diff --git a/efo-base.owl b/efo-base.owl
index 5361fe41..a554dda0 100644
--- a/efo-base.owl
+++ b/efo-base.owl
@@ -52,7 +52,7 @@
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
- 2024-08-08
+ 2024-08-14
3.68.0
@@ -517189,6 +517189,43 @@ Smart-seq3 is a continuation and improvement of the Smart-seq technology, specif
+
+
+
+
+ The Illumina NovaSeq X is a high-throughput sequencing machine developed by Illumina.
+ Zoe May Pendlington
+ 2024-08-08T13:01:38Z
+ Illumina NovaSeq X
+
+
+
+
+
+
+
+
+ The Illumina NovaSeq X Plus is a high-throughput sequencing machine developed by Illumina.
+ Zoe May Pendlington
+ 2024-08-08T13:10:10Z
+ Illumina NovaSeq X Plus
+
+
+
+
+
+
+
+
+ It is the most common clonal somatic alteration in leukocytes of female individuals.
+ Zoe May Pendlington
+ 2024-08-14T09:43:25Z
+ mLOX
+ mosaic loss of chromosome X measurement
+
+
+
+
diff --git a/src/ontology/efo-edit.owl b/src/ontology/efo-edit.owl
index c103116c..ffa58de0 100644
--- a/src/ontology/efo-edit.owl
+++ b/src/ontology/efo-edit.owl
@@ -17225,6 +17225,7 @@ Declaration(Class(efo:EFO_0022838))
Declaration(Class(efo:EFO_0022839))
Declaration(Class(efo:EFO_0022840))
Declaration(Class(efo:EFO_0022841))
+Declaration(Class(efo:EFO_0022842))
Declaration(Class(efo:EFO_0030000))
Declaration(Class(efo:EFO_0030001))
Declaration(Class(efo:EFO_0030002))
@@ -207567,6 +207568,15 @@ AnnotationAssertion(dc:date efo:EFO_0022841 "2024-08-08T13:10:10Z"^^xsd:dateTime
AnnotationAssertion(rdfs:label efo:EFO_0022841 "Illumina NovaSeq X Plus"@en)
SubClassOf(efo:EFO_0022841 efo:EFO_0002699)
+# Class: efo:EFO_0022842 (mosaic loss of chromosome X measurement)
+
+AnnotationAssertion(obo:IAO_0000115 efo:EFO_0022842 "It is the most common clonal somatic alteration in leukocytes of female individuals.")
+AnnotationAssertion(dc:creator efo:EFO_0022842 "Zoe May Pendlington")
+AnnotationAssertion(dc:date efo:EFO_0022842 "2024-08-14T09:43:25Z"^^xsd:dateTime)
+AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0022842 "mLOX")
+AnnotationAssertion(rdfs:label efo:EFO_0022842 "mosaic loss of chromosome X measurement"@en)
+SubClassOf(efo:EFO_0022842 efo:EFO_0004554)
+
# Class: efo:EFO_0030000 (STARmap)
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:29930089") Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0002-3090-9894") obo:IAO_0000115 efo:EFO_0030000 "STARmap is an image-based technology for 3D intact-tissue RNA sequencing, which integrates hydrogel-tissue chemistry, targeted signal amplification, and in situ sequencing.")
diff --git a/src/ontology/imports/hp_import.owl b/src/ontology/imports/hp_import.owl
index fc456897..77f2f77f 100644
--- a/src/ontology/imports/hp_import.owl
+++ b/src/ontology/imports/hp_import.owl
@@ -56589,6 +56589,25 @@
+
+
+
+
+ The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization.
+ 2017-12-14T13:39:58Z
+
+ The presence of choroidal polyps and BVN can lead to recurrent episodes of exudative retinal detachment, serous or hemorrhagic pigment epithelial detachment (PED), subretinal hemorrhage, and subretinal exudation.
+ Polypoidal choroidal vasculopathy
+
+
+
+
+ The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization.
+ PMID:24653824
+
+
+
+
diff --git a/src/ontology/imports/hp_terms.txt b/src/ontology/imports/hp_terms.txt
index be71b0c3..2f66975a 100644
--- a/src/ontology/imports/hp_terms.txt
+++ b/src/ontology/imports/hp_terms.txt
@@ -1646,6 +1646,7 @@ http://purl.obolibrary.org/obo/HP_0025428
http://purl.obolibrary.org/obo/HP_0025501
http://purl.obolibrary.org/obo/HP_0025517
http://purl.obolibrary.org/obo/HP_0025534
+http://purl.obolibrary.org/obo/HP_0025569
http://purl.obolibrary.org/obo/HP_0025700
http://purl.obolibrary.org/obo/HP_0030016
http://purl.obolibrary.org/obo/HP_0030050
diff --git a/src/ontology/iri_dependencies/hp_terms.txt b/src/ontology/iri_dependencies/hp_terms.txt
index d1dbc9d7..e3eaf550 100644
--- a/src/ontology/iri_dependencies/hp_terms.txt
+++ b/src/ontology/iri_dependencies/hp_terms.txt
@@ -1887,3 +1887,4 @@ http://purl.obolibrary.org/obo/HP_0009589
http://purl.obolibrary.org/obo/HP_0032025
http://purl.obolibrary.org/obo/HP_0003233
http://purl.obolibrary.org/obo/HP_0040298
+http://purl.obolibrary.org/obo/HP_0025569
diff --git a/src/ontology/reports/basic-report.tsv b/src/ontology/reports/basic-report.tsv
index 2f744fda..a507f6d3 100644
--- a/src/ontology/reports/basic-report.tsv
+++ b/src/ontology/reports/basic-report.tsv
@@ -570,7 +570,7 @@
"A rare carcinoma of the stomach resembling squamous cell carcinomas arising elsewhere in the body." "ICD10:C16.1 ICD10:C16.4 DOID:5516 Orphanet:418959 GARD:21743 ICD10:C16.0 NCIT:C5475 UMLS:CN237470 ICD10:C16.5 ICD10:C16.8 MONDO:0006230 MEDGEN:234302 EFO:1000278 SCTID:766980008 ICD10:C16.3 UMLS:C1333789 ICD10:C16.2"
"Sepsis associated with organ dysfunction distant from the site of infection." "ICD9:995.91 SNOMEDCT:91302008 NCIt:C3364 NCIt:C111915 MeSH:D018805"
"MeSH:D046970 NCIt:C86271 SNOMEDCT:9766004"
- "Cranial neural crest which gives rise to the trigeminal ganglion." "EFO:0003484 VHOG:0000269 EMAPA:16170 ZFA:0000080 EHDAA:667 TAO:0000080 EHDAA2:0002083"
+ "Cranial neural crest which gives rise to the trigeminal ganglion." "VHOG:0000269 EMAPA:16170 ZFA:0000080 EHDAA:667 TAO:0000080 EHDAA2:0002083 EFO:0003484"
"The amount of a VIP36-like protein when measured in blood serum."
"SNOMEDCT:61302002 NCIt:C77176"
"Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid." "UMLS:C4023155"
@@ -799,7 +799,7 @@
"quantification of the amount of Agouti-related protein in a sample"
"A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes."
"The amount of a protein-glutamine gamma-glutamyltransferase K when measured in blood serum."
- "Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine[BTO]." "NCIT:C12666 GAID:446 CALOHA:TS-0016 AAO:0010551 XAO:0000164 MESH:D000311 MAT:0000071 UMLS:C0001625 Wikipedia:Adrenal_gland EV:0100135 BTO:0000047 FMA:9604 galen:AdrenalGland SCTID:181127006 EFO:0000238 MIAA:0000071 EMAPA:18426 MA:0000116"
+ "Either of a pair of complex endocrine organs near the anterior medial border of the kidney consisting of a mesodermal cortex that produces glucocorticoid, mineralocorticoid, and androgenic hormones and an ectodermal medulla that produces epinephrine and norepinephrine[BTO]." "NCIT:C12666 GAID:446 CALOHA:TS-0016 AAO:0010551 XAO:0000164 MESH:D000311 UMLS:C0001625 MAT:0000071 Wikipedia:Adrenal_gland EV:0100135 BTO:0000047 FMA:9604 galen:AdrenalGland SCTID:181127006 EFO:0000238 MIAA:0000071 EMAPA:18426 MA:0000116"
"A HETE having a (12S)-hydroxy group and (5Z)-, (8Z)-, (10E)- and (14Z)-double bonds." "PMID:7688315 PMID:12697425 CAS:54397-83-0 PMID:7511046 KEGG:C14777 PMID:11726629 PMID:11158968 Beilstein:2656104 LIPID_MAPS_instance:LMFA03060007 PMID:7593207 PMID:2517876 PMID:7540838 PMID:17963719 PMID:7683691 KNApSAcK:C00000424 PMID:11756509 PMID:25449650 PMID:7492988 Reaxys:2656104 PMID:15105833 PMID:3026490 PMID:10952974"
"A neoplasm (disease) that involves the major salivary gland." "UMLS:C0345599 NCIT:C4407 SCTID:126787005 MEDGEN:83383"
"Quantification of sphingomyelin (d18:1/25:0, d19:0/24:1, d20:1/23:0, d19:1/24:0) in a sample."
@@ -949,7 +949,7 @@
"Quantification of the amount of 11beta-hydroxyandrosterone glucuronide in a sample." "PMID:35347128"
"A neoplasm (disease) that involves the ear." "UMLS:C0013449 MEDGEN:4431 NCIT:C3000"
"SNOMEDCT:22937005 MeSH:D047010"
- "A thienopyridine that is 4,5,6,7-tetrahydrothieno[3,2-c]pyridine in which the hydrogen attached to the nitrogen is replaced by an o-chlorobenzyl group." "Patent:US4127580 SNOMEDCT:386950000 Patent:DE2404308 DrugBank:DB00208 ChemIDplus:55142-85-3 CAS:55142-85-3 PMID:19180126 KEGG:D08594 KEGG:C07140 NCIt:C61972 Drug_Central:2657 KEGG COMPOUND:C07140 MeSH:D013988 Patent:US4051141 SNOMEDCT:108971003 Reaxys:1216802 Wikipedia:Ticlopidine LINCS:LSM-1986"
+ "A thienopyridine that is 4,5,6,7-tetrahydrothieno[3,2-c]pyridine in which the hydrogen attached to the nitrogen is replaced by an o-chlorobenzyl group." "SNOMEDCT:386950000 Patent:DE2404308 DrugBank:DB00208 ChemIDplus:55142-85-3 CAS:55142-85-3 PMID:19180126 KEGG:D08594 KEGG:C07140 NCIt:C61972 Drug_Central:2657 KEGG COMPOUND:C07140 MeSH:D013988 Patent:US4051141 SNOMEDCT:108971003 Reaxys:1216802 Wikipedia:Ticlopidine LINCS:LSM-1986 Patent:US4127580"
"The amount of a large ribosomal subunit protein uL2m when measured in blood serum."
"Quantification of the amount of X-17685 in a sample." "PMID:35347128"
"The amount of a S-arrestin when measured in blood serum."
@@ -1130,7 +1130,7 @@
"A sporadic or inherited disorder characterized by the focal or diffuse proliferation of the cells of the islets of Langerhans in the pancreas. It results in hyperinsulinemia and hypoglycemia." "NCIT:C4375 MEDGEN:293643 UMLS:C1578917 OMIM:147630 SCTID:274944000 MESH:C563258"
"The amount of a zinc finger protein 593 when measured in blood serum."
- "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters." "UMLS:C0008049 MONDO:0005700 SCTID:38907003 MEDGEN:2995 MeSH:D002644 MedDRA:10008505 ICD9:052.9 MESH:D002644 NCIT:C97132 ICD10:B01 DOID:8659 ICD9:052"
+ "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters." "UMLS:C0008049 MONDO:0005700 SCTID:38907003 MEDGEN:2995 MeSH:D002644 ICD9:052.9 MESH:D002644 MedDRA:10008505 NCIT:C97132 ICD10:B01 DOID:8659 ICD9:052"
"OMIM:613752 ICD10:E72.1"
"The determination of the amount of hormone present in a sample." "SNOMEDCT:122445005 NCIt:C74742"
@@ -1303,7 +1303,7 @@
"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"
@@ -2064,7 +2064,7 @@
"Quantification of arf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2 in a sample." "PMID:29875488"
"Tracheal primordium that develops into the embryonic/larval visceral branch. It branches anteriorly from the dorsal portion of the transverse connective primordium during stage 12, coursing anteriorly and inwardly towards the gut." "FBbt:00017003"
- "The subthalamic nucleus is the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function[GO]." "CALOHA:TS-1154 MA:0000877 FMA:62035 EV:0100224 BAMS:SUB EMAPA:35839 HBA:4518 NCIT:C12454 GAID:655 UMLS:C0152355 Wikipedia:Subthalamic_nucleus NLXANAT:1010002 EFO:0001392 BM:Die-Sb BAMS:STh SCTID:361575000 neuronames:435 BAMS:STN BTO:0002252 MBA:470 DHBA:10466 MESH:D020531"
+ "The subthalamic nucleus is the lens-shaped nucleus located in the ventral part of the subthalamus on the inner aspect of the internal capsule that is concerned with the integration of somatic motor function[GO]." "MA:0000877 CALOHA:TS-1154 FMA:62035 EV:0100224 BAMS:SUB EMAPA:35839 HBA:4518 NCIT:C12454 GAID:655 UMLS:C0152355 Wikipedia:Subthalamic_nucleus NLXANAT:1010002 EFO:0001392 BM:Die-Sb BAMS:STh SCTID:361575000 neuronames:435 BAMS:STN BTO:0002252 MBA:470 DHBA:10466 MESH:D020531"
"Quantification of the amount of valylphenylalanine in a sample." "PMID:35347128"
"A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas." "ICD9:202.80 MEDGEN:44223 ICD10:C85.9 ONCOTREE:MLYM GARD:0011955 EFO:0000574 UMLS:C0024299 SCTID:118600007 MESH:D008223 Orphanet:223735 ICDO:9590/3 ICD9:200.0 SCTID:373168002 COHD:432571 NANDO:2100004 OMIM:605027 DOID:0060058 ICD9:200.1 MONDO:0005062 MedDRA:10025310 NCIT:C3208"
@@ -3498,7 +3498,7 @@
"OMIM:310440 ICD10:G71.8"
- "Initial section of the oviduct through which the ova pass from the ovary to the uterus." "CALOHA:TS-0732 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"
+ "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"
"A shoot apex PO:0000037) that has as part a vegetative shoot apical meristem (PO:0008016)."
@@ -4017,7 +4017,7 @@
"An adenocarcinoma that arises from the endocervix. It is the most common type of endocervical adenocarcinoma. The neoplastic epithelium shows a pseudostratified architecture and the malignant cells have enlarged, elongated, and hyperchromatic nuclei." "MEDGEN:688039 NCIT:C127907 ONCOTREE:ECAD UMLS:C1263762 SCTID:123842006 DOID:0050940"
"OMIM:304400 ICD10:H90.8"
- "The head of pancreas is a portion of the pancreas that is lodged within the curve of the duodenum, and is flattened anteriorly (from before). The other parts of the pancreas are the body and the tail. Its upper border is overlapped by the superior part of the duodenum and its lower overlaps the horizontal part; its right and left borders overlap in front, and insinuate themselves behind, the descending and ascending parts of the duodenum respectively. [WP,unvetted]." "FMA:10468 MA:0000122 SCTID:362201006 EMAPA:17507 NCIT:C12269 VHOG:0000448 UMLS:C0227579 EHDAA2:0001374 Wikipedia:Head_of_pancreas"
+ "The head of pancreas is a portion of the pancreas that is lodged within the curve of the duodenum, and is flattened anteriorly (from before). The other parts of the pancreas are the body and the tail. Its upper border is overlapped by the superior part of the duodenum and its lower overlaps the horizontal part; its right and left borders overlap in front, and insinuate themselves behind, the descending and ascending parts of the duodenum respectively. [WP,unvetted]." "FMA:10468 MA:0000122 SCTID:362201006 EMAPA:17507 VHOG:0000448 NCIT:C12269 UMLS:C0227579 EHDAA2:0001374 Wikipedia:Head_of_pancreas"
"The amount of a transmembrane protein 59-like when measured in blood serum."
"This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life."
@@ -4820,7 +4820,7 @@
"In the heart, the atrium is an upper chamber found on both sides of the heart. The left atrium receives red, oxygenated blood from the lungs by way of the pulmonary veins. The right atrium receives dark red blood from the other parts of the body." "MA:0000073 FMA:85574 TAO:0000471 MeSH:D006325 EMAPA:16688 MAT:0000496 BTO:0000903 EHDAA:1265 EV:0100018 MFO:0080900"
"GERONTOLOGY RESEARCH CENTER (GRC) CELL CULTURE COLLECTION BALTIMORE LONGITUDINAL STUDY ON AGING (BLSA)"
"UMLS:C0700299 MedDRA:10002058 HP:0005511 MEDGEN:148583 DOID:0111363 MESH:C563030 OMIM:140700 Orphanet:178330"
- "A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." "MONDO:0006421 EFO:1000538 MEDGEN:328036 NCIT:C43552 UMLS:C1710112"
+ "A usually polypoid neoplasm that arises from the glandular epithelium of the small intestine. It is characterized by a tubular architectural pattern. The neoplastic glandular cells have dysplastic features." "UMLS:C1710112 MONDO:0006421 EFO:1000538 MEDGEN:328036 NCIT:C43552"
"Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol." "Orphanet:35107 GARD:10283 ICD9:272.8 MEDGEN:400801 OMIM:602398 SCTID:709490002 MESH:C566555 UMLS:C1865596"
"Quantification of the amount of methyl glucopyranoside (alpha + beta) in a sample." "PMID:35347128"
"The amount of a NADP-dependent malic enzyme when measured in blood serum."
@@ -5171,7 +5171,7 @@
"OMIM:618364 OMIM:614937 ICD10:G25.3"
- "A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells." "NCIT:C40112 DOID:3173 UMLS:C1517123 MEDGEN:275874"
+ "A benign epithelial neoplasm that arises from the fallopian tube. It is characterized by the presence of fibrovascular stalks lined by serous epithelial cells." "NCIT:C40112 DOID:3173 MEDGEN:275874 UMLS:C1517123"
"The amount of a dihydrolipoyl dehydrogenase, mitochondrial when measured in blood serum."
"Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay." "OMIM:602849 GARD:7097 MEDGEN:355217 Orphanet:53271 SCTID:440350001 MESH:C537369 DOID:0060703 NCIT:C84904 UMLS:C1864436"
@@ -5804,7 +5804,7 @@
"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."
@@ -5836,7 +5836,7 @@
"Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris." "UMLS:C0003076 SNOMEDCT_US:69278003"
"Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities." "Orphanet:101028 GARD:10445 MESH:C563207 MEDGEN:224855 SCTID:124252008 OMIM:606003 UMLS:C1291329 ICD9:277.6"
- "NCIt:C412 DrugBank:DB00970 SNOMEDCT:64127001 KEGG:C06770 MeSH:D003609 Wikipedia:Dactinomycin SNOMEDCT:387353003 CAS:50-76-0 Drug_Central:774 Beilstein:4173766 LINCS:LSM-5783 KEGG:D00214"
+ "NCIt:C412 DrugBank:DB00970 SNOMEDCT:64127001 KEGG:C06770 MeSH:D003609 Wikipedia:Dactinomycin SNOMEDCT:387353003 CAS:50-76-0 Drug_Central:774 Beilstein:4173766 KEGG:D00214 LINCS:LSM-5783"
"A thymocyte that has a T cell receptor consisting of a gamma chain containing Vgamma2 segment, and a delta chain. This cell type is CD4-negative, CD8-negative and CD24-negative. This cell-type is found in the fetal thymus."
"DOID:0080981 OMIM:618947 MEDGEN:1731112 UMLS:C5436453"
"Nail dysplasia is an idiopathic nail dystrophy, beginning in early childhood, and characterized by excessive longitudinal striations and loss of nail luster affecting all 20 nails." "MESH:C562907 GARD:10363 UMLS:C0406443 DOID:0080079 MEDGEN:96056 SCTID:238719003 ICD9:703.8 DOID:0080088 OMIM:161050 Orphanet:79153"
@@ -6953,7 +6953,7 @@
"The amount of a cystic fibrosis transmembrane conductance regulator when measured in blood serum."
"A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." "ICD9:278.00 NIFSTD:nlx_dys_20090302 SCTID:414916001 MEDGEN:18127 NCIt:C3283 MONDO:0011122 DOID:9970 OMIM:601665 MedDRA:10029883 MeSH:D009765 HP:0001513 Orphanet:521399 SNOMEDCT:414916001 UMLS:C0028754 NCIT:C3283 MedDRA:10029885 ICD10:E66 ICD9:278.0"
- "An alpha-tocopherol that has R,R,R configuration. The naturally occurring stereoisomer of alpha-tocopherol, it is found particularly in sunflower and olive oils." "PMID:31013594 PMID:19663978 PMID:28694484 PMID:20209471 PMID:23599266 SNOMEDCT:116776001 LIPID_MAPS_instance:LMPR02020001 Chemspider:14265 SNOMEDCT:37237003 KNApSAcK:C00007366 PMID:14657365 KEGG:C02477 Reaxys:94012 NCIt:C2832 Wikipedia:Alpha-Tocopherol MetaCyc:ALPHA-TOCOPHEROL PMID:16512933 PMID:17031012 PMID:19389964 PMID:33197771 PMID:21591326 PDBeChem:VIV PMID:17310859 PMID:11427352 DrugBank:DB00163 HMDB:HMDB0001893 Beilstein:94012 Drug_Central:4280 CAS:59-02-9 FooDB:FDB000565 PMID:12899840 Beilstein:5300493 MeSH:D014810"
+ "An alpha-tocopherol that has R,R,R configuration. The naturally occurring stereoisomer of alpha-tocopherol, it is found particularly in sunflower and olive oils." "PMID:31013594 PMID:19663978 PMID:28694484 PMID:20209471 PMID:23599266 SNOMEDCT:116776001 LIPID_MAPS_instance:LMPR02020001 Chemspider:14265 SNOMEDCT:37237003 KNApSAcK:C00007366 PMID:14657365 KEGG:C02477 Reaxys:94012 NCIt:C2832 Wikipedia:Alpha-Tocopherol MetaCyc:ALPHA-TOCOPHEROL PMID:16512933 PMID:17031012 PMID:19389964 PMID:33197771 PDBeChem:VIV PMID:21591326 PMID:17310859 PMID:11427352 DrugBank:DB00163 HMDB:HMDB0001893 Beilstein:94012 Drug_Central:4280 CAS:59-02-9 FooDB:FDB000565 PMID:12899840 Beilstein:5300493 MeSH:D014810"
"Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood." "SCTID:717264003 UMLS:C0432227 GARD:10429 MEDGEN:96583 OMIM:113500 Orphanet:93304"
"Rapid whole-genome sequencing (STATseq)" "PMID:25937001"
"Inbred Strain." "TGEMO:00052 MGI:2162087"
@@ -8944,7 +8944,7 @@
"Quantification of receptor-type tyrosine-protein phosphatase R in a sample." "PMID:29875488"
"NCIt:C33346 FMA:61896"
"Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal." "OMIM:269860 GARD:4832 Orphanet:93268 MESH:C537599 DOID:9249 SCTID:254052001 MEDGEN:96578 ICD9:756.9 UMLS:C0432198"
- "A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." "SCTID:713609000 MONDO:0006256 NCIT:C9245 UMLS:C0853879 ONCOTREE:BRCA EFO:1000307 MEDGEN:163435"
+ "A carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." "MONDO:0006256 NCIT:C9245 UMLS:C0853879 ONCOTREE:BRCA EFO:1000307 MEDGEN:163435 SCTID:713609000"
"An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma." "DOID:3605 MONDO:0002702 NCIT:C5228 UMLS:C1096638 MEDGEN:242756 EFO:1001962 SCTID:314191009"
"CS57752 is an Arabidopsis thaliana strain as described in TAIR http://www.arabidopsis.org/servlets/TairObject?id=1005158776&type=germplasm"
"The amount of a dialkylglycerol when measured in blood serum."
@@ -9453,7 +9453,7 @@
"Quantification of the amount of 1-palmitoyl-2-docosahexaenoyl-GPE (16:0/22:6) in a sample." "PMID:35347128"
"The amount of a PTB-containing, cubilin and LRP1-interacting protein when measured in blood serum."
"Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (incl. tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977." "GARD:18773 MESH:C535640 Orphanet:2487 MEDGEN:418952 UMLS:C2930962"
- "A calcheamicin in which contains 3-O-methyl-alpha-L-rhamnosyl, 2,6-dideoxy-4-thio-beta-D-ribo-hexopyranosyl, and 4-amino-4,6-dideoxy-2-O-[2,4-dideoxy-4-(ethylamino)-3-O-methyl-alpha-L-threo-pentopyranosyl]-alpha-L-idopyranose units and in which the aromatic ring contains an iodo substituent." "CiteXplore:12606118 PMID:1584797 Reaxys:9894883 KEGG COMPOUND:108212-75-5 PMID:15099529 CiteXplore:2753814 MeSH:C055955 PMID:12606118 CAS:108212-75-5 CiteXplore:1584797 PMID:2753814 KEGG COMPOUND:C11469 ChemIDplus:108212-75-5 CiteXplore:15099529 KEGG:C11469"
+ "A calcheamicin in which contains 3-O-methyl-alpha-L-rhamnosyl, 2,6-dideoxy-4-thio-beta-D-ribo-hexopyranosyl, and 4-amino-4,6-dideoxy-2-O-[2,4-dideoxy-4-(ethylamino)-3-O-methyl-alpha-L-threo-pentopyranosyl]-alpha-L-idopyranose units and in which the aromatic ring contains an iodo substituent." "CiteXplore:12606118 PMID:1584797 Reaxys:9894883 KEGG COMPOUND:108212-75-5 PMID:15099529 PMID:12606118 CiteXplore:2753814 MeSH:C055955 CAS:108212-75-5 CiteXplore:1584797 PMID:2753814 KEGG COMPOUND:C11469 ChemIDplus:108212-75-5 CiteXplore:15099529 KEGG:C11469"
"HpaII tiny fragment enrichment by ligation-mediated PCR (HELP-Seq)" "PMID:19386619"
"A morphologic variant of lung adenocarcinoma characterized by the presence of acinar structures composed of columnar or cuboidal cells. (NCI05)" "NCIT:C5649 UMLS:C1332137 MEDGEN:233130 DOID:6482"
"The amount of a dual specificity tyrosine-phosphorylation-regulated kinase 1A when measured in blood serum."
@@ -9585,7 +9585,7 @@
"Any measurable or observable characteristic related to the shape and structure of the crus helix, the continuation of the anteroinferior ascending helix, which extends in a posteroinferior direction into the cavity of the concha above the external auditory meatus. The average crus helix extends about one half to two thirds the distance across the concha. "
"OMIM:612956 OMIM:603829 ICD10:I49.0"
- "XPCS2BA; also has features of Cockayne syndrome; no evidence of malignancy; bilateral sensorineural hearing loss; dry skin; numerous freckles; hyperpigmented macules; broad-based choreoathetotic gait; brother of GM13025; donor subject is homozygous for a T>C transversion in the ERCC3 gene which results in a phenylalanine-99-to-serine missense mutation [PHE99SER (F99S)]." "CLO:0013998 RRID:CVCL_V272"
+ "XPCS2BA; also has features of Cockayne syndrome; no evidence of malignancy; bilateral sensorineural hearing loss; dry skin; numerous freckles; hyperpigmented macules; broad-based choreoathetotic gait; brother of GM13025; donor subject is homozygous for a T>C transversion in the ERCC3 gene which results in a phenylalanine-99-to-serine missense mutation [PHE99SER (F99S)]." "RRID:CVCL_V272 CLO:0013998"
"Quantification of azothoate in blood plasma." "KEGG COMPOUND:C19020"
"Quantification of the amount of 1-palmitoyl-2-alpha-linolenoyl-GPC (16:0/18:3n3) in a sample." "PMID:35347128"
@@ -9635,7 +9635,7 @@
"Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." "OMIM:261750 ICD10:E74.0"
"An extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive." "UMLS:C4305104 SCTID:718880003 Orphanet:50812 MEDGEN:930773 GARD:18841"
"Human pancreatic adenocarcinoma cell line." "RRID:CVCL_3917 BTO:0003303"
- "The most superficial muscle of the triceps surae group, in the posterior portion of the lower hindleg." "UMLS:C0242691 MA:0002306 EHDAA:8293 Wikipedia:Gastrocnemius_muscle FMA:22541 NCIT:C32666 EFO:0001413 EHDAA2:0000701 galen:Gastrocnemius VHOG:0001193 SCTID:181700004 EMAPA:35375 BTO:0000506"
+ "The most superficial muscle of the triceps surae group, in the posterior portion of the lower hindleg." "UMLS:C0242691 MA:0002306 EHDAA:8293 Wikipedia:Gastrocnemius_muscle FMA:22541 EFO:0001413 NCIT:C32666 EHDAA2:0000701 galen:Gastrocnemius VHOG:0001193 SCTID:181700004 EMAPA:35375 BTO:0000506"
"Quantification of the ratio of C-glycosyltryptophan to succinylcarnitine in a sample." "PMID:24816252"
"Quantification of the amount of 3,7-dimethylurate in a sample." "PMID:35347128"
"Quantification of the amount of X-11438 in a sample." "PMID:24816252"
@@ -9842,6 +9842,7 @@
"A cubic centimeter is a volume unit which is equal to one millionth of a cubic meter or 10^[-9] m^[3], or to 1 ml." "MO:834"
"The amount of a pseudouridine-5'-phosphatase when measured in blood serum."
"Quantification of the amount of glycosyl ceramide (d18:2/24:1, d18:1/24:2) in a sample." "PMID:35347128"
+ "The presence of aneurysmal polypoidal lesions in the choroidal vasculature. The aneurysmal dilatations, also known as polyps, may be found at subfoveal, juxtafoveal, extrafoveal, peripapillary or even peripheral regions. These polypoidal dilatations may be visible as reddish-orange subretinal nodules during ophthalmoscopic examination. The polypoidal lesions are best detected on indocyanine green angiography (ICGA) and might be associated with a branching vascular network (BVN) of neovascularization."
"RRID:CVCL_0532 BTO:0000948 CLO:0009063"
"human multiple myeloma cell line from a 77 year old Japanese female"
"Brugada syndrome (BrS) manifests with ST segment elevation in right precordial leads (V1 to V3), incomplete or complete right bundle branch block, and susceptibility to ventricular tachyarrhythmia and sudden death. BrS is an electrical disorder without overt myocardial abnormalities." "OMIM:611875 OMIM:601144 MeSH:D053840 OMIM:611777 OMIM:611876 OMIM:612838 OMIM:613119 OMIM:613120 MedDRA:10059027 OMIM:616399 ICD10:I47.2 UMLS:C1142166 OMIM:613123"
@@ -10429,10 +10430,10 @@
"The maximum rate of gas flow, beginning at the point of peak inspiratory capacity, that can be sustained during forced exhalation for a defined period of time." "PMID:30804560 NCIt:C41372"
"Acute otitis media is a short and generally painful infection of the middle ear." "UMLS:C0271429 SNOMEDCT_US:3110003"
- "An epithelium that is part of a nasopharynx [Automatically generated definition]." "VHOG:0001038 EMAPA:17672 CALOHA:TS-0662 BTO:0004480 MA:0001865 EHDAA2:0001241 NCIT:C49263 UMLS:C1179157 FMA:62452 EHDAA:7090"
+ "An epithelium that is part of a nasopharynx [Automatically generated definition]." "VHOG:0001038 CALOHA:TS-0662 EMAPA:17672 BTO:0004480 MA:0001865 EHDAA2:0001241 NCIT:C49263 UMLS:C1179157 FMA:62452 EHDAA:7090"
"Alpha-thalassemia-myelodysplastic syndrome (ATMDS) is an acquired form of alpha-thalassemia (see this term) characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH; see these terms)." "OMIM:300448 ICD10:D46.7 ICD10:D56.0"
- "A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction." "MEDGEN:76097 UMLS:C0280328 SCTID:707427000 NCIT:C8188 DOID:3752"
+ "A well differentaited, non-metastasizing squamous cell carcinoma arising from the larynx. It is an exophytic, warty, and slow growing tumor affecting predominantly older men. It is associated with tobacco smoking. Symptoms include hoarseness, airway obstruction, weight loss, dysphagia, and throat pain. If left untreated, it may cause extensive local destruction." "UMLS:C0280328 SCTID:707427000 NCIT:C8188 DOID:3752 MEDGEN:76097"
"quantification of the volume of white matter in an infant's brain" "PMID:28763065"
"The amount of a protein FAM3C when measured in blood serum."
@@ -10563,6 +10564,7 @@
"human recurrent squamous cell carcinoma of the buccal mucosa of a Caucasian female (Sigma catalog number 04072103)"
"A mature contractile cell, commonly known as a myocyte. This cell has as part of its cytoplasm myofibrils organized in various patterns." "BTO:0000902 ZFA:0009114 WBbt:0003675 NCIt:C12612 BTO:0000888 NIFSTD:sao519252327 CALOHA:TS-2032 FBbt:00005074 FMA:67328"
+ "The Illumina NovaSeq X Plus is a high-throughput sequencing machine developed by Illumina."
"The amount of a spermatogenesis-associated protein 31D4 (human) when measured in blood serum."
"Quantification of ursodeoxycholate levels in a sample." "PMID:23823483"
@@ -11669,7 +11671,7 @@
"Systemic inflammatory response to infection." "UMLS:C0036690"
"An inherited susceptibility or predisposition to developing basal cell carcinoma."
- "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." "UMLS:C0024437 NCIT:C123330 DOID:4448 MONDO:0003004 MedDRA:10025409 MESH:D008268 MEDGEN:7434 SCTID:422338006"
+ "Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration." "UMLS:C0024437 NCIT:C123330 DOID:4448 MONDO:0003004 MESH:D008268 MEDGEN:7434 MedDRA:10025409 SCTID:422338006"
"A rare developmental defect of the eye characterized by usually bilateral absence of the normal protrusion of the cornea from the sclera, the corneal curvature being the same as that of the adjacent sclera. Most patients develop hyperopia, hazy corneal limbus, and arcus lipoides at an early age. The condition may present as an autosomal dominant or an autosomal recessive form, with the latter showing more severe signs and symptoms (such as a round and opaque thickening located centrally in the cornea) and more frequent association with other ocular anomalies." "HP:0007720 OMIMPS:121400 UMLS:C0344529 Orphanet:53691 GARD:16657 SCTID:204145006 DOID:0060287 MEDGEN:576329 ICD10CM:Q13.4"
@@ -12662,7 +12664,7 @@
"Am electroencephalogram measurement measures the wave-like oscillations of electric potential between parts of the brain." "MeSH:D058256"
"D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid." "OMIMPS:600721 Orphanet:79315 UMLS:C1833429 SCTID:237960000 GARD:5661 DOID:0050575 MEDGEN:322192"
"Nuclear complex containing subnuclei that give rise to the axons of the occulomotor nerve, both motor and parasympathetic fibers, situated at the midline at the level of the superior colliculus in the midbrain tegmentum (Brodal, Neurological Anatomy, 3rd ed., 1981, pg 533-534)." "EFO:0002468 MA:0001073 TAO:0000553 BM:MB-III EMAPA:35605 UMLS:C0228686 neuronames:492 EV:0100250 NCIT:C12897 MESH:D065838 SCTID:362457000 HBA:9030 MBA:35 DHBA:12198 Wikipedia:Nucleus_of_oculomotor_nerve BIRNLEX:1240 VHOG:0001389 ZFA:0000553 FMA:54510 XAO:0004389 BAMS:3 EHDAA2:0004211 BAMS:III"
- "Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY." "MESH:D006962 MEDGEN:9368 MedDRA:10020708 NCIT:C113335 UMLS:C0020503 NCIt:C113335 SNOMEDCT:91478007 SCTID:91478007 MONDO:0006964 DOID:12466 HP:0000867 MeSH:D006962"
+ "Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY." "MESH:D006962 MEDGEN:9368 NCIT:C113335 UMLS:C0020503 NCIt:C113335 SNOMEDCT:91478007 SCTID:91478007 MONDO:0006964 DOID:12466 HP:0000867 MedDRA:10020708 MeSH:D006962"
"Quantification of the volume of the frontal lobe of the brain." "PMID:31396565"
"Infection of the larynx by Corynebacterium diphtheriae." "MEDGEN:4336 NCIT:C34546 ICD9:032.3 SCTID:50215002 UMLS:C0012557"
@@ -13326,7 +13328,7 @@
"OMIM:618356 MEDGEN:1674767 UMLS:C5193049"
"icd11.foundation:679333287 GARD:20002 Orphanet:156252"
- "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA)" "MeSH:D020144 UMLS:C0751739 MEDGEN:148381 DOID:10991 MONDO:0006505 MESH:D020144"
+ "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA)" "MeSH:D020144 UMLS:C0751739 MEDGEN:148381 MONDO:0006505 DOID:10991 MESH:D020144"
"Quantification of palmitoyl-arachidonoyl-glycerophosphocholine (2) in a sample."
"A unit which is a standard measure of the flow of electric charge."
"A carcinoma that arises from epithelial cells of the exocrine pancreas" "SCTID:372142002 UMLS:C0235974 DOID:4905 OMIM:260350 NCIT:C3850 MONDO:0005192 EFO:0002618 MEDGEN:65917"
@@ -13726,7 +13728,7 @@
"OMIM:619083 UMLS:C5436771 GARD:18533 MEDGEN:1725056"
"A locally aggressive, diffusely infiltrating tumor, arising in the tendon sheath. It is composed of synovial-like mononuclear cells, hemosiderin-laden macrophages, foam cells, and inflammatory cells. Multinucleated osteoclast-like giant cells are usually present, although in a minority of cases they may be absent or rare. It predominantly affects young adults. Symptoms include joint swelling, pain, and joint effusion." "DOID:9898 NCIT:C3401 DOID:2702 ONCOTREE:TGCT GARD:7396 ICD9:719.20 NORD:1916 ICDO:9251/0 ICD9:719.28 UMLS:C0039106 ICD10CM:M12.2 Orphanet:66627 ICD9:719.2 MEDGEN:11691 MESH:D013586 SCTID:95412009"
"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 MeSH:D014383 MONDO:0006743 MEDGEN:52884"
+ "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 NCIT:C3080 ICD9:404.11 MEDGEN:9169 ICD9:428.0 MedDRA:10010684 DOID:6000 MONDO:0005009"
@@ -14955,7 +14957,7 @@
"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:4977 EHDAA:4985 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:4985 EHDAA:4977 EHDAA:4955 EHDAA:4963 EHDAA:8175 EHDAA:8225"
"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"
"UMLS:C0596227"
@@ -15621,7 +15623,7 @@
"MEDGEN:1673640 UMLS:C5193037 OMIM:618339"
"Quantification of retinoblastoma-like protein 1 in a sample." "PMID:29875488"
"MEDGEN:1673021 UMLS:C5191008 GARD:20947 Orphanet:268261"
- "local accumulation of fluid, plasma proteins, and leukocytes in the vagina" "SNOMEDCT:30800001 ICD10:N76 MedDRA:10046916 NCIt:C26911 MP:0003541 MedDRA:10046950 DOID:2170 MeSH:D014627"
+ "local accumulation of fluid, plasma proteins, and leukocytes in the vagina" "SNOMEDCT:30800001 ICD10:N76 MedDRA:10046916 NCIt:C26911 MP:0003541 MedDRA:10046950 MeSH:D014627 DOID:2170"
"Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing."
@@ -15696,7 +15698,7 @@
"Any of the light horny epidermal outgrowths that form the external covering of the body of birds and that consist of a shaft bearing on each side a series of barbs which bear barbules which in turn bear barbicels commonly ending in hooked hamuli and interlocking with the barbules of an adjacent barb to link the barbs into a continuous vane." "MAT:0000156 BTO:0000447"
"Infections of the nervous system caused by bacteria of the genus haemophilus, and marked by prominent inflammation of the meninges. haemophilus influenzae type B is the most common causative organism. The condition primarily affects children under 6 years of age but may occur in adults." "MedDRA:10018953 UMLS:C0025292 SNOMEDCT:5900006 MESH:D008583 SCTID:5900006 MONDO:0000889 MEDGEN:7535 ICD9:320.0 DOID:10803 DOID:0080179 MeSH:D008583 SCTID:192643004"
"Vessels run longitudinally along the horizontal myoseptum. These vessels are not functional until after lumenization which occurs near 4 dpf. Isogai et al. 2003." "ZFA:0005034"
- "A transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina." "ENVO:02000032 MA:0001286 ZFA:0005561 MESH:D014822 FMA:58822 NCIT:C13323 EV:0100344 VHOG:0000795 BTO:0001451 EMAPA:17837 UMLS:C0229096 Wikipedia:Vitreous_humour CALOHA:TS-0308"
+ "A transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina." "ENVO:02000032 MA:0001286 ZFA:0005561 FMA:58822 MESH:D014822 NCIT:C13323 EV:0100344 VHOG:0000795 BTO:0001451 EMAPA:17837 UMLS:C0229096 Wikipedia:Vitreous_humour CALOHA:TS-0308"
"The inflammation of one or more joints caused by a bacterial infection within the joint space. Symptoms include pain, stiffness, and decreased range of motion in the affected joint." "NCIt:C118475 UMLS:C1692886 MESH:D001170 DOID:813 MedDRA:10021904 NCIT:C26700 MeSH:D001170 ICD9:711.96 ICD9:711.92 UMLS:C3891815 ICD9:711.40 ICD9:711.95 ICD9:711.91 MEDGEN:308434 ICD10:M00 ICD9:711.97 ICD9:711.93 SCTID:48245008 MONDO:0004471 ICD9:711.9 MedDRA:10040057 NCIT:C26699 ICD9:711.94 ICD9:711.0 ICD9:711.90 NANDO:2200437"
"Quantification of the change in amygdala volume over time." "PMID:35383335"
@@ -16134,7 +16136,7 @@
"A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather." "ICD9:277.0 MeSH:D003550 DOID:1485 SNOMEDCT:190905008 OMIM:219700 ICD9:277.00 SNOMEDCT:190911006 NCIt:C2975"
"The amount of a Fos-related antigen 2 when measured in blood serum."
- "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." "UMLS:C1335518 MEDGEN:233356 EFO:1000498 NCIT:C5522 DOID:3252 MONDO:0006389"
+ "A malignant mesenchymal neoplasm with skeletal muscle differentiation affecting the prostate." "MONDO:0006389 UMLS:C1335518 MEDGEN:233356 EFO:1000498 NCIT:C5522 DOID:3252"
"Any of six small voluntary muscles that pass between the eyeball and the orbit and control the movement of the eyeball in relation to the orbit." "BTO:0001579 FMA:49033"
"a benign rare chronic inflammatory disorder. Its primary symptoms are subdermal lesions in the head or neck or painless unilateral inflammation of cervical lymph nodes." "Orphanet:482 GARD:6835 MESH:D000796 Wikipedia:Kimura's_disease MESH:D000082242 MEDGEN:46183 NCIT:C26867 UMLS:C0033838 DOID:7365 MedDRA:10048640 MONDO:0018830"
"Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective)." "SNOMEDCT_US:275478007 UMLS:C1855285 UMLS:C1305420"
@@ -16257,7 +16259,7 @@
"quantification of some aspect of sleep quality, such as number of awakenings during a sleep interval or time taken to get to sleep. Sleep quality can be evaluated either through self-reporting, observation in a sleep lab or using a sleep monitoring device" "NCIt:C121705"
"The amount of a membrane-associated progesterone receptor component 1 when measured in blood serum."
"OMIM:173650"
- "A malignant neoplasm involving the pancreas." "NCIT:C9005 OMIM:618680 ICD9:157.2 ICD9:157.0 ICD9:157.8 ICD9:157.1 MONDO:0009831 DOID:1793 NCIt:C9005"
+ "A malignant neoplasm involving the pancreas." "NCIT:C9005 OMIM:618680 ICD9:157.2 ICD9:157.0 ICD9:157.8 MONDO:0009831 ICD9:157.1 DOID:1793 NCIt:C9005"
"Quantification of protocadherin beta-4 in a sample." "PMID:29875488"
"An event that has caused the permanent cessation of all vital functions; the end of life. Can be applied to a whole organism or to a part of an organism."
@@ -16390,7 +16392,7 @@
"SNOMEDCT:64840009 MeSH:D001413"
"a rare condition in which there are small firm warty or pearly papules on the sides of the hands and feet. They were first described by Costa in 1953, hence are sometimes referred to as Costa’s acrokeratoelastoidosis. Acrokeratoelastoidosis is considered a form of punctate palmoplantar keratoderma." "MESH:C535653 MONDO:0007047 Orphanet:38 UMLS:C0545044 MEDGEN:107467 DOID:0060362 GARD:125 OMIM:101850"
"DOID:0081156 UMLS:C4540380 MEDGEN:1614928 OMIM:617765"
- "A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." "EFO:1000336 NCIT:C45540 ICD9:162.9 ONCOTREE:SARCL MEDGEN:353871 UMLS:C1708781 MONDO:0006279 SCTID:707460002 DOID:0080777"
+ "A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor." "DOID:0080777 EFO:1000336 NCIT:C45540 ICD9:162.9 ONCOTREE:SARCL MEDGEN:353871 UMLS:C1708781 MONDO:0006279 SCTID:707460002"
"ICD10:D55.2"
"A benign tumor consisting of vascular and smooth muscle elements." "NCIt:C3747 DOID:4265 SNOMEDCT:86959002 MeSH:D018229"
"SNOMEDCT:227105000"
@@ -19108,7 +19110,7 @@
"The amount of a protein FAM3A when measured in blood serum."
"The amount of a E3 ubiquitin-protein ligase RNF146 when measured in blood serum."
- "The thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone." "MA:0000118 Wikipedia:Adrenal_cortex VHOG:0001481 XAO:0000165 CALOHA:TS-0015 BTO:0000045 MESH:D000302 MAT:0000494 UMLS:C0001613 AAO:0011009 EV:0100136 SCTID:362584002 EMAPA:18427 NCIT:C12396 EFO:0000237 FMA:15632 GAID:447"
+ "The thick outer layer of the adrenal gland that produces and secretes steroid hormones such as corticosterone, estrone and aldosterone." "MA:0000118 Wikipedia:Adrenal_cortex VHOG:0001481 XAO:0000165 CALOHA:TS-0015 BTO:0000045 MESH:D000302 MAT:0000494 UMLS:C0001613 AAO:0011009 EV:0100136 SCTID:362584002 EMAPA:18427 NCIT:C12396 EFO:0000237 GAID:447 FMA:15632"
"Quantification of antibodies to the Epstein-Barr virus viral capsid antigen, typically in serum." "PMID:29868224"
"A pervasive developmental disorder that is a neurological and developmental disorder that mostly occurs in females and is caused_by a mutation on the MECP2 gene on the X chromosome. Infants with Rett syndrome seem to grow and develop normally at first, but then stop developing and even lose skills and abilities." "OMIM:312750 MeSH:D015518 NIFSTD:birnlex_12770 DOID:1206 SNOMEDCT:68618008"
@@ -19970,7 +19972,7 @@