88792,10 +88792,10 @@ "MEDGEN:1639138" "UMLS:C4706257" "SCTID:763061004" - "ZFA:0001359" - "TAO:0001359" "PMID:29875488" "PMID:35347128" + "ZFA:0001359" + "TAO:0001359" "NCIT:C116006" "MESH:D014069" "ICD10CM:J35.01" @@ -88827,6 +88827,7 @@ "NCIT:C4775" "MEDGEN:96924" "EFO:1000907" + "ICD10:Q87.8" "MESH:C536056" "GARD:4151" "UMLS:C1843330" @@ -88834,7 +88835,6 @@ "DOID:0110937" "Orphanet:2783" "MEDGEN:335932" - "ICD10:Q87.8" "MeSH:C536017" "UMLS:C0220685" "OMIM:200610" @@ -89285,12 +89285,6 @@ "MESH:C562385" "UMLS:C0085576" "OMIM:206200" - "UMLS:C2931894" - "OMIM:252500" - "ICD10:E77.0" - "MedDRA:10072928" - "MeSH:C538602" - "UMLS:C0020725" "Orphanet:226" "OMIM:261630" "UMLS:C0268465" @@ -89300,6 +89294,12 @@ "GARD:4319" "icd11.foundation:1931239861" "SCTID:58256000" + "UMLS:C2931894" + "OMIM:252500" + "ICD10:E77.0" + "MedDRA:10072928" + "MeSH:C538602" + "UMLS:C0020725" "EFO:0005287" "MESH:D008228" "UMLS:C0024302" @@ -89774,8 +89774,6 @@ "ICDO:8140/3" "SCTID:443961001" "MEDGEN:122" - "NCIt:C64489" - "SNOMEDCT:397798009" "ZFS:0000032" "OMIM:611283" "NCIT:C129975" @@ -89784,6 +89782,8 @@ "GARD:10223" "Orphanet:79159" "UMLS:C1969809" + "NCIt:C64489" + "SNOMEDCT:397798009" "PMID:24816252" "GARD:17871" "MEDGEN:1798945" @@ -90284,14 +90284,14 @@ "Orphanet:1272" "SCTID:720955004" "UMLS:C0795941" - "FMA:23466" "SCTID:181948009" + "FMA:23466" "VSAO:0005013" "UMLS:C0041600" - "MESH:D014457" "GAID:188" "AAO:0000789" "EMAPA:19104" + "MESH:D014457" "Wikipedia:Ulna" "MA:0001358" "galen:Ulna" @@ -90455,10 +90455,10 @@ "NCIT:C4027" "SCTID:254898001" "MedGen:893379" + "PMID:33048379" "OMIM:609622" "OMIM:609621" "OMIM:609620" - "PMID:33048379" "OMIM:601543" "OMIM:615629" "OMIM:608645" @@ -90585,12 +90585,12 @@ "MEDGEN:934645" "UMLS:C4310678" "OMIM:617182" - "ICD10:Q96.2" - "ICD10:Q96.1" "MEDGEN:1386340" "DOID:3318" "NCIT:C38151" "UMLS:C4518194" + "ICD10:Q96.2" + "ICD10:Q96.1" "PMID:28240269" "PMID:29875488" "NCIt:C568" @@ -90701,8 +90701,8 @@ "ICD10:Q73.8" "OMIM:617086" "OMIM:614388" - "PMID:28240269" "PMID:29875488" + "PMID:28240269" "Orphanet:482072" "PMID:29875488" "UMLS:C0796021" @@ -91393,11 +91393,6 @@ "NCIT:C7317" "PMID:37164013" "PMID:29875488" - "UMLS:C0010078" - "MEDGEN:40491" - "MeSH:D003333" - "DOID:2948" - "MONDO:0005718" "ZFS:0000027" "DrugBank:DB02656" "PMID:10638524" @@ -91415,6 +91410,11 @@ "KEGG:C15195" "PDBeChem:LY2" "PMID:24666011" + "UMLS:C0010078" + "MEDGEN:40491" + "MeSH:D003333" + "DOID:2948" + "MONDO:0005718" "PMID:23823483" "BTO:0001408" "PMID:29875488" @@ -91444,6 +91444,7 @@ "MedDRA:10078802" "OMIM:617675" "MedDRA:10027710" + "PMID:33619548" "MEDGEN:1798912" "Orphanet:488191" "GARD:17887" @@ -91453,7 +91454,6 @@ "GARD:16035" "OMIM:615959" "UMLS:C4014814" - "PMID:33619548" "OMIM:612868" "UMLS:C2748502" "GARD:16880" @@ -91817,6 +91817,7 @@ "MESH:C535799" "MEDGEN:163223" "DOID:0112195" + "KEGG COMPOUND:C08677" "NCIt:C38053" "ICD9:89.52" "MeSH:D004562" @@ -91833,7 +91834,6 @@ "NCIT:C98878" "NCIt:C12869" "BTO:0001702" - "KEGG COMPOUND:C08677" "DSSTox_Generic_SID:40416" "UMLS:C0013362" "SNOMEDCT_US:8011004" @@ -91848,11 +91848,11 @@ "SCTID:128139000" "UMLS:C0154251" "MedDRA:10061227" + "PMID:28240269" "ICD10:Q87.0" "OMIM:183700" "UMLS:C1866741" "UMLS:C3489790" - "PMID:28240269" "KEGG:C06574" "Patent:US3157640" "Patent:US2985648" @@ -91930,6 +91930,7 @@ "NCIT:C9134" "DOID:5592" "PMID:28613276" + "ICD10:Q99.8" "MESH:C567404" "GARD:12900" "SCTID:768666006" @@ -91943,7 +91944,6 @@ "MeSH:C537174" "OMIM:600331" "ICD10:Q87.8" - "ICD10:Q99.8" "PMID:37794183" "MEDGEN:1709039" "GARD:18736" @@ -92258,10 +92258,10 @@ "PMID:37794183" "PMID:35347128" "ZFA:0000904" - "PMID:29875488" "ZFS:0000030" - "PMID:35347128" + "PMID:29875488" "NCIt:C61015" + "PMID:35347128" "OMIM:615360" "DOID:0110217" "GARD:15950" @@ -92559,11 +92559,11 @@ "NCIt:C35062" "icd11.foundation:1327645131" "MedDRA:10043097" + "PMID:29875488" "ONCOTREE:URCC" "EFO:1000603" "NCIT:C27892" "UMLS:C1336853" - "PMID:29875488" "PMID:9573679" "MEDGEN:777988" "MESH:C580174" @@ -92673,6 +92673,7 @@ "OMIM:614435" "UMLS:C3280795" "MedDRA:10021076" + "OMIM:617308" "EHDAA:7009" "FMA:9704" "WBbt:0005777" @@ -92682,7 +92683,6 @@ "BTO:0001409" "XAO:0000144" "WBbt:0004540" - "OMIM:617308" "PMID:20325309" "PMID:28316592" "DrugBank:DB01051" @@ -92726,10 +92726,10 @@ "NCIT:C3416" "ICD10:C02" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02970&Product=CC" - "DOID:0060116" "MEDGEN:1778117" "UMLS:C5543623" "OMIM:619418" + "DOID:0060116" "SNOMEDCT:28539009" "PMID:28240269" "SCTID:11164009" @@ -92791,19 +92791,6 @@ "icd11.foundation:1025202057" "GARD:12821" "UMLS:C5680451" - "UMLS:C0004045" - "MONDO:0006663" - "SNOMEDCT:28314004" - "NCIT:C116313" - "ICD9:768.9" - "DOID:11088" - "SCTID:28314004" - "GARD:19875" - "MEDGEN:2469" - "icd11.foundation:1281282034" - "MeSH:D001238" - "MESH:D001238" - "Orphanet:137577" "Orphanet:2394" "SCTID:29914000" "UMLS:C5574660" @@ -92818,6 +92805,19 @@ "Orphanet:31" "DOID:0081326" "GARD:617" + "UMLS:C0004045" + "MONDO:0006663" + "SNOMEDCT:28314004" + "NCIT:C116313" + "ICD9:768.9" + "DOID:11088" + "SCTID:28314004" + "GARD:19875" + "MEDGEN:2469" + "icd11.foundation:1281282034" + "MeSH:D001238" + "MESH:D001238" + "Orphanet:137577" "HP:0008711" "NCIT:C2897" "ICD9:600.0" @@ -92899,11 +92899,11 @@ "ICD10:H18.5" "UMLS:C1857572" "MeSH:C535473" - "UMLS:C0267557" - "SNOMEDCT_US:15699003" "PMID:29875488" "CAS:14402-89-2" "PMID:25425768" + "UMLS:C0267557" + "SNOMEDCT_US:15699003" "NCIT:C140268" "UMLS:C0270749" "MEDGEN:78726" @@ -92996,11 +92996,11 @@ "UMLS:C4082197" "SCTID:715795005" "Orphanet:64749" + "PMID:35050183" "MEDGEN:858066" "NCIT:C114940" "DOID:176" "UMLS:C3898472" - "PMID:35050183" "MESH:C563575" "MEDGEN:1686757" "GARD:16486" @@ -93065,11 +93065,6 @@ "PMID:35347128" "ZFA:0000153" "PMID:35995766" - "ICD10:E75.2" - "UMLS:C1858991" - "UMLS:C2931489" - "OMIM:603896" - "MeSH:C537420" "UMLS:C1865639" "GARD:3396" "OMIM:602361" @@ -93080,6 +93075,11 @@ "ICD10CM:Q78.0" "Orphanet:2763" "PMID:37794183" + "ICD10:E75.2" + "UMLS:C1858991" + "UMLS:C2931489" + "OMIM:603896" + "MeSH:C537420" "MONDO:0005688" "icd11.foundation:1012026026" "SCTID:86500004" @@ -93185,7 +93185,6 @@ "NCIt:C4778" "MedDRA:10056780" "MedDRA:10004336" - "OMIM:309583" "MedDRA:10064212" "MeSH:D057765" "MONDO:0005361" @@ -93204,6 +93203,7 @@ "MESH:D057765" "MeSH:D052198" "SNOMEDCT:23029008" + "OMIM:309583" "PMID:24816252" "PMID:31005972" "UMLS:C1333014" @@ -93221,8 +93221,8 @@ "EFO:1000239" "DOID:7139" "MEDGEN:309057" - "UMLS:C1516858" "icd11.foundation:845680139" + "UMLS:C1516858" "PMID:29875488" "UMLS:C2931672" "MEDGEN:419468" @@ -93274,16 +93274,16 @@ "NANDO:2100132" "UMLS:C0857899" "MESH:D006994" - "UMLS:C0393584" - "OMIM:215450" - "OMIM:118700" - "ICD10:G25.5" "MEDGEN:462056" "GARD:12640" "UMLS:C3150706" "OMIM:613456" "DOID:0081047" "Orphanet:306542" + "UMLS:C0393584" + "OMIM:215450" + "OMIM:118700" + "ICD10:G25.5" "PMID:37794183" "MEDGEN:324953" "OMIM:600419" @@ -93303,7 +93303,6 @@ "SCTID:88230002" "MEDGEN:538042" "UMLS:C0263661" - "PMID:33634981" "MESH:D014552" "DOID:0080784" "NCIt:C50791" @@ -93315,6 +93314,7 @@ "SNOMEDCT:68566005" "MeSH:D014552" "MONDO:0100338" + "PMID:33634981" "UMLS:C0206081" "NCIt:C113215" "MedDRA:10065597" @@ -93344,9 +93344,9 @@ "PMID:26792818" "PMID:36209301" "PMID:35347128" + "Orphanet:98553" "MO:86" "MO:61" - "Orphanet:98553" "UMLS:C5551510" "DOID:0112022" "GARD:22669" @@ -93354,11 +93354,11 @@ "MEDGEN:1790509" "PMID:37164013" "PMID:29875488" - "PMID:34815255" "NCIT:C40277" "UMLS:C1519914" "MEDGEN:274378" "DOID:4117" + "PMID:34815255" "PMID:23823483" "MONDO:0005719" "MESH:D018352" @@ -93469,20 +93469,20 @@ "DOID:3750" "MEDGEN:234975" "NCIT:C6165" + "CLO:0008350" + "RRID:CVCL_0479" + "BTO:0001591" "MESH:D013280" "ICD10:K12" "DOID:9637" "ICD9:528.00" "MEDGEN:52511" "ICD9:528.0" - "UMLS:C0038362" "NCIT:C26887" + "UMLS:C0038362" "MedDRA:10042128" "SCTID:61170000" "MONDO:0004842" - "CLO:0008350" - "RRID:CVCL_0479" - "BTO:0001591" "ONCOTREE:OMGCT" "NCIT:C8114" "MEDGEN:83602" @@ -94026,11 +94026,10 @@ "CAS:17090-79-8" "LINCS:LSM-5659" "KEGG:C06693" + "KEGG COMPOUND:C17962" "ICD10:Q87.0" "OMIM:300484" "UMLS:C0796101" - "KEGG COMPOUND:C17962" - "PMID:29875488" "SCTID:715474004" "OMIM:228900" "GARD:9879" @@ -94044,6 +94043,7 @@ "MEDGEN:148408" "NCIT:C84622" "UMLS:C0751878" + "PMID:29875488" "GARD:8594" "MEDGEN:383668" "UMLS:C1855369" @@ -94399,6 +94399,7 @@ "OMIM:611383" "ICD10:H35.5" "OMIM:605472" + "PMID:35013273" "Orphanet:93218" "MedDRA:10008724" "MEDGEN:8584" @@ -94412,7 +94413,6 @@ "UMLS:C0013903" "GARD:1301" "DOID:12714" - "PMID:35013273" "PMID:37794183" "UMLS:C1849348" "MeSH:C535677" @@ -94563,8 +94563,8 @@ "icd11.foundation:581886860" "SCTID:445928005" "NORD:1081" - "ZFS:0000031" "PMID:29875488" + "ZFS:0000031" "PMID:35347128" "DOID:4808" "UMLS:C0014378" @@ -94596,6 +94596,11 @@ "MEDGEN:234108" "NCIT:C5146" "UMLS:C1332900" + "AAO:0000474" + "TAO:0001217" + "EFO:0003453" + "ZFA:0001217" + "AAO:0010625" "MeSH:C537116" "OMIM:151100" "ICD10:Q87.8" @@ -94606,11 +94611,6 @@ "MedDRA:10057210" "UMLS:C2931424" "MeSH:D044542" - "AAO:0000474" - "TAO:0001217" - "EFO:0003453" - "ZFA:0001217" - "AAO:0010625" "Gmelin:1774558" "Beilstein:3629953" "UMLS:C4540367" @@ -94858,11 +94858,11 @@ "MEDGEN:339565" "OMIM:607214" "GARD:5123" - "PMID:21177962" "MEDGEN:1843389" "GARD:19269" "Orphanet:95483" "UMLS:C5681576" + "PMID:21177962" "MA:0000109" "VSAO:0000094" "FMA:64783" @@ -95174,10 +95174,6 @@ "Orphanet:98130" "ICD9:758.5" "SCTID:429442006" - "UMLS:C0796038" - "MeSH:C538158" - "OMIM:248950" - "ICD10:Q87.8" "UMLS:C0856863" "UMLS:C0014871" "GAID:292" @@ -95186,6 +95182,10 @@ "MESH:D004943" "SCTID:362130006" "NCIT:C32668" + "UMLS:C0796038" + "MeSH:C538158" + "OMIM:248950" + "ICD10:Q87.8" "PMID:29875488" "DOID:10187" "UMLS:C1333455" @@ -95250,8 +95250,8 @@ "MESH:D003315" "EV:0100341" "EFO:0000377" - "PMID:37794183" "PMID:35347128" + "PMID:37794183" "Orphanet:3412" "GARD:272" "icd11.foundation:1646268729" @@ -95282,6 +95282,13 @@ "Orphanet:29073" "PMID:35347128" "GO:0004336" + "MedDRA:10052313" + "ICD10:I15.1" + "MeSH:D056929" + "OMIM:177200" + "MedDRA:10037113" + "UMLS:C0221043" + "OMIM:618126" "MedDRA:10065551" "ICD10:F01.1" "OMIM:125310" @@ -95298,13 +95305,6 @@ "MESH:C535865" "GARD:2045" "PMID:28355232" - "MedDRA:10052313" - "ICD10:I15.1" - "MeSH:D056929" - "OMIM:177200" - "MedDRA:10037113" - "UMLS:C0221043" - "OMIM:618126" "MEDGEN:767353" "UMLS:C3554439" "GARD:17468" @@ -95319,18 +95319,17 @@ "UMLS:C4023588" "PMID:35347128" "PMID:29875488" - "MeSH:D012285" - "SNOMEDCT:114233001" "DOID:14150" "MEDGEN:236836" "NCIT:C5157" "UMLS:C1336044" + "MeSH:D012285" + "SNOMEDCT:114233001" "MEDGEN:1802087" "UMLS:C5676908" "OMIM:619725" "UMLS:C4023476" "PMID:35668104" - "OMIM:607823" "SNOMEDCT:442143003" "EMAPA:28393" "Wikipedia:Distal_convoluted_tubule" @@ -95340,6 +95339,7 @@ "NCIT:C32469" "EV:0100389" "UMLS:C0022676" + "OMIM:607823" "MeSH:D052958" "GARD:21705" "Orphanet:401923" @@ -95368,6 +95368,10 @@ "GARD:17261" "MEDGEN:453209" "PMID:29875488" + "UMLS:C2931373" + "OMIM:607214" + "MeSH:C536948" + "ICD10:Q87.8" "Orphanet:261120" "OMIM:613457" "SCTID:719047001" @@ -95375,10 +95379,6 @@ "GARD:17241" "UMLS:C3150707" "DOID:0060392" - "UMLS:C2931373" - "OMIM:607214" - "MeSH:C536948" - "ICD10:Q87.8" "DECIPHER:44" "UMLS:C2931817" "MESH:C538317" @@ -96182,8 +96182,8 @@ "PMID:35995766" "NCIt:C37417" "PMID:29875488" - "PMID:28369058" "SNOMEDCT:74040009" + "PMID:28369058" "NCIT:C4914" "MONDO:0002656" "UMLS:C0699893" @@ -96547,8 +96547,8 @@ "NANDO:2100154" "MESH:D011081" "NANDO:2200428" - "Orphanet:178493" "SNOMEDCT:312898002" + "Orphanet:178493" "MedDRA:10082754" "MONDO:0015807" "MEDGEN:676480" @@ -96639,8 +96639,8 @@ "ICD10CM:G89.4" "NCIt:C34452" "MedDRA:10007736" - "PMID:23823483" "OMIM:262700" + "PMID:23823483" "DOID:0081287" "OMIM:193900" "MEDGEN:860363" @@ -96965,6 +96965,8 @@ "DOID:10188" "UMLS:C0347394" "PMID:29875488" + "RRID:CVCL_G042" + "PMID: 19466639" "MESH:D010304" "SCTID:71906005" "MEDGEN:45334" @@ -97022,12 +97024,10 @@ "PMID:27249899" "SNOMEDCT:54765002" "Patent:US1954389" - "RRID:CVCL_G042" - "PMID: 19466639" "MEDGEN:83291" "DOID:774" - "NCIT:C4365" "SCTID:232075002" + "NCIT:C4365" "UMLS:C0339556" "ICD9:198.4" "UMLS:C1858033" @@ -97049,6 +97049,7 @@ "icd11.foundation:2108931494" "PMID:37794183" "PMID:35347128" + "MONDO:0005301" "Chemspider:24823001" "LIPID_MAPS_instance:LMGP01050003" "NCIT:C3453" @@ -97072,7 +97073,6 @@ "SCTID:302824004" "icd11.foundation:375645550" "GARD:0007918" - "MONDO:0005301" "PMID:37794183" "NANDO:1200671" "MESH:D011038" @@ -97394,7 +97394,6 @@ "SCTID:79261008" "PMID:28240269" "RRID:CVCL_B269" - "PMID:36168886" "SNOMEDCT:412421007" "Beilstein:1723795" "SNOMEDCT:25761002" @@ -97407,6 +97406,7 @@ "Gmelin:27318" "KNApSAcK:C00001359" "Wikipedia:Glutamine" + "PMID:36168886" "Orphanet:353298" "OMIM:616651" "OMIM:300258" @@ -97716,10 +97716,10 @@ "MO:778" "PMID:35347128" "PMID:37794183" + "ZFA:0000130" "MEDGEN:1840955" "UMLS:C5830319" "OMIM:620270" - "ZFA:0000130" "MeSH:D000027" "NCIt:C50608" "MedDRA:10021634" @@ -97896,16 +97896,16 @@ "DOID:0112174" "GARD:18196" "PMID:35347128" + "FBdv:0005333" + "MAT:0000399" + "EV:0300011" + "EVM:2990031" "UMLS:C0010246" "MESH:D003384" "MeSH:D003384" "MONDO:0005721" "DOID:10545" "MEDGEN:1159" - "FBdv:0005333" - "MAT:0000399" - "EV:0300011" - "EVM:2990031" "PMID:29875488" "PMID:18564034" "MAT:0000366" @@ -97917,9 +97917,11 @@ "PMID:24816252" "OMIM:137763" "MeSH:D060750" - "PMID:33713409" - "UMLS:C0266312" - "NCIt:C103918" + "SCTID:724070005" + "UMLS:C4510306" + "Orphanet:261304" + "GARD:20777" + "MEDGEN:1390091" "FMA:83036" "MESH:D003713" "BTO:0002042" @@ -97929,11 +97931,9 @@ "SNOMEDCT:127942009" "CALOHA:TS-0194" "SNOMEDCT:37510001" - "SCTID:724070005" - "UMLS:C4510306" - "Orphanet:261304" - "GARD:20777" - "MEDGEN:1390091" + "PMID:33713409" + "UMLS:C0266312" + "NCIt:C103918" "SNOMEDCT:434537005" "Orphanet:79316" "GARD:4278" @@ -97973,10 +97973,10 @@ "UMLS:C0426970" "Orphanet:93604" "PMID:29875488" - "ICD10:E72.8" - "OMIM:300352" "FMA:72356" "MeSH:D018728" + "ICD10:E72.8" + "OMIM:300352" "PMID:29875488" "UMLS:C1840457" "RRID:CVCL_1K15" @@ -98627,11 +98627,11 @@ "DOID:277" "MONDO:0006375" "EFO:1000480" - "NCIt:C5716" "UMLS:C1837015" "OMIM:608984" "DOID:0111170" "MEDGEN:332346" + "NCIt:C5716" "Wikipedia:Erythropoiesis" "DOID:1965" "MEDGEN:274488" @@ -98736,6 +98736,7 @@ "UMLS:C0391826" "UMLS:C1266181" "ICD10:Q04.8" + "PMID:37794183" "OMIM:601706" "Orphanet:3214" "MESH:C536771" @@ -98744,7 +98745,6 @@ "UMLS:C1866425" "SCTID:721084001" "icd11.foundation:2090985024" - "PMID:37794183" "PMID:37794183" "PMID:33441150" "PMID:33927553" @@ -98977,10 +98977,10 @@ "UMLS:C0018681" "ICD10:R51" "PMID:29875488" + "PMID:28628107" "SNOMEDCT_US:40159009" "UMLS:C0024433" "PMID:37253714" - "PMID:28628107" "MESH:C567843" "MEDGEN:414119" "UMLS:C2751831" @@ -99137,11 +99137,11 @@ "MEDGEN:509876" "ICD9:376.0" "SCTID:20551005" + "PMID:29875488" + "PMID:29875488" "SNOMEDCT:246115007" "PATO:0000117" "NCIt:C25681" - "PMID:29875488" - "PMID:29875488" "UMLS:C1856603" "Orphanet:33574" "OMIM:230450" @@ -100975,9 +100975,9 @@ "UMLS:C0023452" "MEDGEN:44122" "NCIT:C3168" - "PMID:37794183" "PMID:33441150" "PMID:24627715" + "PMID:37794183" "PMID:26921259" "MEDGEN:1799995" "UMLS:C5568572" @@ -101781,9 +101781,9 @@ "GARD:3986" "SCTID:416377005" "NCIT:C3840" - "PMID:29875488" "NCIt:C69141" "MO:893" + "PMID:29875488" "UMLS:C1855848" "OMIM:241310" "GARD:2907" @@ -101905,8 +101905,8 @@ "DOID:2962" "NCIt:C9460" "MeSH:D003057" - "OMIM:604320" "PMID:23823483" + "OMIM:604320" "MO:213" "NCIt:C20134" "MeSH:D012907" @@ -102081,6 +102081,9 @@ "MESH:D047808" "UMLS:C0302280" "ICD9:255.2" + "UMLS:C1841989" + "OMIM:137940" + "MeSH:C536825" " CLO:0050249" "RRID:CVCL_3155" "CLO:0008820" @@ -102096,9 +102099,6 @@ "XAO:0003030" "EMAPA:17412" "BTO:0001729" - "UMLS:C1841989" - "OMIM:137940" - "MeSH:C536825" "MeSH:D020203" "PMID:37794183" "MEDGEN:60009" @@ -102177,7 +102177,6 @@ "UMLS:C0279000" "ICD10CM:C22.1" "GARD:21786" - "PMID:28928442" "EMAPA:36035" "EFO:0000295" "MESH:D001755" @@ -102197,6 +102196,7 @@ "GARD:18615" "OMIM:115200" "Orphanet:300751" + "PMID:28928442" "PMID:33634981" "LIPID_MAPS_instance:LMFA03010003" "PMID:16787416" @@ -102260,8 +102260,8 @@ "Orphanet:83619" "MEDGEN:1391725" "GARD:19044" - "UMLS:C0038012" "MESH:D013166" + "UMLS:C0038012" "ICD9:720.89" "DOID:6590" "ICD9:720.8" @@ -102489,14 +102489,6 @@ "NCIt:C12477" "FMA:54537" "BTO:0000099" - "SCTID:92272009" - "ICD9:227.1" - "MEDGEN:57814" - "UMLS:C0154041" - "NCIT:C3630" - "icd11.foundation:455097662" - "ICD10CM:D35.1" - "DOID:60008" "ICD10:E51.1" "ICD9:265.0" "MeSH:D001602" @@ -102511,6 +102503,14 @@ "MONDO:0006676" "SNOMEDCT:36656008" "MESH:D001602" + "SCTID:92272009" + "ICD9:227.1" + "MEDGEN:57814" + "UMLS:C0154041" + "NCIT:C3630" + "icd11.foundation:455097662" + "ICD10CM:D35.1" + "DOID:60008" "PMID:28240269" "MEDGEN:82998" "UMLS:C0278863" @@ -102713,11 +102713,11 @@ "GARD:17763" "UMLS:C5568981" "PMID:19347970" - "PMID:34260947" "UMLS:C5436647" "OMIM:619033" "MEDGEN:1776566" "DOID:0081397" + "PMID:34260947" "UMLS:C0013415" "MEDGEN:8517" "MESH:D019263" @@ -103448,14 +103448,14 @@ "MESH:C536680" "SCTID:715987000" "OMIM:270460" - "UMLS:C1135812" - "SNOMEDCT_US:263029007" "DOID:8138" "MONDO:0006452" "MEDGEN:234772" "EFO:1000577" "NCIT:C6463" "UMLS:C1335924" + "UMLS:C1135812" + "SNOMEDCT_US:263029007" "MEDGEN:44264" "ICD9:151.4" "UMLS:C0024623" @@ -103646,8 +103646,8 @@ "Wikipedia:Biliary_system" "SCTID:361354009" "GAID:279" - "NCIT:C12678" "FMA:79646" + "NCIT:C12678" "MESH:D001659" "MA:0001273" "MeSH:D018354" @@ -103659,6 +103659,9 @@ "NCIt:C117183" "BTO:0002805" "Orphanet:207122" + "UMLS:C1859432" + "OMIM:210745" + "ICD10:Q87.8" "PMID:19911007" "PMID:20420449" "PMID:26338495" @@ -103699,9 +103702,6 @@ "PMID:24392160" "PMID:17616140" "PMID:26994919" - "UMLS:C1859432" - "OMIM:210745" - "ICD10:Q87.8" "UMLS:C1849937" "NCIt:C53656" "UMLS:C0009768" @@ -103824,8 +103824,8 @@ "NCIT:C26832" "icd11.foundation:1993728609" "UMLS:C0026975" - "DOID:322" "ICD9:323.9" + "DOID:322" "MEDGEN:10230" "MedDRA:10028524" "MEDGEN:1823997" @@ -103921,9 +103921,9 @@ "NCIT:C133727" "Orphanet:2323" "MESH:C537157" - "PMID:37596262" "OMIM:614253" "ICD10:K00.5" + "PMID:37596262" "PMID:29875488" "UMLS:C0221259" "SNOMEDCT_US:60332004" @@ -104190,8 +104190,8 @@ "NCIT:C45655" "EFO:1000521" "FMA:61906" - "MO:392" "PMID:23823483" + "MO:392" "PMID:29875488" "DOID:0050466" "UMLS:C2697932" @@ -104921,9 +104921,9 @@ "PMID:29875488" "Orphanet:98623" "PMID:35347128" + "RRID:CVCL_0620" "CLO:0007636" "BTO:0001569" - "RRID:CVCL_0620" "PMID:24816252" "EFO:0000304" "MEDGEN:167809" @@ -105643,8 +105643,8 @@ "Orphanet:163699" "ICD10:C49.9" "OMIM:606243" - "MONDO:0011655" "SCTID:404056007" + "MONDO:0011655" "ICD9:171.9" "NCIT:C7943" "GARD:16385" @@ -105807,18 +105807,18 @@ "DOID:0050588" "OMIM:613155" "UMLS:C5436962" - "MEDGEN:349246" - "OMIM:205100" - "UMLS:C1859807" - "DOID:0060194" - "MESH:C565957" - "GARD:15137" "DOID:13129" "ICD9:642.50" "icd11.foundation:479404771" "UMLS:C0341950" "NCIT:C112843" "MEDGEN:574734" + "MEDGEN:349246" + "OMIM:205100" + "UMLS:C1859807" + "DOID:0060194" + "MESH:C565957" + "GARD:15137" "Orphanet:2552" "MedDRA:10053982" "MEDGEN:39278" @@ -106080,6 +106080,10 @@ "icd11.foundation:1757434239" "OMIM:600643" "NCIt:C84619" + "PMID:21612224" + "Reaxys:89967" + "CAS:16874-75-2" + "HMDB:HMDB0028878" "DOID:2999" "NCIT:C3070" "MESH:D006106" @@ -106088,10 +106092,6 @@ "MEDGEN:6676" "UMLS:C0018206" "MONDO:0006036" - "PMID:21612224" - "Reaxys:89967" - "CAS:16874-75-2" - "HMDB:HMDB0028878" "PMID:23823483" "MEDGEN:541265" "SCTID:28710006" @@ -106128,8 +106128,8 @@ "MEDGEN:1843079" "icd11.foundation:2097520643" "PMID:26068415" - "PMID:35347128" "PMID:34503513" + "PMID:35347128" "MEDGEN:1823998" "UMLS:C5774225" "OMIM:620066" @@ -106313,11 +106313,8 @@ "PMID:29875488" "UMLS:CN202699" "Orphanet:280195" - "RRID:CVCL_5591" - "CLO:0009919" - "BTO:0005476" - "PMID:10718481" - "PMID:10604729" + "KEGG COMPOUND:C00544" + "HMDB:0000130" "ICD9:126.8" "ICD9:126.9" "UMLS:C0002831" @@ -106334,8 +106331,11 @@ "NCIT:C35805" "MEDGEN:1522" "Orphanet:78" - "KEGG COMPOUND:C00544" - "HMDB:0000130" + "RRID:CVCL_5591" + "CLO:0009919" + "BTO:0005476" + "PMID:10718481" + "PMID:10604729" "Orphanet:16" "OMIM:303700" "DOID:0050679" @@ -106441,6 +106441,8 @@ "Orphanet:397587" "UMLS:C1395264" "NCIT:C35073" + "OMIM:614229" + "ICD10:G11.1" "NANDO:1201077" "icd11.foundation:1401673748" "SCTID:717792007" @@ -106450,8 +106452,6 @@ "MEDGEN:420958" "OMIM:612462" "MESH:C548076" - "OMIM:614229" - "ICD10:G11.1" "ZFA:0001072" "UMLS:C0229577" "EMAPA:19307" @@ -106479,13 +106479,13 @@ "SCTID:764812008" "UMLS:C4707155" "PMID:35347128" - "NCIt:C12748" "DOID:0080647" "UMLS:C2698312" "GARD:22346" "Orphanet:585942" "MEDGEN:437498" "NCIT:C80338" + "NCIt:C12748" "MEDGEN:163204" "SCTID:449817000" "Orphanet:709" @@ -106644,14 +106644,14 @@ "ICD9:204.9" "ICDO:9835/3" "MEDGEN:7317" + "Wikipedia:Erythrasma" + "MedDRA:10015248" + "DOID:4131" "SNOMEDCT_US:422400008" "SNOMEDCT_US:300359004" "UMLS:C0042963" "SNOMEDCT_US:249497008" "MEDDRA:10047700" - "Wikipedia:Erythrasma" - "MedDRA:10015248" - "DOID:4131" "PMID:28240269" "MeSH:D019342" "PMID:16774200" @@ -106701,8 +106701,8 @@ "UMLS:C0011350" "MA:0002543" "VSAO:0000065" - "XAO:0004198" "Wikipedia:Enamel_organ" + "XAO:0004198" "MESH:D003743" "BTO:0001844" "FMA:55629" @@ -106743,11 +106743,11 @@ "OMIM:620014" "UMLS:C5774203" "DOID:0081030" + "PMID:24816252" "ICD10:Q87.8" "OMIM:311900" "MeSH:C536942" "UMLS:C1839463" - "PMID:24816252" "PMID:33634981" "MEDGEN:1842423" "UMLS:C5681010" @@ -106761,9 +106761,9 @@ "PMID:35347128" "MeSH:D020250" "PMID:29875488" + "MO:23" "OMIM:313900" "ICD10:D69.4" - "MO:23" "NCIt:C64780" "MO:721" "SNOMEDCT:258775009" @@ -106931,15 +106931,15 @@ "MEDGEN:83868" "SCTID:189130001" "NCIT:C6434" + "UMLS:C0795830" + "UMLS:C0265425" + "ICD10:Q93.5" + "OMIM:158170" "KEGG:C15637" "Beilstein:2706221" "MeSH:D011285" "CAS:1434-54-4" "LINCS:LSM-2870" - "UMLS:C0795830" - "UMLS:C0265425" - "ICD10:Q93.5" - "OMIM:158170" "UMLS:C1846434" "PMID:37794183" "UMLS:C4023701" @@ -107355,13 +107355,13 @@ "SCTID:26484003" "UMLS:C0006015" "PMID:29875488" + "PMID:24816252" "UMLS:C1853116" "GARD:12234" "OMIM:610743" "MEDGEN:343973" "DOID:0111618" "Orphanet:88644" - "PMID:24816252" "MESH:C563037" "UMLS:C0748473" "OMIM:108100" @@ -107408,6 +107408,7 @@ "PMID:22268687" "PMID:35347128" "PMID:35668104" + "NCIt:C129690" "Orphanet:210548" "MEDGEN:381416" "MESH:C565342" @@ -107419,7 +107420,6 @@ "UMLS:C4750848" "MEDGEN:1655582" "Orphanet:370010" - "NCIt:C129690" "NCIt:C122523" "MedDRA:10058931" "MEDGEN:509492" @@ -108307,6 +108307,10 @@ "MeSH:D002590" "ICD10:B71" "DOID:933" + "ICD10CM:Q87.8" + "OMIM:236680" + "DOID:0050779" + "OMIM:614120" "BTO:0001197" "RRID:CVCL_2874" "CLO:0002333" @@ -108315,10 +108319,6 @@ "MEDGEN:307248" "DOID:6518" "PMID:31085678" - "ICD10CM:Q87.8" - "OMIM:236680" - "DOID:0050779" - "OMIM:614120" "PMID:37794183" "Orphanet:90037" "SCTID:309742004" @@ -108347,6 +108347,7 @@ "EHDAA2:0001707" "UMLS:C1849121" "UMLS:C1837463" + "PMID:29875488" "Orphanet:217385" "UMLS:C3808300" "MESH:C567705" @@ -108355,7 +108356,6 @@ "SCTID:719582007" "GARD:17122" "OMIM:613215" - "PMID:29875488" "PMID:37794183" "NCIt:C101888" "OMIMPS:607602" @@ -108623,8 +108623,6 @@ "NCIt:C12622" "SNOMEDCT:56685008" "BTO:0004267" - "PMID:10718481" - "PMID:10604729" "icd11.foundation:2005274000" "SCTID:442652006" "UMLS:C0162576" @@ -108639,6 +108637,8 @@ "Orphanet:1070" "ICD10CM:B81.0" "GARD:693" + "PMID:10718481" + "PMID:10604729" "SCTID:255181009" "MEDGEN:138081" "UMLS:C0347354" @@ -108752,6 +108752,11 @@ "MONDO:0005484" "DOID:0050860" "UMLS:C1302401" + "MedDRA:10061976" + "DOID:1234" + "UMLS:C0017250" + "NCIt:C94362" + "ICD10:F64" "EMAPA:18256" "BTO:0001978" "NCIT:C12375" @@ -108772,11 +108777,6 @@ "MESH:C535780" "ICD9:758.89" "OMIM:272460" - "MedDRA:10061976" - "DOID:1234" - "UMLS:C0017250" - "NCIt:C94362" - "ICD10:F64" "MEDGEN:3623" "NCIT:C35505" "ICD9:414.00" @@ -108815,6 +108815,17 @@ "UMLS:C0339985" "MEDGEN:573462" "PMID:35347128" + "UMLS:C0015230" + "ICD9:782.1" + "DOID:0050486" + "Wikipedia:Exanthem" + "MEDGEN:8732" + "SCTID:271807003" + "MESH:D005076" + "NCIT:C39594" + "MedDRA:10015585" + "MONDO:0006547" + "HP:0000988" "OMIM:151380" "ICD10:C92.7" "ONCOTREE:AMOL" @@ -108866,17 +108877,6 @@ "SCTID:764940002" "GARD:17450" "Orphanet:319465" - "UMLS:C0015230" - "ICD9:782.1" - "DOID:0050486" - "Wikipedia:Exanthem" - "MEDGEN:8732" - "SCTID:271807003" - "MESH:D005076" - "NCIT:C39594" - "MedDRA:10015585" - "MONDO:0006547" - "HP:0000988" "UMLS:C0040425" "SNOMEDCT_US:90176007" "ICD10:J03" @@ -108886,11 +108886,11 @@ "PMID:35347128" "MCC:0000356" "NCIt:C14352" - "ZFA:0001210" "MEDGEN:1633653" "UMLS:C4693733" "DOID:0070398" "OMIM:617951" + "ZFA:0001210" "NCIT:C33286" "MA:0002423" "SCTID:181621006" @@ -109907,13 +109907,13 @@ "MedDRA:10039179" "UMLS:C0013364" "PMID:29875488" - "PMID:37164013" - "ICD10:Q87.2" "MeSH:C535718" "OMIM:223370" "UMLS:C0175691" "ICD10:Q87.1" "MedDRA:10059589" + "PMID:37164013" + "ICD10:Q87.2" "UMLS:C1518231" "MEDGEN:276545" "DOID:6212" @@ -110147,11 +110147,11 @@ "UMLS:C0347126" "MEDGEN:83854" "NCIT:C4594" + "OMIM:613162" + "ICD10:G11.4" "CLO:0003433" "RRID:CVCL_1220" "BTO:0001584" - "OMIM:613162" - "ICD10:G11.4" "MEDGEN:21056" "MedDRA:10070738" "SCTID:444150000" @@ -110334,9 +110334,9 @@ "MEDGEN:75591" "UMLS:C0265985" "DOID:4702" + "PMID:35347128" "OMIM:604117" "ICD10:Q82.8" - "PMID:35347128" "PMID:35347128" "PMID:35347128" "NCIt:C117184" @@ -110584,6 +110584,7 @@ "OMIM:618828" "MEDGEN:1719418" "UMLS:C5394218" + "PMID:35347128" "SNOMEDCT:89695009" "PMID:21438171" "PMID:14961139" @@ -110629,7 +110630,6 @@ "PMID:18331849" "PMID:11072877" "NCIt:C62082" - "PMID:35347128" "PMID:37794183" "ICD9:016.60" "MEDGEN:546959" @@ -110712,6 +110712,7 @@ "MEDGEN:355700" "OMIM:601744" "UMLS:C1866373" + "PMID:29875488" "BAMS:MES" "TAO:0000148" "EFO:0003432" @@ -110719,7 +110720,6 @@ "EMAPA:16140" "Wikipedia:Mesencephalon" "ZFA:0000148" - "PMID:29875488" "UMLS:C1519207" "DOID:5760" "MEDGEN:276789" @@ -110801,6 +110801,13 @@ "UMLS:C5848305" "MESH:D011164" "PMID:29875488" + "MEDGEN:3013" + "UMLS:C0008153" + "DOID:50358" + "MeSH:D002694" + "ICD10:A70" + "MESH:D002694" + "MONDO:0020776" "DOID:3361" "MEDGEN:272464" "NCIT:C6585" @@ -110813,6 +110820,16 @@ "MEDGEN:1824024" "UMLS:C5774251" "OMIM:620113" + "SCTID:235746007" + "SNOMEDCT:235746007" + "ICD9:558.9" + "NCIt:C27110" + "icd11.foundation:553916326" + "ICD10CM:K52.3" + "MONDO:0006038" + "MEDGEN:87418" + "NCIT:C27110" + "UMLS:C0341332" "MeSH:D005141" "ICD10:H03" "ICD10CM:H00" @@ -110829,23 +110846,6 @@ "MONDO:0003382" "DOID:530" "ICD10:H02" - "MEDGEN:3013" - "UMLS:C0008153" - "DOID:50358" - "MeSH:D002694" - "ICD10:A70" - "MESH:D002694" - "MONDO:0020776" - "SCTID:235746007" - "SNOMEDCT:235746007" - "ICD9:558.9" - "NCIt:C27110" - "icd11.foundation:553916326" - "ICD10CM:K52.3" - "MONDO:0006038" - "MEDGEN:87418" - "NCIT:C27110" - "UMLS:C0341332" "PMID:29875488" "SNOMEDCT:431293008" "ICD10:Q20.1" @@ -111247,11 +111247,11 @@ "GARD:1037" "MESH:C566226" "ICD10:Q87.8" - "PMID:31226389" "RRID:CVCL_2300" " CLO:0001766" "CLO:0001765" "BTO:0001077" + "PMID:31226389" "UMLS:C5680783" "Orphanet:280365" "MEDGEN:1808090" @@ -111432,9 +111432,9 @@ "SNOMEDCT:3951002" "NCIt:C38011" "SCTID:3951002" - "NCIT:C38011" "MEDGEN:46113" "DOID:3127" + "NCIT:C38011" "MedDRA:10036774" "UMLS:C0033246" "MESH:D011349" @@ -111657,12 +111657,12 @@ "EFO:1000191" "MEDGEN:474460" "NCIT:C96503" + "MedDRA:10043275" "NCIt:C117192" "DOID:2072" "NCIT:C40283" "MEDGEN:276998" "UMLS:C1520097" - "MedDRA:10043275" "SCTID:33979003" "Orphanet:2633" "OMIM:163400" @@ -111737,17 +111737,17 @@ "NANDO:2200017" "NANDO:2200018" "MedDRA:10067399" + "OMIM:301008" + "OMIM:149730" + "ICD10:Q87.8" + "UMLS:C0265269" "OMIM:616084" "Orphanet:369861" "UMLS:C4015172" "DOID:0080209" "GARD:17586" "MEDGEN:863609" - "OMIM:149730" - "ICD10:Q87.8" - "UMLS:C0265269" "PMID:29875488" - "OMIM:301008" "MAT:0000340" "EFO:0000831" "MA:0000316" @@ -111778,7 +111778,6 @@ "SCTID:702380008" "UMLS:C0751356" "PMID:37794183" - "PMID:29875488" "NANDO:2200559" "DOID:3321" "ICD10CM:E75.0" @@ -111790,7 +111789,7 @@ "SCTID:33316007" "UMLS:C0268274" "MEDGEN:78656" - "PMID:35264221" + "PMID:29875488" "UMLS:C0031110" "EMAPA:35681" "FMA:24041" @@ -111805,6 +111804,7 @@ "UMLS:C1739148" "NCIt:C97140" "MedDRA:10066665" + "PMID:35264221" "NANDO:1200579" "GARD:10865" "MEDGEN:96605" @@ -112568,8 +112568,8 @@ "EV:0100387" "MA:0000377" "MESH:D007684" - "ZFA:0001287" "GAID:433" + "ZFA:0001287" "BTO:0000343" "Wikipedia:Renal_tubule" "SCTID:361332007" @@ -113264,9 +113264,6 @@ "UMLS:C1335170" "MEDGEN:235420" "NCIT:C5235" - "UMLS:C1838654" - "OMIM:600092" - "ICD10:Q87.1" "ZFA:0009309" "BTO:0000751" "NCIt:C12529" @@ -113275,6 +113272,9 @@ "SNOMEDCT:52501007" "NCIT:C12529" "CALOHA:TS-0549" + "UMLS:C1838654" + "OMIM:600092" + "ICD10:Q87.1" "MESH:C537615" "UMLS:C2931547" "Orphanet:3082" @@ -113382,8 +113382,8 @@ "CAS:2140-46-7" "KEGG:C15519" "UMLS:C1866010" - "PMID:37164013" "PMID:24816252" + "PMID:37164013" "SCTID:403900000" "ICDO:8074/3" "ICD9:199.1" @@ -113643,8 +113643,8 @@ "EHDAA:8203" "EHDAA:4993" "FMA:7406" - "EHDAA:4985" "EHDAA:4977" + "EHDAA:4985" "EHDAA:4955" "EHDAA:4963" "EHDAA:8175" @@ -113912,7 +113912,6 @@ "Orphanet:309155" "GARD:7604" "SCTID:238018004" - "KEGG COMPOUND:C18514" "NCIT:C34527" "UMLS:C0011303" "DOID:3213" @@ -113929,6 +113928,7 @@ "SCTID:75072002" "MEDGEN:61528" "GARD:12033" + "KEGG COMPOUND:C18514" "DOID:0081082" "MONDO:0018871" "EFO:0000223" @@ -114098,8 +114098,8 @@ "UMLS:C0034183" "MESH:D011702" "DOID:2744" - "MeSH:D011702" "NCIt:C34964" + "MeSH:D011702" "MedDRA:10037584" "SNOMEDCT:27174002" "Orphanet:183487" @@ -114226,7 +114226,6 @@ "PMID:35050183" "PMID:33634981" "UMLS:C0596070" - "UMLS:C0240709" "PMID:22211106" "CAS:71-50-1" "NCIt:C94719" @@ -114242,6 +114241,7 @@ "Reaxys:1901470" "SNOMEDCT:54526002" "Beilstein:1901470" + "UMLS:C0240709" "OMIM:602639" "UMLS:C1865092" "MESH:C566513" @@ -114451,13 +114451,13 @@ "UMLS:C1332536" "NCIT:C7617" "DOID:0050622" + "PMID:35501403" "Orphanet:93335" "SCTID:715707008" "MEDGEN:357425" "UMLS:C1868120" "icd11.foundation:366939273" "GARD:16818" - "PMID:35501403" "SCTID:700423003" "MONDO:0006047" "EFO:1000044" @@ -114498,8 +114498,6 @@ "UMLS:C2931473" "MeSH:C537335" "Wikipedia:Fusion_protein" - "OMIM:108900" - "ICD10:Q21.1" "GARD:16919" "MEDGEN:1830482" "Orphanet:99854" @@ -114510,6 +114508,8 @@ "SNOMEDCT_US:204888000" "UMLS:C0678230" "PMID:37794183" + "OMIM:108900" + "ICD10:Q21.1" "PMID:29875488" "PMID:33067605" "EFO:0003802" @@ -114639,7 +114639,6 @@ "UMLS:C0235812" "NCIt:C50587" "MedDRA:10054835" - "EV:0100391" "CALOHA:TS-0860" "ZFA:0005294" "GAID:434" @@ -114651,6 +114650,7 @@ "MA:0000371" "SCTID:28202009" "EMAPA:28407" + "EV:0100391" "ATC_code:G" "PMID:32641083" "NANDO:2201361" @@ -114702,13 +114702,15 @@ "CLO:0007640" "BTO:0001908" "PMID:24816252" - "PMID:24018204" "OMIM:121800" "UMLS:C0271287" "MeSH:C535475" "ICD10:H18.5" + "PMID:24018204" "VFB:FBbt_00005824" "FBbt:00005824" + "PMID:21177962" + "PMID:25262759" "MEDGEN:369590" "SCTID:720853005" "GARD:17045" @@ -114716,8 +114718,6 @@ "OMIM:611291" "MESH:C566970" "UMLS:C1969799" - "PMID:21177962" - "PMID:25262759" "UMLS:C3280677" "MEDGEN:482307" "OMIM:614395" @@ -114831,8 +114831,6 @@ "OMIM:612347" "GARD:10364" "MESH:C567343" - "OMIM:606482" - "ICD10:G60.0" "MeSH:D013275" "MEDGEN:1679277" "Orphanet:401830" @@ -114862,8 +114860,11 @@ "PMID:16659174" "PPDB:1680" "PMID:27665925" + "OMIM:606482" + "ICD10:G60.0" "DOID:0081072" "OMIMPS:213980" + "PMID:28240269" "CSP:0571-2717" "UMLS:C0334533" "MEDGEN:137780" @@ -114873,7 +114874,6 @@ "MESH:D001165" "DOID:11294" "NCIT:C2882" - "PMID:28240269" "GARD:784" "SCTID:720515009" "MEDGEN:350677" @@ -115279,6 +115279,7 @@ "MEDGEN:41839" "ICD9:752.62" "UMLS:C0014588" + "PMID:35347128" "UMLS:C1868576" "MEDGEN:401473" "GARD:4176" @@ -115286,7 +115287,6 @@ "Orphanet:1179" "SCTID:763127004" "MESH:C566817" - "PMID:35347128" "GARD:10869" "UMLS:C1837388" "MEDGEN:233663" @@ -115326,11 +115326,11 @@ "SCTID:247604006" "UMLS:C0227578" "FMA:16011" + "PMID:29875488" "MEDGEN:412576" "UMLS:C2748542" "MONDO:0005449" "ICD10:I45" - "PMID:29875488" "OMIM:618885" "UMLS:C5394387" "MEDGEN:1709627" @@ -115448,10 +115448,6 @@ " CLO:0051387" "RRID:CVCL_0194" "PMID:35148957" - "UMLS:C4749580" - "MEDGEN:1659846" - "GARD:21083" - "Orphanet:280384" "MedDRA:10012432" "UMLS:C0234894" "NCIt:C35277" @@ -115462,12 +115458,18 @@ "MONDO:0006521" "MedDRA:10000520" "SNOMEDCT:402644006" + "UMLS:C4749580" + "MEDGEN:1659846" + "GARD:21083" + "Orphanet:280384" "MEDGEN:710723" "DOID:12168" "UMLS:C1288279" "ICD9:354.2" "SCTID:367475009" "UMLS:C1861866" + "OMIM:614588" + "ICD10:G24.1" "RRID:CVCL_RW39" "RRID:CVCL_0042" "CLO:0009454" @@ -115478,8 +115480,6 @@ "UMLS:C0154084" "MESH:D000071960" "DOID:8791" - "OMIM:614588" - "ICD10:G24.1" "AAO:0000733" "XAO:0000056" "EFO:0003475" @@ -115728,11 +115728,6 @@ "CALOHA:TS-2032" "FBbt:00005074" "FMA:67328" - "TGMA:0000720" - "ZFA:0001114" - "MAT:0000017" - "FBbt:00003007" - "MA:0000316" "SCTID:420422005" "ICD9:250.1" "NCIt:C50530" @@ -115746,6 +115741,11 @@ "MONDO:0012819" "SNOMEDCT:420422005" "MEDGEN:8351" + "TGMA:0000720" + "ZFA:0001114" + "MAT:0000017" + "FBbt:00003007" + "MA:0000316" "UMLS:C0341703" "MEDGEN:137960" "NCIT:C4377" @@ -115934,8 +115934,6 @@ "UMLS:C0206132" "MeSH:D017668" "ICD10:E77.8" - "OMIM:616684" - "ICD10:G60.0" "NCIT:C3962" "UMLS:C1863236" "NANDO:1200323" @@ -115950,9 +115948,9 @@ "NANDO:2200696" "ICD9:277.2" "DOID:5810" + "OMIM:616684" + "ICD10:G60.0" "PMID:28240269" - "NCIt:C7588" - "ICD10:D47" "MEDGEN:1731194" "UMLS:C5435765" "OMIM:500013" @@ -115961,6 +115959,8 @@ "UMLS:C0853394" "SCTID:423673009" "DOID:8427" + "NCIt:C7588" + "ICD10:D47" "PMID:26068415" "UMLS:C5680583" "Orphanet:183447" @@ -116268,11 +116268,17 @@ "PMID:29875488" "ZFA:0000648" "PMID:35050183" - "SNOMEDCT_US:42341009" - "UMLS:C0001816" "MGI:2160001" "TGEMO:00042" "PMID:33634981" + "SNOMEDCT_US:42341009" + "UMLS:C0001816" + "UMLS:C4015184" + "MEDGEN:863621" + "Orphanet:445110" + "OMIM:616094" + "GARD:17769" + "DOID:0112381" "icd11.foundation:1005849639" "NCIT:C122789" "DOID:0050759" @@ -116285,12 +116291,6 @@ "GARD:9728" "Orphanet:606" "MEDGEN:419137" - "UMLS:C4015184" - "MEDGEN:863621" - "Orphanet:445110" - "OMIM:616094" - "GARD:17769" - "DOID:0112381" "PMID:33634981" "SCTID:84209002" "ICD10CM:F44.0" @@ -116361,6 +116361,11 @@ "PMID:37794183" "PMID:29875488" "PMID:35995766" + "GARD:20965" + "UMLS:C5680741" + "Orphanet:268810" + "icd11.foundation:1464755755" + "MEDGEN:1806905" "MESH:D007897" "icd11.foundation:1942095878" "ICD10CM:B55.2" @@ -116373,11 +116378,6 @@ "NCIT:C34769" "UMLS:C1328252" "DOID:9155" - "GARD:20965" - "UMLS:C5680741" - "Orphanet:268810" - "icd11.foundation:1464755755" - "MEDGEN:1806905" "Wikipedia:Artery#Systemic_arteries" "FMA:66464" "EMAPA:37126" @@ -116896,9 +116896,6 @@ "Orphanet:956" "GARD:511" "OMIMPS:157640" - "UMLS:C0339543" - "SNOMEDCT_US:367649002" - "SNOMEDCT_US:133853005" "NCIT:C3437" "ICD9:239.5" "MEDGEN:22608" @@ -116907,6 +116904,9 @@ "UMLS:C0042258" "SCTID:126921000" "ONCOTREE:VULVA" + "UMLS:C0339543" + "SNOMEDCT_US:367649002" + "SNOMEDCT_US:133853005" "MESH:C537446" "SCTID:763743003" "Orphanet:1891" @@ -116980,8 +116980,8 @@ "UMLS:C0339124" "NCIT:C4360" "MEDGEN:83280" - "PMID:36168886" "PMID:35347128" + "PMID:36168886" "PMID:25493955" "PMID:37794183" "OMIM:618050" @@ -117789,7 +117789,6 @@ "GARD:16110" "PMID:37794183" "PMID:29875488" - "PMID:34503513" "PMID:37794183" "UMLS:C3693482" "ICDO:8832/3" @@ -117823,11 +117822,12 @@ "GARD:21667" "Orphanet:399380" "MEDGEN:1842788" - "Orphanet:93458" + "PMID:34503513" "SNOMEDCT_US:289190003" "UMLS:C0454555" "SNOMEDCT_US:229645001" "UMLS:C0566620" + "Orphanet:93458" "SCTID:236467001" "MEDGEN:90966" "UMLS:C0341702" @@ -118182,16 +118182,16 @@ "HMDB:HMDB0061694" "Beilstein:8177685" "LIPID_MAPS_instance:LMGP03050001" - "OMIM:615553" "UMLS:C0032285" "SNOMEDCT_US:233604007" "KEGG:C15790" "Beilstein:7416517" "LIPID_MAPS_instance:LMST01030132" "KNApSAcK:C00007275" - "PMID:23823483" "RGD:10044" "NIFSTD:birnlex_320" + "OMIM:615553" + "PMID:23823483" "WBbt:0005451" "NCIt:C61019" "SNOMEDCT:105011006" @@ -118243,6 +118243,11 @@ "SCTID:725044000" "GARD:12395" "Orphanet:263494" + "MESH:D019292" + "MEDGEN:138208" + "UMLS:C0376527" + "NCIT:C4676" + "DOID:3842" "Orphanet:894" "NCIT:C75008" "ICD10CM:E70.3" @@ -118252,11 +118257,6 @@ "MEDGEN:376211" "UMLS:C1847800" "OMIM:193500" - "MESH:D019292" - "MEDGEN:138208" - "UMLS:C0376527" - "NCIT:C4676" - "DOID:3842" "UMLS:C1370506" "NCIT:C5794" "DOID:6015" @@ -118434,8 +118434,8 @@ "NCIT:C8401" "MEDGEN:7187" "UMLS:C0022374" - "MESH:D007580" "SCTID:126834003" + "MESH:D007580" "OMIM:193235" "PMID:37794183" "OMIM:613243" @@ -118514,25 +118514,25 @@ "MEDGEN:373202" "OMIM:609048" "NCIT:C27744" - "UMLS:C0270891" "DOID:3688" + "UMLS:C0270891" "ICD10:G54" "UMLS:C1335437" "MONDO:0024432" "SCTID:2231001" "MEDGEN:543047" "NCIt:C27744" + "GARD:15421" + "OMIM:607829" + "UMLS:C1843003" + "MESH:C564326" + "MEDGEN:335856" "MONDO:0006163" "UMLS:C3272809" "EFO:1000196" "ICDO:8213/3" "MEDGEN:474442" "NCIT:C96485" - "GARD:15421" - "OMIM:607829" - "UMLS:C1843003" - "MESH:C564326" - "MEDGEN:335856" "PMID:28240269" "PMID:29875488" "SNOMEDCT_US:71325002" @@ -118763,12 +118763,12 @@ "ICD10:E77.8" "OMIM:613489" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG02884&Product=CC" + "PMID:35347128" "DOID:1886" "MESH:D018178" "MeSH:D018178" "SCTID:111865007" "MONDO:0005763" - "PMID:35347128" "MeSH:C536079" "OMIM:236680" "Wikipedia:Hydrolethalus_syndrome" @@ -119310,8 +119310,8 @@ "SNOMEDCT_US:111516008" "SNOMEDCT_US:246636008" "UMLS:C0344232" - "PMID:23823483" "PMID:37794183" + "PMID:23823483" "GO:0042748" "OMIM:277590" "NORD:1839" @@ -119394,6 +119394,7 @@ "MEDGEN:104919" "DOID:1800" "ICDO:8246/3" + "PMID:35347128" "DOID:2722" "UMLS:C0001197" "CSP:4008-0032" @@ -119404,7 +119405,6 @@ "ICD9:686.8" "SCTID:8197001" "MONDO:0006523" - "PMID:35347128" "UMLS:C2750442" "OMIM:613280" "CAS:7763-65-7" @@ -119565,7 +119565,6 @@ "Orphanet:1580" "MEDGEN:321954" "NCIT:C130982" - "HMDB:0032822" "UMLS:C4015285" "MEDGEN:863722" "OMIM:616117" @@ -119580,6 +119579,7 @@ "DOID:1803" "MEDGEN:14344" "SCTID:84299009" + "HMDB:0032822" "GARD:11951" "NANDO:2200056" "UMLS:C0035412" @@ -119651,8 +119651,8 @@ "MEDGEN:1648372" "OMIM:618265" "UMLS:C4748872" - "PMID:28240269" "UMLS:C0341059" + "PMID:28240269" "PMID:37794183" "DOID:0050628" "ICD10CM:G47.2" @@ -119835,6 +119835,9 @@ "TGEMO:00030" "MGI:2162728" "PMID:24816252" + "UMLS:C1868390" + "OMIM:171480" + "ICD10:Q87.2" "PMID:17174578" "PMID:10651166" "Reaxys:1724426" @@ -119865,9 +119868,6 @@ "PMID:15025780" "DrugBank:DB06151" "PMID:25553484" - "UMLS:C1868390" - "OMIM:171480" - "ICD10:Q87.2" "MESH:C563016" "MEDGEN:107807" "ICD10CM:L73.1" @@ -119921,8 +119921,8 @@ "NCIT:C12338" "EHDAA:9332" "MESH:D014497" - "PMID:28240269" "GAZ:00002747" + "PMID:28240269" "DOID:9835" "NCIt:C87145" "MeSH:D012030" @@ -119930,10 +119930,6 @@ "Orphanet:280400" "MESH:D003331" "Wikipedia:Coronary_circulation" - " CLO:0050628" - "BTO:0002047" - "RRID:CVCL_1989" - "CLO:0002571" "SNOMEDCT:76067001" "MeSH:D012912" "NCIt:C50746" @@ -119950,6 +119946,10 @@ "ICD10CM:G35" "MEDGEN:10123" "NANDO:1200023" + " CLO:0050628" + "BTO:0002047" + "RRID:CVCL_1989" + "CLO:0002571" "PMID:29875488" "OMIMPS:600803" "SNOMEDCT:60392001" @@ -120073,7 +120073,6 @@ "MeSH:D010392" "DOID:9182" "SCTID:65172003" - "ICD10:Q98.8" "NCIt:C25552" "MeSH:D007854" "SNOMEDCT:88488004" @@ -120085,13 +120084,14 @@ "UMLS:C4708599" "GARD:16875" "SCTID:39302008" + "ICD10:Q98.8" "UMLS:C1334576" "NCIT:C5126" "MEDGEN:233659" "DOID:3843" + "PMID:34503513" "FBbt:00001056" "PMID:24954085" - "PMID:34503513" "PMID:21963238" "PMID:35347128" "EHDAA:8171" @@ -120524,15 +120524,6 @@ "BTO:0002025" "CLO:0051569" "RRID:CVCL_1288" - "SCTID:702312009" - "Orphanet:1412" - "UMLS:C1861305" - "ICD9:756.9" - "GARD:9225" - "OMIM:186570" - "MEDGEN:348322" - "icd11.foundation:1118132902" - "DOID:0050789" "PMID:36449553" "HMDB:HMDB0003404" "PMID:36547931" @@ -120554,6 +120545,15 @@ "PMID:34885715" "PMID:36315326" "Pesticides:chitosan" + "SCTID:702312009" + "Orphanet:1412" + "UMLS:C1861305" + "ICD9:756.9" + "GARD:9225" + "OMIM:186570" + "MEDGEN:348322" + "icd11.foundation:1118132902" + "DOID:0050789" "GC_ID:1" "Orphanet:2670" "OMIM:609049" @@ -120775,8 +120775,8 @@ "MEDGEN:1794183" "UMLS:C5561973" "OMIM:619501" - "PMID:23602152" "PMID:37794183" + "PMID:23602152" "MONDO:0009237" "SCTID:6121001" "MeSH:D017573" @@ -121062,8 +121062,8 @@ "CiteXplore:10917400" "CiteXplore:10898926" "ChemIDplus:75272-39-8" - "CiteXplore:9934942" "PMID:9766869" + "CiteXplore:9934942" "PMID:9310388" "PMID:10898926" "Wikipedia:Nemonapride" @@ -121129,9 +121129,13 @@ "UMLS:C0020473" "SCTID:55822004" "ICD10CM:E78.5" - "PMID:24816252" "UMLS:C3839753" "SNOMEDCT_US:700189007" + "SNOMEDCT:14045001" + "NCIt:C48325" + "NCIt:C43851" + "NCIt:C41261" + "SNOMEDCT:413773004" "MONDO:0014776" "GARD:17811" "NCIT:C171269" @@ -121140,11 +121144,7 @@ "OMIM:616795" "MEDGEN:902592" "DOID:0111742" - "SNOMEDCT:14045001" - "NCIt:C48325" - "NCIt:C43851" - "NCIt:C41261" - "SNOMEDCT:413773004" + "PMID:24816252" "icd11.foundation:1619102598" "OMIM:207800" "DOID:9278" @@ -121492,6 +121492,7 @@ "PMID:37794183" "SNOMEDCT:48331004" "NCIt:C86500" + "XAO:0003166" "Wikipedia:Appendicular_skeleton" "MIAA:0000278" "VSAO:0000076" @@ -121504,7 +121505,6 @@ "SCTID:322050006" "MA:0000290" "EMAPA:32729" - "XAO:0003166" "NCIT:C114389" "MONDO:0044014" "ICD10:O90.5" @@ -121693,8 +121693,6 @@ "ICD10:O44" "MONDO:0005918" "MeSH:D010923" - "OMIM:608355" - "ICD10:Q87.2" "ICD9:588.0" "NCIt:C114827" "UMLS:C0035086" @@ -121709,6 +121707,8 @@ "MEDGEN:20524" "SCTID:16726004" "UMLS:C1969879" + "OMIM:608355" + "ICD10:Q87.2" "PMID:34035401" "ICD10:D55.2" "MEDGEN:1386287" @@ -121969,6 +121969,7 @@ "GARD:20243" "SNOMEDCT_US:66657009" "UMLS:C0030591" + "FBbt:00005554" "NCIt:C117219" "MCC:0000380" "BTO:0001061" @@ -121976,7 +121977,6 @@ "CLO:0008395" "https://www.atcc.org/products/all/CRL-1435.aspx" "SNOMEDCT:272976006" - "FBbt:00005554" "FBbt:00004784" "PMID:29875488" "MEDGEN:1843175" @@ -122010,10 +122010,10 @@ "ICD10:Q87.2" "PMID:29875488" "PMID:35995766" - "PMID:25342443" "UMLS:C5562003" "MEDGEN:1794213" "OMIM:619574" + "PMID:25342443" "DOID:5998" "UMLS:C0085750" "NCIt:C3484" @@ -122095,9 +122095,9 @@ "PMID:37794183" "UMLS:C0268576" "SNOMEDCT_US:24013007" - "PMID:35347128" - "FBbt:00001719" "Orphanet:399391" + "FBbt:00001719" + "PMID:35347128" "PMID:23260138" "NCIT:C3157" "MEDGEN:9710" @@ -122136,8 +122136,8 @@ "MA:0002565" "GAID:900" "FMA:59160" - "SCTID:361697005" "EMAPA:35754" + "SCTID:361697005" "MedDRA:10060360" "OMIM:300755" "UMLS:C0221026" @@ -122469,10 +122469,10 @@ "MEDGEN:934710" "Orphanet:497906" "UMLS:C4310743" - "PMID:35995766" "SNOMEDCT_US:16652001" "SNOMEDCT_US:124464003" "UMLS:C0002986" + "PMID:35995766" "UMLS:C0266456" "NCIT:C124517" "SCTID:52330001" @@ -122805,9 +122805,9 @@ "NCIT:C12808" "ZFA:0000600" "VHOG:0000705" + "PMID:33634981" "Orphanet:458798" "OMIM:616410" - "PMID:33634981" "PMID:23823483" "Orphanet:294929" "OMIM:202900" @@ -122876,15 +122876,15 @@ "MEDGEN:685787" "OMIMPS:192500" "SCTID:442917000" + "NCIt:C35448" + "SNOMEDCT:45177002" + "MedDRA:10015967" "Orphanet:1000" "GARD:592" "OMIM:300650" "UMLS:C1845069" "MEDGEN:337149" "SCTID:722054007" - "NCIt:C35448" - "SNOMEDCT:45177002" - "MedDRA:10015967" "MONDO:0005972" "MESH:D011018" "SCTID:233607000" @@ -122897,12 +122897,12 @@ "MEDGEN:57615" "ICD9:482.30" "ICD9:482.39" - "PMID:24816252" "ICD9:397.1" "DOID:5748" "SCTID:18687009" "MEDGEN:510027" "UMLS:C0155579" + "PMID:24816252" "PMID:25607527" "BTO:0005379" "CLO:0037074" @@ -123119,6 +123119,7 @@ "UMLS:C1837352" "Orphanet:238505" "NANDO:2200735" + "PMID:35347128" "NANDO:1200235" "NANDO:2201375" "DOID:4644" @@ -123134,7 +123135,6 @@ "ICD10CM:Q81.0" "NANDO:2201341" "UMLS:C0079298" - "PMID:35347128" "MESH:D007107" "UMLS:C0020962" "NCIT:C12735" @@ -123160,8 +123160,8 @@ "EMAPA:18428" "CALOHA:TS-0018" "FMA:15633" - "AAO:0011010" "NCIT:C12397" + "AAO:0011010" "SCTID:362585001" "MA:0000119" "Wikipedia:Adrenal_medulla" @@ -123289,7 +123289,6 @@ "MedDRA:10017183" "PMID:26068415" "NCIt:C122123" - "UMLS:C0346185" "MEDGEN:83414" "NCIT:C8106" "EFO:1000414" @@ -123298,6 +123297,7 @@ "DOID:5511" "SCTID:254874008" "icd11.foundation:208782658" + "UMLS:C0346185" "MEDGEN:481798" "DOID:0070147" "UMLS:C3280168" @@ -123478,14 +123478,14 @@ "Wikipedia:Antiemetic" "MeSH:D000932" "SNOMEDCT:372764000" - "OMIM:605588" - "MeSH:C537990" - "ICD10:G60.0" - "UMLS:C1854154" "UMLS:C0795895" "OMIM:203550" "MeSH:C537051" "ICD10:Q87.8" + "OMIM:605588" + "MeSH:C537990" + "ICD10:G60.0" + "UMLS:C1854154" "OMIM:605362" "PMID:29875488" "MA:0000773" @@ -123526,9 +123526,9 @@ "MedDRA:10059483" "NCIt:C111649" "PMID:24816252" - "PMID:35347128" "UMLS:C4073241" "PMID:28240269" + "PMID:35347128" "UMLS:C3536893" "NCIT:C27291" "MEDGEN:760735" @@ -123705,8 +123705,8 @@ "NLXANAT:1005006" "EFO:0001978" "BAMS:PERI" - "PBA:128012080" "BTO:0004355" + "PBA:128012080" "Wikipedia:Perirhinal_cortex" "BM:Tel-Cx-PRh" "MBA:922" @@ -124016,16 +124016,16 @@ "UMLS:C1849554" "SCTID:45142002" "GARD:9900" - "UMLS:C4280613" - "SNOMEDCT_US:707598004" - "UMLS:C0024636" - "UMLS:C4280614" - "SNOMEDCT_US:47944004" "ICDO:8450/0" "MEDGEN:41386" "MESH:D018292" "UMLS:C0010636" "NCIT:C2974" + "UMLS:C4280613" + "SNOMEDCT_US:707598004" + "UMLS:C0024636" + "UMLS:C4280614" + "SNOMEDCT_US:47944004" "DOID:13575" "MEDGEN:845321" "ICD9:252.02" @@ -124222,13 +124222,13 @@ "MEDGEN:1786310" "MO:675" "PMID:35347128" + "PMID:29875488" "Orphanet:3341" "MESH:C536970" "GARD:5230" "MEDGEN:326819" "UMLS:C1839129" "OMIM:314300" - "PMID:29875488" "ZFS:0000048" "Wikipedia:Zebrafish" "OMIMPS:600721" @@ -124304,6 +124304,7 @@ "MONDO:0006153" "RRID:CVCL_0400" "CLO:0007445" + "NCIt:C92647" "GARD:17685" "NANDO:2201235" "Orphanet:411634" @@ -124316,7 +124317,6 @@ "MEDGEN:75701" "UMLS:C0268626" "icd11.foundation:422905632" - "NCIt:C92647" "PMID:36168886" "MEDGEN:42278" "UMLS:C0018078" @@ -124402,8 +124402,8 @@ "PMID:35347128" "PMID:35995766" "PMID:35347128" - "RGD:1359002" "PMID:23823483" + "RGD:1359002" "MEDGEN:350942" "OMIM:603622" "DOID:0110548" @@ -124457,11 +124457,11 @@ "NANDO:1200519" "Chemspider:113376658" "LIPID_MAPS_instance:LMGP03020093" + "PMID:29875488" "UMLS:C1332193" "DOID:6018" "MEDGEN:231036" "NCIT:C27401" - "PMID:29875488" "RRID:CVCL_9631" "CLO:0022856" "PO:0004006" @@ -124685,6 +124685,8 @@ "MEDGEN:929763" "Orphanet:64542" "UMLS:C4304094" + "OMIM:614851" + "ICD10:Q87.1" "UMLS:C1864947" "MESH:C566492" "GARD:16695" @@ -124716,8 +124718,6 @@ "MONDO:0021559" "SCTID:61261009" "PMID:29875488" - "OMIM:614851" - "ICD10:Q87.1" "MEDGEN:899946" "OMIM:182250" "UMLS:C4225427" @@ -125024,16 +125024,14 @@ "NCIt:C12474" "PMID:29875488" "Orphanet:422" + "UMLS:C3180937" + "OMIM:615656" + "ICD10:Q93.5" "UMLS:C0265101" "ICD9:433.10" "SCTID:266254007" "MEDGEN:539079" "DOID:807" - "UMLS:C3180937" - "OMIM:615656" - "ICD10:Q93.5" - "PMID: 26629530" - "RRID:CVCL_IS01" "UMLS:C0040435" "SCTID:234947003" "ICD10:K08" @@ -125044,6 +125042,8 @@ "MEDGEN:11852" "DOID:1091" "NCIT:C35077" + "PMID: 26629530" + "RRID:CVCL_IS01" "Orphanet:400018" "OMIM:186580" "OMIM:609464" @@ -125641,8 +125641,8 @@ "MeSH:C536194" "ICD10:Q79.6" "NCIT:C9019" - "UMLS:C0030580" "FMA:59790" + "UMLS:C0030580" "NCIT:C12427" "EFO:0002558" "EV:0100060" @@ -126514,11 +126514,11 @@ "GARD:17253" "PubChem:28115" "CAS:5466678" + "PMID:37794183" "UMLS:C1332954" "DOID:6654" "NCIT:C27405" "MEDGEN:232344" - "PMID:37794183" "KEGG:D08229" "Patent:EP1886997" "DrugBank:DB00471" @@ -126726,8 +126726,8 @@ "PMID:28240269" "RRID:CVCL_1701" "CLO:0009054" - "PMID:29875488" "PMID:29875488" + "PMID:29875488" "ICD10:Q44.7" "OMIM:118450" "MEDGEN:1684767" @@ -126857,12 +126857,12 @@ "UMLS:C1334675" "DOID:6208" "MEDGEN:235314" - "MeSH:D019588" - "MedDRA:10063493" - "UMLS:C0231341" "RRID:CVCL_IR93" "PMID: 26629530" "Orphanet:400022" + "MeSH:D019588" + "MedDRA:10063493" + "UMLS:C0231341" "PMID:35347128" "UMLS:C1836860" "DOID:0111097" @@ -127120,6 +127120,12 @@ "PMID:35347128" "OMIM:222470" "OMIM:614602" + "MeSH:D058497" + "ICD10:Q87.0" + "MedDRA:10080219" + "OMIM:617666" + "OMIM:617667" + "OMIM:219000" "SCTID:440422002" "NCIT:C7149" "MONDO:0005235" @@ -127127,12 +127133,6 @@ "UMLS:C1531608" "EFO:0003073" "DOID:9551" - "MeSH:D058497" - "ICD10:Q87.0" - "MedDRA:10080219" - "OMIM:617666" - "OMIM:617667" - "OMIM:219000" "PMID:33634981" "AAO:0000545" "UMLS:C0035561" @@ -127369,14 +127369,14 @@ "ICD9:562.01" "UMLS:C0267502" "DOID:11223" + "PMID:29875488" "NCIT:C40305" "MEDGEN:384495" "UMLS:C2202743" "DOID:6339" - "PMID:29875488" "PMID:28240269" - "NCIt:C147359" "PMID:32321835" + "NCIt:C147359" "NCIT:C90598" "GARD:2152" "NANDO:2201342" @@ -127799,8 +127799,8 @@ "GAID:319" "NCIT:C12256" "EMAPA:35811" - "BTO:0000198" "Wikipedia:Cardia" + "BTO:0000198" "UMLS:C0007144" "MA:0001609" "MeSH:D005541" @@ -127862,7 +127862,6 @@ "ICD9:171.7" "ICD9:171.3" "MEDGEN:224714" - "ICD9:357.3" "NCIt:C3981" "MESH:D020364" "DOID:8681" @@ -127873,6 +127872,7 @@ "NCIT:C3981" "SCTID:77659000" "MONDO:0006888" + "ICD9:357.3" "PMID:37794183" "NCIT:C26998" "MONDO:0006525" @@ -128339,8 +128339,8 @@ "CAS:102121-60-8" "PDB:3KMR" "PMID:22353356" - "PMID:22258322" "PMID:20453882" + "PMID:22258322" "MeSH:C068073" "CiteXplore:19700416" "CiteXplore:20147703" @@ -128432,12 +128432,12 @@ "PMID:31367044" "MESH:D011387" "NCIt:C22729" + "UMLS:C2931364" + "MeSH:C536898" "MEDGEN:904751" "OMIM:616278" "DOID:0111066" "UMLS:C4225390" - "UMLS:C2931364" - "MeSH:C536898" "PMID:29875488" "DOID:10627" "MEDGEN:509897" @@ -128679,7 +128679,6 @@ "NCIT:C84897" "icd11.foundation:182200345" "PMID:35347128" - "PMID:29875488" "EHDAA:4949" "SCTID:361989001" "UMLS:C1261077" @@ -128687,6 +128686,7 @@ "galen:LowerLobeOfLeftLung" "FMA:7371" "EHDAA2:0000945" + "PMID:29875488" "SNOMEDCT:4166007" "Orphanet:307711" "OMIM:238320" @@ -128762,8 +128762,8 @@ "Orphanet:1318" "SCTID:720599002" "PMID:35347128" - "PMID:29875488" "NCIt:C28038" + "PMID:29875488" "PMID:37794183" "https://en.wikipedia.org/wiki/Clostridium_difficile_infection" "MedDRA:10054236" @@ -129093,10 +129093,10 @@ "MedDRA:10052452" "DOID:0060849" "UMLS:C0432252" - "PMID:35347128" "OMIM:215500" "UMLS:C4551884" "MEDGEN:1639900" + "PMID:35347128" "DOID:0112063" "OMIM:301051" "UMLS:C5435745" @@ -129415,7 +129415,6 @@ "AAO:0010372" "EFO:0003684" "XAO:0003179" - "PMID:29875488" "Reaxys:1727945" "PMID:23989918" "DrugBank:DB01727" @@ -129445,16 +129444,17 @@ "GARD:17175" "MEDGEN:1668791" "icd11.foundation:1982772708" + "PMID:29875488" "Orphanet:3050" - "NCIt:C76204" - "SNOMEDCT:57522007" - "MeSH:D001439" "UMLS:C2168304" "MONDO:0003372" "EFO:1001975" "MEDGEN:378348" "NCIT:C40318" "DOID:5286" + "NCIt:C76204" + "SNOMEDCT:57522007" + "MeSH:D001439" "UMLS:C4020887" "UMLS:C0085636" "SNOMEDCT_US:246622003" @@ -129649,11 +129649,11 @@ "OMIM:615935" "UMLS:C4014737" "PMID:35347128" + "PMID:29875488" "BTO:0003440" "RRID:CVCL_0221" "CLO:0002548" "PMID:37794183" - "PMID:29875488" "OMIM:614870" "OMIM:614866" "OMIM:614859" @@ -129839,6 +129839,9 @@ "MEDGEN:14611" "MONDO:0006889" "NCIT:C34893" + "UMLS:C0022073" + "SNOMEDCT_US:77971008" + "FBbt:00004914" "SCTID:40178009" "UMLS:C0149526" "MEDGEN:508394" @@ -129848,9 +129851,6 @@ "Wikipedia:Urticaria#Allergic_urticaria" "ICD9:708.0" "MedDRA:10001734" - "UMLS:C0022073" - "SNOMEDCT_US:77971008" - "FBbt:00004914" "Orphanet:667" "OMIMPS:259700" "NCIT:C129733" @@ -130117,13 +130117,13 @@ "SCTID:399340005" "MeSH:D009394" "ICD10:Q87.8" + "ATCC:CRL-5876" "MEDGEN:419092" "GARD:4369" "MESH:C537402" "UMLS:C2931485" "Orphanet:3353" "PMID:37253714" - "ATCC:CRL-5876" "ICD10:Q87.2" "OMIMPS:156850" "PMID:29514873" @@ -130176,8 +130176,8 @@ "Orphanet:168829" "OMIM:277610" "ICD10:Q77.7" - "PMID:26458175" "UMLS:C4023007" + "PMID:26458175" "NCIt:C112199" "icd11.foundation:843084384" "ICD9:529.0" @@ -130357,6 +130357,7 @@ "MeSH:C535969" "OMIM:120400" "UMLS:C1852752" + "ICD10:Q87.8" "Orphanet:63446" "GARD:10605" "MESH:C564334" @@ -130372,7 +130373,6 @@ "MEDGEN:234158" "EFO:1000188" "MP:0004016" - "ICD10:Q87.8" "UMLS:C3808991" "MEDGEN:815321" "OMIMPS:615273" @@ -130877,11 +130877,11 @@ "GARD:17078" "Orphanet:178145" "PMID:36168886" + "PMID:24816252" "UMLS:C5543176" "MEDGEN:1782861" "OMIM:619224" "GARD:16438" - "PMID:24816252" "PMID:28775256" "MEDGEN:21801" "DOID:13223" @@ -131479,9 +131479,9 @@ "SNOMEDCT:36012007" "SNOMEDCT:257970008" "WebElements:N" + "OMIMPS:301108" "OMIM:611863" "ICD10:Q15.8" - "OMIMPS:301108" "NCIt:C12803" "MeSH:D014129" "MO:858" @@ -131647,6 +131647,7 @@ "MESH:C538160" "Orphanet:2001" "MEDGEN:444135" + "PMID:36210801" "OMIM:261000" "GARD:3024" "MedDRA:10070440" @@ -131658,12 +131659,11 @@ "DOID:0050734" "UMLS:C1394891" "SCTID:34925000" - "PMID:36210801" "SNOMEDCT:5595000" "MeSH:D012485" + "PMID:37794183" "http://purl.obolibrary.org/obo/NCIT_C103446" "PMID:30929638" - "PMID:37794183" "MEDGEN:462208" "DECIPHER:68" "UMLS:C3150858" @@ -131890,6 +131890,11 @@ "UMLS:C4072834" "SNOMEDCT_US:48610005" "UMLS:C0277959" + "MONDO:0006092" + "UMLS:C1332329" + "NCIT:C5512" + "EFO:1000093" + "MEDGEN:233993" "ICD9:658.0" "MedDRA:10030293" "MESH:D016104" @@ -131912,11 +131917,6 @@ "MEDGEN:57791" "SCTID:371973000" "MESH:D014594" - "MONDO:0006092" - "UMLS:C1332329" - "NCIT:C5512" - "EFO:1000093" - "MEDGEN:233993" "SNOMEDCT:258801007" "NCIt:C64572" "MEDGEN:1375726" @@ -132530,7 +132530,6 @@ "icd11.foundation:1466487054" "UMLS:C0079588" "NANDO:1200625" - "EHDAA:5978" "EHDAA:5035" "EHDAA:5043" "TAO:0005277" @@ -132549,6 +132548,7 @@ "MA:0003148" "EHDAA:5984" "MAT:0000302" + "EHDAA:5978" "MAT:0000279" "BTO:0001078" "FMA:63934" @@ -132987,12 +132987,12 @@ "NCIT:C5061" "UMLS:C1519826" "MEDGEN:275549" + "ZFS:0000008" "OMIM:601885" "OMIM:604307" "OMIM:115700" "ICD10:Q12.0" "OMIM:601547" - "ZFS:0000008" "HMDB:0015436" "MedDRA:10073182" "UMLS:C0431904" @@ -133077,6 +133077,7 @@ "icd11.foundation:1159345506" "UMLS:C0342782" "OMIMPS:603041" + "RRID:CVCL_D357" "UMLS:C0037354" "MESH:D012899" "ICD9:050" @@ -133087,7 +133088,6 @@ "SCTID:67924001" "MEDGEN:20785" "DOID:8736" - "RRID:CVCL_D357" "PMID:28240269" "NORD:1041" "ICD9:520.5" @@ -133127,6 +133127,13 @@ "PMID:29875488" "PMID:33634981" "MO:449" + "NCIT:C4730" + "ICD9:610.8" + "SCTID:450697004" + "MONDO:0006098" + "NCIt:C4730" + "MEDGEN:277968" + "UMLS:C1368920" "NCIT:C34809" "MEDGEN:44313" "SCTID:88348008" @@ -133136,13 +133143,6 @@ "MeSH:D015523" "MedDRA:10056475" "DOID:2051" - "NCIT:C4730" - "ICD9:610.8" - "SCTID:450697004" - "MONDO:0006098" - "NCIt:C4730" - "MEDGEN:277968" - "UMLS:C1368920" "CALOHA:TS-1096" "SCTID:57789003" "UMLS:C0227598" @@ -133322,6 +133322,7 @@ "MEDGEN:1806836" "icd11.foundation:1944845279" "PMID:29875488" + "PMID:35347128" "UMLS:C1333481" "NCIT:C35871" "MEDGEN:272598" @@ -133335,7 +133336,6 @@ "UMLS:C4748357" "DOID:0070382" "OMIM:618143" - "PMID:35347128" "OMIM:606232" "ICD10:Q93.5" "PMID:35347128" @@ -133492,11 +133492,11 @@ "ICD10:E76.2" "OMIM:601492" "ZFA:0001263" - "PMID:24816252" "DOID:8211" "MEDGEN:273292" "UMLS:C1517111" "NCIT:C40114" + "PMID:24816252" "CLO:0001296" " CLO:0001296" "RRID:CVCL_0118" @@ -134274,7 +134274,6 @@ "UMLS:C5561941" "MEDGEN:1794151" "OMIM:619441" - "PMID:28240269" "PMID:8482346" "HMDB:HMDB0000252" "PMID:16341241" @@ -134288,6 +134287,7 @@ "PDBeChem:SQS" "Reaxys:1727294" "LIPID_MAPS_instance:LMSP01010001" + "PMID:28240269" "GARD:3881" "MESH:C564026" "UMLS:C1839028" @@ -134419,7 +134419,6 @@ "UMLS:C1856476" "MEDGEN:341563" "PMID:28240269" - "PMID:29875488" "PMID:24816252" "PMID:28240269" "SCTID:49526009" @@ -134430,6 +134429,7 @@ "MEDGEN:10911" "PMID:24939585" "MESH:D011304" + "PMID:29875488" "SCTID:716248001" "Orphanet:3253" "OMIM:225060" @@ -134502,6 +134502,7 @@ "Orphanet:391411" "GARD:17621" "MEDGEN:1380105" + "PMID:35347128" "NCIT:C53555" "MEDGEN:770986" "DOID:0080674" @@ -134520,8 +134521,11 @@ "EHDAA:6653" "TAO:0000588" "EHDAA2:0002196" - "PMID:35347128" "PMID:33634981" + "MEDGEN:275296" + "DOID:2153" + "UMLS:C1518746" + "NCIT:C40443" "UMLS:C3495490" "icd11.foundation:1948375645" "MEDGEN:501193" @@ -134531,10 +134535,6 @@ "OMIM:102520" "DOID:0060347" "MESH:C563159" - "MEDGEN:275296" - "DOID:2153" - "UMLS:C1518746" - "NCIT:C40443" "GAZ:00004474" "UMLS:C2749007" "GARD:15266" @@ -134552,17 +134552,17 @@ "ICD10:E05.8" "ICD10:E05.4" "PMID:29875488" + "NCIt:C79663" + "MeSH:D027343" + "MAT:0000219" + "PO:0004542" + "BTO:0001181" "UMLS:C2827356" "NCIT:C84270" "MEDGEN:417664" "DOID:0080164" "Orphanet:168943" "GARD:20105" - "NCIt:C79663" - "MeSH:D027343" - "MAT:0000219" - "PO:0004542" - "BTO:0001181" "NANDO:2200774" "ICD9:086.9" "UMLS:C0041227" @@ -134662,6 +134662,7 @@ "OMIM:261680" "ICD10:E74.4" "PMID:37794183" + "NCIt:C120650" "OMIM:616281" "DOID:0070542" "NORD:91168" @@ -134669,7 +134670,6 @@ "UMLS:C4225388" "GARD:17853" "Orphanet:477673" - "NCIt:C120650" "PMID:37794183" "PMID:20601959" "PMID:37794183" @@ -135441,9 +135441,9 @@ "OMIM:616004" "HMDB:HMDB0008006" "LIPID_MAPS_instance:LMGP01010690" - "PMID:31530798" "PMID:37794183" "SNOMEDCT:4983002" + "PMID:31530798" "Wikipedia:Virchow-Robin_space" "NCIT:C83196" "UMLS:C0225983" @@ -136300,15 +136300,6 @@ "PMID:27528800" "Wikipedia:Tafenoquine" "PMID:23503052" - "DOID:8535" - "MedDRA:10030865" - "MESH:D006563" - "SCTID:87513003" - "MONDO:0005883" - "MeSH:D006563" - "UMLS:C0019364" - "MEDGEN:9236" - "ICD9:053.29" "NCIT:C45716" "Wikipedia:NUT_midline_carcinoma" "UMLS:CN237663" @@ -136321,6 +136312,15 @@ "ICD10:C80.9" "MEDGEN:312999" "MONDO:0005563" + "DOID:8535" + "MedDRA:10030865" + "MESH:D006563" + "SCTID:87513003" + "MONDO:0005883" + "MeSH:D006563" + "UMLS:C0019364" + "MEDGEN:9236" + "ICD9:053.29" "GARD:18266" "DOID:0111204" "OMIM:600794" @@ -136455,6 +136455,9 @@ "OMIM:619189" "MEDGEN:1788485" "UMLS:C5543068" + "BTO:0001884" + "CLO:0007735" + "RRID:CVCL_0436" "MESH:C536122" "Orphanet:215" "SCTID:193687000" @@ -136475,9 +136478,6 @@ "MeSH:D001117" "SCTID:3303004" "MONDO:0005650" - "BTO:0001884" - "CLO:0007735" - "RRID:CVCL_0436" "PMID:33634981" "PMID:28738859" "UMLS:C4310656" @@ -136721,8 +136721,8 @@ "MEDGEN:43932" "SNOMEDCT_US:128473001" "UMLS:C0042164" - "PMID:29875488" "PMID:37794183" + "PMID:29875488" "PMID:37794183" "UMLS:C5676886" "MEDGEN:1812534" @@ -137627,8 +137627,8 @@ "OMIM:612576" "MEDGEN:390813" "MESH:C567245" - "PMID:37794183" "NCIt:C147365" + "PMID:37794183" "UMLS:C4021664" "OMIM:614809" "MedDRA:10083794" @@ -137658,11 +137658,6 @@ "NCIt:C84633" "UMLS:C0008489" "PMID:28240269" - "MEDGEN:412163" - "GARD:21742" - "Orphanet:418951" - "UMLS:C2188058" - "NCIT:C27422" "MeSH:D002305" "ICD9:423.3" "MONDO:0001297" @@ -137678,6 +137673,11 @@ "ICD10CM:I31.4" "ICD10:I31.4" "MedDRA:10007610" + "MEDGEN:412163" + "GARD:21742" + "Orphanet:418951" + "UMLS:C2188058" + "NCIT:C27422" "NCIT:C2976" "SCTID:190681003" "GARD:6236" @@ -138089,10 +138089,10 @@ "ICDO:9596/3" "DOID:5820" "MESH:D058617" + "MedDRA:10083870" "SNOMEDCT_US:90708001" "UMLS:C0022658" "UMLS:C1408258" - "MedDRA:10083870" "PMID:29875488" "FMA:14582" "galen:WallOfStomach" @@ -138355,11 +138355,11 @@ "OMIM:617044" "GARD:17894" "PMID:35347128" + "PMID:23823483" "OMIM:620439" "Orphanet:652487" "MEDGEN:1841248" "UMLS:C5830612" - "PMID:23823483" "OMIM:614371" "UMLS:C3280582" "MEDGEN:482212" @@ -138551,8 +138551,8 @@ "SCTID:368009" "MedDRA:10061406" "MEDGEN:5463" - "ICD10:I08" "ICD9:424.99" + "ICD10:I08" "DOID:4079" "MeSH:D006349" "icd11.foundation:1604214898" @@ -138629,7 +138629,6 @@ "NCIT:C3264" "MEDGEN:45034" "SNOMEDCT:86228006" - "PMID:36006120" "NCIT:C4073" "MEDGEN:90148" "UMLS:C0302327" @@ -138667,6 +138666,7 @@ "EMAPA:17602" "PMID:37794183" "NCIt:C35869" + "PMID:36006120" "PMID:34814699" "PMID:31530798" "UMLS:C5679984" @@ -138933,6 +138933,10 @@ "ICD9:528.8" "ICD10:K13.5" "EFO:1001818" + "UMLS:C0878684" + "OMIM:269880" + "MeSH:C537327" + "ICD10:Q87.1" "UMLS:C1856095" "Orphanet:2167" "GARD:2728" @@ -138940,10 +138944,6 @@ "MESH:C535327" "OMIM:236110" "DOID:0060566" - "UMLS:C0878684" - "OMIM:269880" - "MeSH:C537327" - "ICD10:Q87.1" "DOID:0110196" "Orphanet:99953" "MEDGEN:343122" @@ -139306,12 +139306,12 @@ "UMLS:C0948039" "PMID:28240269" "PMID:33430853" - "PMID:30659259" "ICD10:D30" "MedDRA:10046702" "MeSH:D014565" "ICD10:D41" "ICD10:D07" + "PMID:30659259" "PMID:24816252" "PMID:28240269" "MESH:C566192" @@ -139462,11 +139462,11 @@ "PMID:30053915" "PMID:28204635" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03175&Product=CC" - "ICD10:E77.8" - "OMIM:212065" "UMLS:C0855323" "PMID:34982741" "PMID:29875488" + "ICD10:E77.8" + "OMIM:212065" "PMID:23823483" "IDOMAL:0000321" "OMIM:608768" @@ -140068,6 +140068,13 @@ "OMIM:618929" "MEDGEN:1718475" "UMLS:C5394523" + "MEDGEN:102372" + "UMLS:C0162291" + "DOID:12510" + "ICD9:362.84" + "SCTID:26468004" + "ICD10CM:H35.82" + "PMID:28240269" "MESH:D010899" "Orphanet:95613" "SNOMEDCT:237701005" @@ -140083,14 +140090,6 @@ "UMLS:C0032001" "icd11.foundation:1938573221" "NCIt:C26853" - "MEDGEN:102372" - "UMLS:C0162291" - "DOID:12510" - "ICD9:362.84" - "SCTID:26468004" - "ICD10CM:H35.82" - "PMID:28240269" - "PMID:30659259" "UMLS:C0041178" "CALOHA:TS-1070" "Wikipedia:Trophoblast" @@ -140101,6 +140100,7 @@ "NCIT:C93292" "BTO:0001079" "EV:0100120" + "PMID:30659259" "PMID:37794183" "GARD:7883" "NORD:1844" @@ -140150,6 +140150,7 @@ "SCTID:361370006" "UMLS:C0448188" "EFO:0003842" + "PMID:29875488" "MEDGEN:68625" "MeSH:D006551" "Orphanet:2140" @@ -140175,7 +140176,6 @@ "UMLS:C1567435" "UMLS:C0022680" "ZFA:0005093" - "PMID:29875488" "PMID:28928442" "RRID:CVCL_8136" "PMID:29875488" @@ -140199,9 +140199,8 @@ "OMIM:608804" "DOID:0060787" "MEDGEN:325157" - "PMID:36006120" "PMID:37794183" - "Wikipedia:Body_water" + "PMID:36006120" "ICD10:S12" "ICD10:T08" "MESH:D016103" @@ -140211,6 +140210,7 @@ "SCTID:50448004" "MONDO:0005309" "MedDRA:10041569" + "Wikipedia:Body_water" "Orphanet:466722" "MEDGEN:1800430" "UMLS:C5569007" @@ -140572,6 +140572,7 @@ "NCIT:C98902" "MEDGEN:87489" "SCTID:83799000" + "OMIM:600002" "icd11.foundation:1695088249" "MEDGEN:929430" "SCTID:720950009" @@ -140583,7 +140584,6 @@ "SNOMEDCT:258682000" "NCIt:C48155" "PMID:37794183" - "OMIM:600002" "LIPID_MAPS_instance:LMSP03010001" "Reaxys:3641774" "HMDB:HMDB0001348" @@ -140651,6 +140651,7 @@ "PMID:29875488" "SNOMEDCT_US:80825009" "UMLS:C0265783" + "ICD10:N04.3" "DOID:11285" "SCTID:74225001" "MedDRA:10077336" @@ -140669,7 +140670,6 @@ "PMID:24186868" "KEGG:C00338" "PMID:24506665" - "ICD10:N04.3" "DOID:217" "ICD9:521.01" "MEDGEN:540214" @@ -140948,13 +140948,13 @@ "GARD:19325" "Orphanet:96126" "MEDGEN:1683031" - "SNOMEDCT:260782005" "UMLS:C0279651" "NCIT:C9166" "EFO:1000262" "DOID:3500" "MEDGEN:76009" "MONDO:0006215" + "SNOMEDCT:260782005" "SNOMEDCT:13182002" "CALOHA:TS-2341" "FMA:18252" @@ -140972,12 +140972,12 @@ "MEDGEN:272370" "NCIT:C6179" "DOID:5306" - "OMIM:617882" "NANDO:2200197" "MEDGEN:358271" "NANDO:2100031" "OMIM:600807" "UMLS:C1869116" + "OMIM:617882" "EFO:1000548" "SCTID:93527005" "MONDO:0006429" @@ -141141,11 +141141,6 @@ "UMLS:C2930954" "PMID:35347128" "PMID:35347128" - "UMLS:C4014557" - "OMIM:615883" - "GARD:16026" - "DOID:0080686" - "MEDGEN:862994" "UMLS:C0003864" "MONDO:0005578" "DOID:848" @@ -141159,6 +141154,11 @@ "NCIt:C2883" "Wikipedia:Arthritis" "MeSH:D001168" + "UMLS:C4014557" + "OMIM:615883" + "GARD:16026" + "DOID:0080686" + "MEDGEN:862994" "PMID:29875488" "PMID:2474544" "NCIT:C27682" @@ -141654,10 +141654,10 @@ "UMLS:C3694279" "GARD:22321" "DOID:0080642" + "OMIM:251880" "PMID:29875488" "PMID:35347128" "PMID:31367044" - "OMIM:251880" "PMID:29875488" "Orphanet:1068" "MEDGEN:419752" @@ -141733,13 +141733,13 @@ "MEDGEN:98047" "SCTID:240063002" "NCIT:C126691" + "PMID:29875488" "PMID:31530798" "MEDGEN:349821" "icd11.foundation:1224987332" "UMLS:C1860446" "GARD:21218" "Orphanet:295203" - "PMID:29875488" "UMLS:C0334540" "ICDO:9142/0" "DOID:470" @@ -142287,9 +142287,9 @@ "BTO:0005964" "PMID:29875488" "ZFA:0005168" - "SCTID:272023004" "NCIT:C32281" "FMA:17544" + "SCTID:272023004" "Wikipedia:Central_veins_of_liver" "TAO:0005168" "PMID:37794183" @@ -143132,9 +143132,9 @@ "EFO:1000263" "PMID:35347128" "PMID:37794183" - "PMID:37794183" "LIPID_MAPS_instance:LMGP01010496" "HMDB:HMDB0007874" + "PMID:37794183" "PMID:37794183" "MmusDv:0000002" "PMID:35050183" @@ -143271,6 +143271,8 @@ "FMA:61884" "MBA:351" "EFO:0001971" + "UMLS:C4021591" + "UMLS:C1861621" "SCTID:126583006" "MeSH:D005266" "MONDO:0003505" @@ -143278,8 +143280,6 @@ "DOID:5546" "UMLS:C2362822" "MEDGEN:1843484" - "UMLS:C4021591" - "UMLS:C1861621" "MeSH:D009069" "SCTID:60342002" "NCIT:C116757" @@ -143581,9 +143581,9 @@ "EFO:0002424" "DOID:0050871" "MEDGEN:42016" + "PMID:35347128" "NCIt:C17634" "SNOMEDCT:63476009" - "PMID:35347128" "PMID:29875488" "PMID:28679651" "SNOMEDCT:34886002" @@ -143713,7 +143713,6 @@ "MEDGEN:268571" "PMID:29875488" "PMID:29875488" - "PMID:35347128" "Reaxys:7641807" "LIPID_MAPS_instance:LMFA08040010" "MEDGEN:930195" @@ -143721,6 +143720,7 @@ "Orphanet:228415" "SCTID:719665003" "GARD:20595" + "PMID:35347128" "icd11.foundation:1010745722" "Orphanet:97360" "NORD:1673" @@ -144331,8 +144331,8 @@ "UMLS:C0279751" "NCIT:C8026" "PMID:35347128" - "PMID:28240269" "PMID:24816252" + "PMID:28240269" "UMLS:C4025279" "UMLS:C0935626" "AEO:0000094" @@ -144403,8 +144403,8 @@ "KEGG:D07690" "OMIM:192200" "MEDGEN:21827" - "SCTID:128060009" "MESH:D014648" + "SCTID:128060009" "ICD9:454.9" "ICD9:456.8" "NCIT:C35114" @@ -144572,10 +144572,10 @@ "NANDO:2200501" "Orphanet:25" "DOID:0111254" + "PMID:29875488" "UMLS:C1839783" "UMLS:C4280583" "UMLS:C4280584" - "PMID:29875488" "KEGG COMPOUND:C00666" "HMDB:0001370" "OMIM:612292" @@ -144728,10 +144728,10 @@ "MEDGEN:21550" "NCIT:C129724" "MeSH:D013969" - "ICD10:Q92.3" "OMIM:617695" "ICD10:Q04.3" "OMIM:618266" + "ICD10:Q92.3" "OMIM:614527" "ICD10:Q93.5" "OMIM:613444" @@ -144923,9 +144923,9 @@ "PMID:3466682" "RRID:CVCL_Y019" "MeSH:D055118" - "PMID:29207912" "OMIM:170390" "ICD10:G72.3" + "PMID:29207912" "SCTID:723440000" "OMIM:300539" "DOID:0112121" @@ -145108,6 +145108,10 @@ "SAEL:120" "MAT:0000129" "OBI:1110046" + "OMIM:619248" + "MEDGEN:343940" + "UMLS:C1852989" + "ZFA:0005077" "UMLS:C0376670" "MESH:D019512" "SCTID:445507008" @@ -145116,10 +145120,6 @@ "MEDGEN:84027" "MeSH:D019512" "MONDO:0003232" - "OMIM:619248" - "MEDGEN:343940" - "UMLS:C1852989" - "ZFA:0005077" "PMID:28235828" "PMID:28240269" "MESH:D058249" @@ -145369,7 +145369,6 @@ "MESH:C537849" "GARD:7224" "NORD:1514" - "PMID:30659259" "NCIT:C7488" "EFO:0003866" "SCTID:126675008" @@ -145378,6 +145377,7 @@ "MEDGEN:18296" "UMLS:C0030470" "MONDO:0005289" + "PMID:30659259" "PMID:24816252" "MEDGEN:1648487" "OMIM:618090" @@ -145399,14 +145399,14 @@ "MEDGEN:1826053" "UMLS:C5679787" "Orphanet:207085" - " CLO:0050508" - "BTO:0000298" - "CLO:0002597" - "RRID:CVCL_0224" "UMLS:C0343108" "ICD10:Q87.8" "MeSH:C537066" "OMIM:136300" + " CLO:0050508" + "BTO:0000298" + "CLO:0002597" + "RRID:CVCL_0224" "ICD10:A87" "NCIT:C118298" "ICD9:047.9" @@ -146181,9 +146181,9 @@ "GARD:19184" "Orphanet:93400" "MEDGEN:1843300" + "PMID:28240269" "OMIM:611228" "ICD10:G60.0" - "PMID:28240269" "GARD:1503" "UMLS:C0345375" "SCTID:93255008" @@ -146369,6 +146369,8 @@ "UMLS:C0262404" "ICD9:331.9" "SCTID:418143002" + "SNOMEDCT_US:301348000" + "UMLS:C0578038" "MEDGEN:18211" "ICD9:731.2" "SCTID:203357004" @@ -146378,8 +146380,6 @@ "UMLS:C0029412" "icd11.foundation:1325516156" "MESH:D010005" - "SNOMEDCT_US:301348000" - "UMLS:C0578038" "SCTID:235073000" "UMLS:C0341024" "GARD:15617" @@ -147062,8 +147062,8 @@ "MA:0000268" "EHDAA:9037" "UMLS:C0015426" - "SCTID:265782007" "EV:0100338" + "SCTID:265782007" "UMLS:C4020870" "NANDO:1200589" "MEDGEN:140741" @@ -147156,6 +147156,8 @@ "DOID:0110913" "Orphanet:247676" "OMIM:146300" + "UMLS:C0268517" + "ICD10:E72.8" "Orphanet:2169" "DOID:0112255" "NANDO:2201109" @@ -147168,8 +147170,6 @@ "NCIT:C142173" "PMID:7528862" "RRID:CVCL_4802" - "UMLS:C0268517" - "ICD10:E72.8" "MESH:C566908" "NCIT:C148461" "UMLS:C4305153" @@ -147343,13 +147343,13 @@ "SNOMEDCT:258673006" "NCIt:C28251" "MO:648" - "SCTID:176770005" - "ZFA:0009260" - "FMA:68653" "UMLS:C1846056" "OMIM:300262" "MeSH:C535556" "ICD10:Q87.8" + "SCTID:176770005" + "ZFA:0009260" + "FMA:68653" "SAEL:36" "MA:0000397" "FMA:18255" @@ -147470,6 +147470,7 @@ "MA:0001809" "EMAPA:37584" "MA:0001810" + "PMID:33634981" "UMLS:C5203410" "Orphanet:221016" "GARD:17135" @@ -147477,7 +147478,6 @@ "OMIM:268400" "NCIT:C178827" "MEDGEN:1684753" - "PMID:33634981" "PMID:25147954" "UMLS:C1306663" "MEDGEN:727129" @@ -147500,8 +147500,8 @@ "NANDO:1200860" "GARD:12603" "DOID:0080300" - "PMID:37794183" "PMID:26785701" + "PMID:37794183" "DOID:2834" "ICD9:289.0" "NCIT:C27178" @@ -147798,6 +147798,7 @@ "MedDRA:10083936" "UMLS:C0398738" "ICD10:D84.8" + "PMID:36168886" "GARD:17908" "DOID:2876" "NCIT:C4044" @@ -147812,7 +147813,6 @@ "GARD:18526" "UMLS:C5436525" "OMIM:618974" - "PMID:36168886" "UMLS:C1300585" "DOID:7141" "MONDO:0006390" @@ -147863,6 +147863,7 @@ "MESH:C537303" "icd11.foundation:1959052636" "DOID:0060834" + "UMLS:C3275899" "MEDGEN:340315" "SCTID:724000006" "Orphanet:3087" @@ -147870,7 +147871,6 @@ "GARD:4685" "MESH:C564839" "UMLS:C1849399" - "UMLS:C3275899" "MetaCyc:CPD-13390" "HMDB:HMDB0028966" "Reaxys:2261118" @@ -147951,7 +147951,6 @@ "LINCS:LSM-1755" "CAS:149649-22-9" "ChEMBL:134432" - "PMID:28240269" "GARD:1567" "NCIT:C131429" "MEDGEN:96080" @@ -147964,6 +147963,7 @@ "NANDO:2201368" "Orphanet:1513" "OMIM:218300" + "PMID:28240269" "PMID:37794183" "PMID:29403010" "SCTID:724090001" @@ -148117,7 +148117,6 @@ "PMID:37794183" "PMID:33204752" "PMID:23823483" - "PMID:23823483" "PMID:25092597" "Reaxys:3629989" "KNApSAcK:C00000185" @@ -148129,6 +148128,7 @@ "CAS:87734-68-7" "PMID:25700090" "HMDB:HMDB0034423" + "PMID:23823483" "NCIt:C12314" "BTO:0000907" "MedDRA:10066435" @@ -148166,11 +148166,6 @@ "GARD:8529" "MESH:C537720" "HP:0100746" - "NCIt:C50564" - "ICD10:P20" - "MeSH:D005311" - "SNOMEDCT:276638004" - "Wikipedia:Intrauterine_hypoxia" "UMLS:C0399526" "OMIM:176700" "Orphanet:2964" @@ -148182,6 +148177,11 @@ "MEDGEN:462643" "UMLS:C3151293" "OMIM:613881" + "NCIt:C50564" + "ICD10:P20" + "MeSH:D005311" + "SNOMEDCT:276638004" + "Wikipedia:Intrauterine_hypoxia" "SCTID:29212009" "MEDGEN:68632" "UMLS:C0236664" @@ -148505,17 +148505,17 @@ "ONCOTREE:SDCA" "MEDGEN:220969" "PMID:36168886" - "ICD10:D81.2" - "PMID:24248345" - "PMID:30586455" "GARD:17313" "DOID:0080060" "MEDGEN:482082" "UMLS:C3280452" "OMIM:614322" "Orphanet:284282" + "ICD10:D81.2" "SNOMEDCT:25510005" "MeSH:D006350" + "PMID:24248345" + "PMID:30586455" "DOID:0110185" "OMIM:214400" "UMLS:C1859198" @@ -148718,8 +148718,8 @@ "MEDGEN:10592" "ICD9:332.1" "MeSH:D010302" - "UMLS:C0030569" "ICD10:G21" + "UMLS:C0030569" "DOID:13548" "MESH:D010302" "MONDO:0006966" @@ -148878,13 +148878,13 @@ "UMLS:C1864695" "MEDGEN:400593" "GARD:12447" - "PMID:23823483" "Beilstein:8331263" "MeSH:C087876" "NCIt:C68370" "KEGG:C18727" "CAS:120928-09-8" "PPDB:292" + "PMID:23823483" "PMID:37794183" "PMID:37794183" "DOID:2598" @@ -149008,12 +149008,12 @@ "MEDGEN:483335" "Orphanet:300525" "UMLS:C3469605" - "ZFA:0000948" - "PMID:19962984" "UMLS:C0342712" "ICD10:E71.2" "ICD10:E71.1" "ICD10:E71.0" + "ZFA:0000948" + "PMID:19962984" "PMID:35347128" "PMID:35668104" "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03521&Product=CC" @@ -149104,12 +149104,12 @@ "ICD10:Q93.5" "OMIM:613443" "PMID:29875488" + "PMID:35347128" "DOID:0110312" "OMIM:600858" "MEDGEN:331466" "MESH:C563436" "UMLS:C1833236" - "PMID:35347128" "RRID:CVCL_3744" "BTO:0002544" "UMLS:C0154856" @@ -149475,6 +149475,9 @@ "UMLS:C3272399" "MEDGEN:474032" "ONCOTREE:SWDNET" + "UMLS:C0432261" + "OMIM:611497" + "ICD10:Q78.2" "DECIPHER:17" "MESH:D058495" "NANDO:2200953" @@ -149492,9 +149495,6 @@ "NCIT:C75019" "NORD:1727" "GARD:10091" - "UMLS:C0432261" - "OMIM:611497" - "ICD10:Q78.2" "MONDO:0003155" "UMLS:C0018920" "ICDO:9121/0" @@ -149636,15 +149636,15 @@ "MedDRA:10025873" "MedDRA:10061238" "MeSH:D003390" - "MEDGEN:1849971" - "UMLS:C5848070" - "NCIT:C3337" "UMLS:C0268517" "GARD:18970" "icd11.foundation:34853044" "Orphanet:79196" "MEDGEN:541345" "SCTID:9128006" + "MEDGEN:1849971" + "UMLS:C5848070" + "NCIT:C3337" "PMID:23876538" "PMID:19201992" "PMID:16778086" @@ -149803,7 +149803,6 @@ "Orphanet:238455" "NCIt:C72030" "MeSH:D028463" - "OMIM:601351" "ICD10:C67.8" "ICD10:C67.6" "GARD:11923" @@ -149825,6 +149824,7 @@ "ICD10:C67.1" "ONCOTREE:SCBC" "Orphanet:284400" + "OMIM:601351" "MEDGEN:1825987" "UMLS:C5681538" "GARD:19349" @@ -149844,8 +149844,6 @@ "ONCOTREE:INTS" "MEDGEN:317791" "NCIT:C53677" - "OMIM:615625" - "ICD10:G11.4" "SCTID:718559000" "OMIM:602875" "Orphanet:40" @@ -149854,11 +149852,8 @@ "MEDGEN:355199" "UMLS:C1864356" "GARD:507" - "OMIM:615771" - "OMIM:615763" - "OMIM:615412" - "OMIM:615411" - "OMIM:615282" + "OMIM:615625" + "ICD10:G11.4" "SNOMEDCT:65863008" "ZFA:0009090" "NIFSTD:sao1231384859" @@ -149868,6 +149863,11 @@ "MAT:0000159" "CL:0000147" "MFO:0003360" + "OMIM:615771" + "OMIM:615763" + "OMIM:615412" + "OMIM:615411" + "OMIM:615282" "PMID:7678184" "MONDO:0005490" "DrugBank:DB01345" @@ -150009,15 +150009,6 @@ "ONCOTREE:COAD" "DOID:234" "Wikipedia:Plasmopara_viticola" - "PMID:29875488" - "MESH:D020751" - "MEDGEN:65935" - "SCTID:719848005" - "UMLS:C0236970" - "OMIM:615226" - "GARD:18176" - "UMLS:C3808889" - "MEDGEN:815219" "ICD10:E75.2" "MeSH:D052517" "UMLS:C1720864" @@ -150027,6 +150018,15 @@ "DOID:50441" "SNOMEDCT:54898003" "NCIt:C84908" + "PMID:29875488" + "MESH:D020751" + "MEDGEN:65935" + "SCTID:719848005" + "UMLS:C0236970" + "OMIM:615226" + "GARD:18176" + "UMLS:C3808889" + "MEDGEN:815219" "NCIT:C12691" "SCTID:181308008" "UMLS:C0007770" @@ -150220,8 +150220,8 @@ "UMLS:C2751260" "PMID:37253714" "PMID:29875488" - "SNOMEDCT:243656002" "PMID:29628937" + "SNOMEDCT:243656002" "OMIM:610100" "ICD10:G60.0" "PMID:29875488" @@ -150610,9 +150610,9 @@ "ICD9:588.89" "DOID:14219" "PMID:24816252" - "PMID:29875488" "MedDRA:10037701" "NCIt:C83501" + "PMID:29875488" "Orphanet:98655" "PMID:38565889" "SCTID:274096000" @@ -150850,11 +150850,11 @@ "UMLS:C0036996" "MO:890" "PMID:29875488" + "PMID:37794183" "UMLS:C1335994" "DOID:6880" "MEDGEN:234788" "NCIT:C5336" - "PMID:37794183" "PMID:37794183" "PMID:23924614" "PMID:37794183" @@ -150991,10 +150991,10 @@ "ZFA:0000949" "PMID:35347128" "PMID:35668104" + "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03558&Product=CC" "SNOMEDCT:24028007" "NCIt:C25228" "MAT:0000492" - "https://www.coriell.org/0/Sections/Search/Sample_Detail.aspx?Ref=HG03558&Product=CC" "MESH:D009140" "ICD10:M53" "ICD9:729.99" @@ -151142,9 +151142,9 @@ "GARD:19155" "MONDO:0019607" "NANDO:2201061" - "PMID:37794183" "SNOMEDCT_US:51406002" "UMLS:C0241703" + "PMID:37794183" "CAS:6418-92-4" "Reaxys:1727736" "KEGG:C03274" @@ -151310,13 +151310,13 @@ "BTO:0000232" "DHBA:10656" "TAO:0000100" - "ICD10:Q82.8" - "OMIM:618625" "Orphanet:276223" "UMLS:C5679780" "MEDGEN:1842694" "SCTID:67854007" "GARD:21047" + "ICD10:Q82.8" + "OMIM:618625" "KEGG COMPOUND:C00955" "HMDB:0003447" "SCTID:428054006" @@ -151384,11 +151384,11 @@ "MONDO:0021223" "MESH:D005770" "NCIT:C3052" + "ICD10:Q87.8" "SNOMEDCT:48694002" "MeSH:D001007" "MedDRA:10002855" "NCIt:C26696" - "ICD10:Q87.8" "PMID:28240269" "GARD:19089" "UMLS:C4303588" @@ -151444,13 +151444,13 @@ "PMID:29875488" "PMID:27526324" "PMID:28240269" + "PMID:34814699" "Orphanet:199302" "GARD:17091" "icd11.foundation:172183323" "MedDRA:10009259" "MEDGEN:40327" "UMLS:C0008924" - "PMID:34814699" "DOID:14499" "NORD:1115" "Orphanet:324" @@ -151577,11 +151577,11 @@ "MESH:C567034" "UMLS:C1970269" "icd11.foundation:809856670" - "PMID:29875488" "OMIMPS:203655" "SNOMEDCT:112113009" "NCIt:C2289" "MeSH:D012739" + "PMID:29875488" "ICD10:R19" "ICD10:Q45" "BTO:0001547" @@ -151790,12 +151790,12 @@ "ICD10:Q87.8" "UMLS:C1859082" "OMIM:215850" + "PMID:24816252" "PMID:37794183" "MEDGEN:102260" "NCIT:C116812" "SCTID:70572005" "UMLS:C0153252" - "PMID:24816252" "GARD:19556" "MedDRA:10061080" "Orphanet:98724" @@ -152235,6 +152235,12 @@ "UMLS:C0346902" "DOID:6098" "icd11.foundation:610018988" + "NCIT:C4800" + "MedDRA:10057407" + "MEDGEN:101180" + "UMLS:C0524801" + "NCIt:C4800" + "MONDO:0021231" "PMID:24816252" "DOID:0060430" "GARD:12388" @@ -152246,12 +152252,6 @@ "BTO:0003261" "RRID:CVCL_3283" "CLO:0003663" - "NCIT:C4800" - "MedDRA:10057407" - "MEDGEN:101180" - "UMLS:C0524801" - "NCIt:C4800" - "MONDO:0021231" "ICD10:G10" "MeSH:D006816" "OMIM:143100" @@ -152354,13 +152354,6 @@ "MEDGEN:1843487" "DOID:0080010" "UMLS:C0477681" - "MedDRA:10071161" - "NCIt:C4847" - "SCTID:308870004" - "UMLS:C1302363" - "NCIT:C4847" - "MONDO:0006151" - "MEDGEN:224903" "MESH:C537987" "DOID:0110149" "OMIM:607734" @@ -152370,6 +152363,13 @@ "icd11.foundation:1160290076" "MEDGEN:334337" "Orphanet:101085" + "MedDRA:10071161" + "NCIt:C4847" + "SCTID:308870004" + "UMLS:C1302363" + "NCIT:C4847" + "MONDO:0006151" + "MEDGEN:224903" "PMID:35347128" "PMID:30366209" "LIPID_MAPS_instance:LMGP02050011" @@ -152715,8 +152715,8 @@ "DOID:0050592" "Orphanet:474" "SCTID:75049004" - "ICD10:G31.8" "PMID:35347128" + "ICD10:G31.8" "OMIM:609254" "OMIM:266900" "OMIM:606996" @@ -152730,13 +152730,13 @@ "OMIM:616629" "MedDRA:10084074" "PMID:29875488" + "UMLS:C4025875" "DOID:0111478" "MEDGEN:863097" "Orphanet:420728" "UMLS:C4014660" "GARD:17699" "OMIM:615917" - "UMLS:C4025875" "GARD:17125" "UMLS:C2751090" "MEDGEN:416465" @@ -152898,10 +152898,6 @@ "Orphanet:1506" "GARD:18727" "PMID:29875488" - "UMLS:C2064434" - "NCIT:C5860" - "DOID:3254" - "MEDGEN:473530" "MedDRA:10064963" "OMIM:608328" "ICD10:Q87.0" @@ -152909,6 +152905,10 @@ "UMLS:C0265313" "MeSH:D056846" "OMIM:277600" + "UMLS:C2064434" + "NCIT:C5860" + "DOID:3254" + "MEDGEN:473530" "Patent:BE872585" "CiteXplore:21969105" "PMID:22059694" @@ -153214,9 +153214,9 @@ "PMID:37794183" "NCIt:C51812" "UMLS:C0311237" - "Wikipedia:Spindle_apparatus" "OMIM:616280" "ICD10:G60.0" + "Wikipedia:Spindle_apparatus" "Beilstein:3536580" "PDBeChem:IMD" "Gmelin:122674" @@ -153238,6 +153238,7 @@ "SNOMEDCT_US:7973008" "Orphanet:276234" "SNOMEDCT:433579005" + "UMLS:C0015027" "NCIT:C12711" "Wikipedia:Ethmoid_bone" "VHOG:0001317" @@ -153248,7 +153249,6 @@ "BTO:0004140" "MA:0001483" "GAID:212" - "UMLS:C0015027" "UMLS:C5575558" "MEDGEN:1826002" "GARD:17437" @@ -153262,7 +153262,6 @@ "CAS:80-68-2" "PMID:11379295" "PMID:37794183" - "PMID:29875488" "UMLS:C4024727" "MIAA:0000140" "GAID:69" @@ -153280,6 +153279,7 @@ "UMLS:C1835492" "GARD:18245" "OMIM:150400" + "PMID:29875488" "PMID:35013273" "Orphanet:178364" "OMIM:610125" @@ -153359,9 +153359,9 @@ "CLO:0037289" "RRID:CVCL_0098" "PMID:33634981" - "UMLS:C1136042" "NCIt:C116314" "MedDRA:10038678" + "UMLS:C1136042" "MEDGEN:1809728" "UMLS:C5676997" "OMIM:619903" @@ -153838,8 +153838,8 @@ "icd11.foundation:1639000446" "DOID:0111987" "GARD:12375" - "MO:726" "PMID:31832568" + "MO:726" "PMID:26087016" "UMLS:C5561927" "MEDGEN:1794137" @@ -153917,6 +153917,7 @@ "ZFA:0000822" "PubChem:496" "KEGG COMPOUND:C01029" + "NCIt:C39945" "UMLS:C4746631" "GARD:3324" "MedDRA:10027138" @@ -153927,7 +153928,6 @@ "SCTID:230325003" "DOID:0070213" "OMIM:153200" - "NCIt:C39945" "PMID:34503513" "NCIt:C86294" "SNOMEDCT:41468005" @@ -154487,13 +154487,6 @@ "MEDGEN:99336" "MESH:D002659" "SCTID:35919005" - "SCTID:722031003" - "Orphanet:2328" - "MESH:C537008" - "OMIM:244300" - "GARD:3078" - "UMLS:C0796005" - "MEDGEN:208654" "OMIM:158320" "GARD:0006821" "UMLS:C1321489" @@ -154504,6 +154497,13 @@ "MedDRA:10063042" "Orphanet:587" "DOID:0050465" + "SCTID:722031003" + "Orphanet:2328" + "MESH:C537008" + "OMIM:244300" + "GARD:3078" + "UMLS:C0796005" + "MEDGEN:208654" "MedDRA:10063573" "ICD9:985.0" "Orphanet:330021" @@ -154512,6 +154512,7 @@ "MESH:D008630" "MeSH:D020262" "GARD:7021" + "PMID:29875488" "MeSH:D008579" "DOID:3565" "MESH:D011471" @@ -154540,7 +154541,6 @@ "UMLS:C0342288" "ICD9:250.81" "DOID:0090110" - "PMID:29875488" "MEDGEN:856149" "DOID:0110463" "GARD:22652" @@ -154675,10 +154675,10 @@ "DOID:8517" "DOID:8514" "UMLS:C0155671" - "PMID:34503513" "SNOMEDCT:32037004" "MedDRA:10056573" "MeSH:D005925" + "PMID:34503513" "WBls:0000724" "PMID:28240269" "UMLS:C4072940" @@ -154726,9 +154726,9 @@ "SNOMEDCT_US:36440009" "SNOMEDCT_US:432788009" "UMLS:C2315100" - "PMID:35995766" "UMLS:C0151937" "SNOMEDCT_US:415749005" + "PMID:35995766" "MEDGEN:1645968" "UMLS:C4693391" "OMIM:617864" @@ -154861,7 +154861,6 @@ "PMID:27867577" "ICD9:93.90" "ZFA:0001024" - "PMID:29875488" "MEDGEN:67028" "UMLS:C0242994" "ICD9:079.81" @@ -154871,6 +154870,7 @@ "MESH:D018778" "SCTID:359761005" "DOID:2880" + "PMID:29875488" "SCTID:422588002" "DOID:50152" "DOID:3240" @@ -154940,11 +154940,11 @@ "UMLS:C0268296" "OMIM:264300" "ICD10:E29.1" - "PMID:33204752" "MEDDRA:10002512" "SNOMEDCT_US:14662005" "UMLS:C0003028" "SNOMEDCT_US:39659002" + "PMID:33204752" "ICD10:Q79.6" "RRID:CVCL_1168" "CLO:0002709" @@ -155375,6 +155375,7 @@ "MONDO:0006556" "DOID:3158" "PMID:33634981" + "RRID:CVCL_2458" "DOID:14753" "Orphanet:33" "NORD:712" @@ -155388,7 +155389,6 @@ "OMIM:243500" "UMLS:C0268575" "GARD:465" - "RRID:CVCL_2458" "UMLS:C2677109" "MEDGEN:383026" "MESH:C567390" @@ -155438,7 +155438,6 @@ "ZFA:0000279" "XAO:0000057" "TAO:0000279" - "PMID:35347128" "UMLS:C0227518" "Wikipedia:Lobules_of_liver" "NCIT:C32732" @@ -155470,6 +155469,7 @@ "KEGG:D02358" "CAS:51384-51-1" "HMDB:HMDB0001932" + "PMID:35347128" "PMID:35668104" "PMID:29875488" "BTO:0002574" @@ -155707,9 +155707,9 @@ "OMIMPS:243180" "UMLS:C0266834" "SCTID:280574000" - "PMID:35995766" "RRID:CVCL_4723" "CLO:0007919" + "PMID:35995766" "DOID:0111519" "GARD:17518" "UMLS:C3554599" @@ -155889,7 +155889,6 @@ "UMLS:C1852454" "OMIM:123560" "ICD10:Q69.2" - "PMID:35347128" "NCIT:C6637" "DOID:5560" "UMLS:C1334669" @@ -155898,6 +155897,7 @@ "EFO:0003424" "ZFA:0000063" "TAO:0000063" + "PMID:35347128" "PMID:28369058" "PMID:36168886" "PMID:30134952" @@ -156110,7 +156110,6 @@ "ICD9:117.9" "ICD10:E76.2" "OMIM:252940" - "PMID:29875488" "HMDB:HMDB0004645" "AGR:IND607176621" "PMID:16857740" @@ -156152,6 +156151,7 @@ "MEDGEN:152890" "DOID:7587" "NCIT:C4945" + "PMID:29875488" "Wikipedia:Abortion" "ICD10:O06" "ICD10:O04" @@ -156459,6 +156459,9 @@ "PMID:14645985" "Orphanet:295053" "icd11.foundation:790781203" + "ICD10:Q87.0" + "MedDRA:10055608" + "MeSH:D006450" "SCTID:33559001" "MEDGEN:78783" "icd11.foundation:1018973126" @@ -156470,24 +156473,21 @@ "NORD:1645" "NCIT:C131000" "OMIM:262190" - "MedDRA:10055608" - "MeSH:D006450" - "ICD10:Q87.0" "ICD10:D81.2" "OMIM:608971" "SNOMEDCT:123973009" "MeSH:D009011" "ICD10:S52.27" "PMID:29875488" + "GARD:17893" + "Orphanet:488613" + "MEDGEN:1798905" + "UMLS:C5567482" "DOID:0111956" "UMLS:C4014863" "Orphanet:319581" "OMIM:615978" "MEDGEN:863300" - "GARD:17893" - "Orphanet:488613" - "MEDGEN:1798905" - "UMLS:C5567482" "MedDRA:10044055" "NCIT:C131504" "UMLS:C3150901" @@ -156578,13 +156578,13 @@ "icd11.foundation:1867840545" "SNOMEDCT:402415001" "MedDRA:10062908" - "PMID:28240269" "UMLS:C4274732" "Orphanet:85200" "SCTID:715654001" "GARD:19052" "MEDGEN:903166" "icd11.foundation:185911418" + "PMID:28240269" "DOID:0060051" "PMID:35995766" "icd11.foundation:1276091756" @@ -156809,13 +156809,13 @@ "ICD9:696.4" "OMIM:173200" "MedDRA:10035116" - "DOID:0070519" - "OMIM:266100" "Orphanet:209867" "MEDGEN:322821" "icd11.foundation:1308905567" "GARD:17104" "UMLS:C1836081" + "DOID:0070519" + "OMIM:266100" "Orphanet:309833" "UMLS:C0236989" "NCIT:C92202" @@ -156916,9 +156916,9 @@ "XAO:0000218" "Wikipedia:Appendage" "EV:0100155" - "MIAA:0000023" "HAO:0000144" "AEO:0000193" + "MIAA:0000023" "BILA:0000018" "MAT:0000023" "CARO:0010003" @@ -158244,26 +158244,16 @@ "Orphanet:98565" "PMID:29875488" "PMID:37164013" + "PMID:23823483" "icd11.foundation:1623148241" "DOID:11669" "UMLS:C0155213" "ICD9:374.54" "SCTID:79830009" "MEDGEN:509853" - "PMID:23823483" "CLO:0009853" "BTO:0004620" "RRID:CVCL_1844" - "UMLS:C0234376" - "UMLS:C4020856" - "SNOMEDCT_US:30721006" - "MONDO:0005730" - "MeSH:D004022" - "MESH:D004022" - "DOID:4754" - "NIFSTD:birnlex_106" - "Fyler:3020" - "Fyler:3011" "MEDGEN:52527" "DOID:8970" "ICD10CM:A81.1" @@ -158284,6 +158274,16 @@ "NCIT:C85171" "Orphanet:2806" "GARD:7708" + "UMLS:C0234376" + "UMLS:C4020856" + "SNOMEDCT_US:30721006" + "MONDO:0005730" + "MeSH:D004022" + "MESH:D004022" + "DOID:4754" + "NIFSTD:birnlex_106" + "Fyler:3020" + "Fyler:3011" "GARD:5290" "MEDGEN:348710" "UMLS:C1860804" @@ -159793,21 +159793,21 @@ "DOID:0060360" "MEDGEN:350144" "UMLS:C1863343" - "OMIM:191800" - "UMLS:C5231389" - "MEDGEN:1684829" "MEDGEN:275871" "UMLS:C1517120" "NCIT:C40109" "DOID:3705" + "OMIM:191800" + "UMLS:C5231389" + "MEDGEN:1684829" "PMID:29875488" + "UMLS:C0271847" "SCTID:19034001" "ICD9:588.81" "MEDGEN:543606" "ICD10CM:N25.81" "DOID:12465" "icd11.foundation:610229783" - "UMLS:C0271847" "RRID:CVCL_1685" "BTO:0005855" "CLO:0008969" @@ -159939,12 +159939,12 @@ "DOID:0080098" "OMIM:617114" "PMID:26160806" - "PMID:24816252" "ZFA:0000031" "MEDGEN:1778557" "UMLS:C5543339" "Orphanet:662234" "OMIM:619312" + "PMID:24816252" "UMLS:C0032339" "MedDRA:10052510" "OMIM:268400" @@ -160982,9 +160982,9 @@ "NCIt:C12427" "OMIM:161000" "ICD10:Q82.4" + "PMID:28369058" "PMID:29875488" "PMID:28240269" - "PMID:28369058" "NCIT:C6389" "DOID:3445" "MEDGEN:235088" @@ -161028,8 +161028,8 @@ "EFO:0000461" "GAID:407" "FMA:69067" - "ZFA:0001105" "VSAO:0000178" + "ZFA:0001105" "OMIM:192315" "Orphanet:108965" "UMLS:C5562024" @@ -161055,7 +161055,6 @@ "icd11.foundation:1293648631" "OMIM:236795" "UMLS:C0342737" - "PMID:35347128" "UMLS:C0280856" "DOID:2101" "Orphanet:494448" @@ -161066,6 +161065,7 @@ "SCTID:254895003" "icd11.foundation:146824338" "EFO:1000624" + "PMID:35347128" "OMIM:617757" "OMIM:617622" "OMIM:610688" @@ -161127,8 +161127,8 @@ "GAID:842" "EMAPA:16988" "EHDAA2:0000180" - "MESH:D001917" "SCTID:181002002" + "MESH:D001917" "Wikipedia:Brachial_plexus" "ORCID:0000-0001-8222-008X" "PMID:33462484" @@ -161715,12 +161715,6 @@ "NCIT:C114667" "UMLS:C4021873" "NCIt:C17723" - "GARD:19278" - "NANDO:2200313" - "Orphanet:95502" - "MEDGEN:1843262" - "ICD10CM:E23.0" - "UMLS:C5681569" "NCIT:C4978" "DOID:5672" "SCTID:363510005" @@ -161730,6 +161724,12 @@ "ICD10:C18.9" "KEGG:05210" "UMLS:C1527249" + "GARD:19278" + "NANDO:2200313" + "Orphanet:95502" + "MEDGEN:1843262" + "ICD10CM:E23.0" + "UMLS:C5681569" "UMLS:C0020075" "UMLS:C0002768" "OMIM:243000" @@ -161790,11 +161790,11 @@ "Orphanet:79147" "MEDGEN:347504" "PMID:29875488" - "MedDRA:10027008" "Orphanet:98795" "GARD:19578" "MEDGEN:1826078" "UMLS:C5680342" + "MedDRA:10027008" "OMIM:619733" "UMLS:C5676909" "MEDGEN:1812978" @@ -161858,6 +161858,8 @@ "MEDGEN:1842344" "GARD:20407" "Orphanet:208593" + "NCIt:C68364" + "MeSH:C049811" "OMIM:251300" "OMIM:617731" "UMLS:C0795949" @@ -161869,8 +161871,6 @@ "OMIM:618349" "OMIM:618347" "OMIM:617730" - "NCIt:C68364" - "MeSH:C049811" "Wikipedia:Heart_development" "icd11.foundation:1699813614" "ICD9:359.89" @@ -161902,11 +161902,11 @@ "DOID:14482" "ICD9:646.80" "PMID:24816252" + "PATO:0001338" "OMIM:606529" "MESH:C564700" "UMLS:C1847865" "MEDGEN:338335" - "PATO:0001338" "DOID:3706" "NCIT:C6265" "UMLS:C1333590" @@ -162109,6 +162109,8 @@ "DOID:0111052" "NANDO:2200671" "SCTID:128098009" + "OMIM:602541" + "ICD10:G71.2" "FBbt:00005504" "OMIM:125350" "Orphanet:412206" @@ -162117,8 +162119,6 @@ "MESH:C565114" "MEDGEN:338882" "UMLS:C1852222" - "OMIM:602541" - "ICD10:G71.2" "RRID:CVCL_2187" "BTO:0004766" "PMID:37794183" @@ -162413,9 +162413,9 @@ "UMLS:C0524582" "ICD9:759.89" "PMID:29875488" + "Reaxys:10227786" "NCIt:C26938" "MedDRA:10016667" - "Reaxys:10227786" "UMLS:C0686615" "SCTID:92408009" "MEDGEN:146355" @@ -162463,8 +162463,6 @@ "ICDO:8243/3" "NCIT:C3689" "EFO:1000090" - "OMIM:608799" - "ICD10:E77.8" "Wikipedia:Warfarin" "PMID:25393417" "Pesticides:warfarin" @@ -162515,6 +162513,8 @@ "PMID:26114209" "PMID:25828628" "PMID:25842804" + "OMIM:608799" + "ICD10:E77.8" "SNOMEDCT_US:276617005" "SNOMEDCT_US:59576002" "UMLS:C0456070" @@ -162760,14 +162760,14 @@ "MEDGEN:1648363" "UMLS:C4748841" "DOID:0111854" - "PMID:27764670" "ICDO:9053/3" "NCIT:C4282" "DOID:4486" - "UMLS:C0334515" "MEDGEN:137775" + "UMLS:C0334515" "EFO:1000124" "MONDO:0006109" + "PMID:27764670" "PMID:35347128" "MESH:D007904" "FMA:58970" @@ -162906,12 +162906,12 @@ "UMLS:C0694457" "MEDGEN:1843482" "ICD10CM:Q00-Q99" - "UMLS:C2931366" - "OMIM:188150" - "MeSH:C536904" "PMID:33634981" "Orphanet:488594" "OMIM:616907" + "UMLS:C2931366" + "OMIM:188150" + "MeSH:C536904" "OMIM:259100" "MEDGEN:1641972" "GARD:15216" @@ -163210,8 +163210,8 @@ "icd11.foundation:1006662041" "UMLS:C5680773" "PMID:37794183" - "PMID:31530798" "PMID:35995766" + "PMID:31530798" "UMLS:C1839630" "PMID:29875488" "MEDGEN:233981" @@ -163774,6 +163774,13 @@ "OMIM:249500" "MESH:C565406" "GARD:22537" + "UMLS:C0752191" + "DOID:13722" + "icd11.foundation:446216876" + "MESH:D020818" + "MEDGEN:155718" + "MONDO:0005874" + "MeSH:D020818" "Fyler:1100" "SNOMEDCT_US:15459006" "Fyler:606" @@ -163782,13 +163789,6 @@ "UMLS:C1389016" "Fyler:0606" "UMLS:C0014116" - "UMLS:C0752191" - "DOID:13722" - "icd11.foundation:446216876" - "MESH:D020818" - "MEDGEN:155718" - "MONDO:0005874" - "MeSH:D020818" "PMID:29875488" "NANDO:1200721" "SNOMEDCT:77182004" @@ -164265,9 +164265,9 @@ "HMDB:HMDB0000244" "NCIt:C72267" "PMID:29875488" + "PMID:37253714" "PMID:30476138" "NCIt:C64810" - "PMID:37253714" "SCTID:77098009" "MESH:D011546" "GARD:21861"