From a77416096e7bde5af1a17f848a8a662878b242bd Mon Sep 17 00:00:00 2001 From: Sue Bello Date: Thu, 7 Sep 2023 14:31:06 -0400 Subject: [PATCH] adding mapped phenotypes for CHARGE syndrome Adding MP-HP mappings for phenotypes related to CHARGE syndrome. Phenotypes come from both HPO human phenotypes and from MGI mouse models. --- mappings/mp_hp_mgi_all.sssom.tsv | 363 +++++++++++++++++++++++++++++++ 1 file changed, 363 insertions(+) diff --git a/mappings/mp_hp_mgi_all.sssom.tsv b/mappings/mp_hp_mgi_all.sssom.tsv index 4e17170..797205d 100644 --- a/mappings/mp_hp_mgi_all.sssom.tsv +++ b/mappings/mp_hp_mgi_all.sssom.tsv @@ -1000,3 +1000,366 @@ HP:0100716 Self-injurious behavior skos:narrowMatch 1 MP:0005655 increased aggre HP:0100864 Short femoral neck skos:exactMatch 1 MP:0030793 short femur neck semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CdL4 HP:0100874 Thick hair skos:narrowMatch 1 MP:0002073 abnormal hair growth semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CdL3 HP:0200055 Small hand skos:narrowMatch 1 MP:0000572 abnormal autopod morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 "CdL, CDL2, 3, 5 | ticket #3781" +HP:0011454 Abnormality of the malleus skos:exactMatch 0.9 MP:0000029 abnormal malleus morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-02 Chd7| HPO term does not specify morphology in definition or eq but lives on the morphology branch so I called this exact +HP:0000375 Abnormal cochlea morphology skos:exactMatch 1 MP:0000031 abnormal cochlea morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-02 Chd7 +HP:0011376 Morphological abnormality of the vestibule of the inner ear skos:exactMatch 1 MP:0000034 abnormal inner ear vestibule morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-02 Chd7 +HP:0011390 Morphological abnormality of the inner ear skos:broadMatch 1 MP:0000039 abnormal otic capsule morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-02 Chd7 +HP:0001627 Abnormal heart morphology skos:broadMatch 1 MP:0000267 abnormal heart development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-04 Chd7 +HP:0001713 Abnormal cardiac ventricle morphology skos:broadMatch 1 MP:0000280 thin ventricular wall semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-04 Chd7 +HP:0001627 Abnormal heart morphology skos:broadMatch 1 MP:0000297 abnormal atrioventricular cushion morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-04 Chd7 +HP:0031377 Abnormal cell proliferation skos:broadMatch 1 MP:0000352 decreased cell proliferation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-04 Chd7 +HP:0000234 Abnormality of the head skos:exactMatch 0.9 MP:0000428 abnormal craniofacial morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-04 CHARGE model not Chd7| some uncertainty based on differences in children but I think these are more likely oversites then intended differences +HP:0000271 Abnormality of the face skos:broadMatch 1 MP:0000446 long snout semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-04 Chd7 +HP:0030966 Abnormal pulmonary artery morphology skos:broadMatch 1 MP:0000486 abnormal pulmonary trunk morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-04 Chd7 +HP:0002814 Abnormality of the lower limb skos:exactMatch 1 MP:0000556 abnormal hindlimb morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-04 Chd7| ticket #3803 +HP:0000778 Hypoplasia of the thymus skos:closeMatch 0.9 MP:0000706 small thymus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-04 "Chd7| HPO uses hypoplasia and small as synonyms, MP distinguishes between these but I think the majority of the time MP small = HP hypoplasia" +HP:0001273 Abnormal corpus callosum morphology skos:exactMatch 1 MP:0000780 abnormal corpus callosum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-04 Chd7 +HP:0100547 Abnormal forebrain morphology skos:broadMatch 1 MP:0000787 abnormal telencephalon morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 +HP:0002060 Abnormal cerebral morphology skos:narrowMatch 1 MP:0000787 abnormal telencephalon morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 "Chd7| HPO uses telencephalon as a synonym of cerebrum but the MP has this defined as 'consists of the paired cerebral hemispheres and olfactory bulbs, the basal ganglia and the connecting structure'" +HP:0002060 Abnormal cerebral morphology skos:broadMatch 1 MP:0000794 abnormal parietal lobe morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 +HP:0002538 Abnormal cerebral cortex morphology skos:broadMatch 1 MP:0000798 abnormal frontal lobe morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 +HP:0007333 Hypoplasia of the frontal lobes skos:narrowMatch 1 MP:0000798 abnormal frontal lobe morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 +HP:0025100 Abnormal hippocampus morphology skos:exactMatch 1 MP:0000807 abnormal hippocampus morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 +HP:0025100 Abnormal hippocampus morphology skos:broadMatch 1 MP:0000809 absent hippocampus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 +HP:0025057 Abnormality of olfactory lobe morphology skos:exactMatch 1 MP:0000819 abnormal olfactory bulb morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 +HP:0006956 Lateral ventricle dilatation skos:exactMatch 1 MP:0000825 dilated lateral ventricle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 +HP:0007082 Dilated third ventricle skos:exactMatch 1 MP:0000827 dilated third ventricle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 +HP:0001317 Abnormal cerebellum morphology skos:broadMatch 1 MP:0000857 abnormal cerebellar foliation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 +HP:0001317 Abnormal cerebellum morphology skos:broadMatch 1 MP:0000877 abnormal Purkinje cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 +HP:0001317 Abnormal cerebellum morphology skos:broadMatch 1 MP:0000880 decreased Purkinje cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 +HP:0012443 Abnormality of brain morphology skos:broadMatch 1 MP:0000913 abnormal brain development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 Chd7 +HP:0030769 Exencephaly skos:closeMatch 0.8 MP:0000914 exencephaly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-16 "CHARGE model not Chd7| need to discuss, MP has this under brain development and defined as ""neurocranial defects resulting in exposure or extrusion of the brain"" HPO has under neural tube defects and defined as ""A malformation of the neural tube with a large amount of protruding brain tissue and absence of calvarium.""" +HP:0100547 Abnormal forebrain morphology skos:broadMatch 1 MP:0000934 abnormal telencephalon development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0100705 Abnormal glial cell morphology skos:broadMatch 0.8 MP:0000952 abnormal CNS glial cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 "Chd7| calling this broad based on the text and eq, but based on location in the HPO these would be exact" +HP:0100705 Abnormal glial cell morphology skos:broadMatch 1 MP:0000953 abnormal oligodendrocyte morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0012639 Abnormal nervous system morphology skos:broadMatch 1 MP:0000968 abnormal sensory neuron innervation pattern semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0001291 Abnormal cranial nerve morphology skos:exactMatch 1 MP:0001056 abnormal cranial nerve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0010827 Abnormality of the seventh cranial nerve skos:closeMatch 0.9 MP:0001071 abnormal facial nerve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 CHARGE model not Chd7 +HP:0001291 Abnormal cranial nerve morphology skos:broadMatch 1 MP:0001074 abnormal vagus nerve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0410016 Abnormal cranial ganglion morphology skos:broadMatch 1 MP:0001092 abnormal trigeminal ganglion morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0008724 Hypoplasia of the ovary skos:closeMatch 1 MP:0001127 small ovary semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0031065 Abnormal ovarian morphology skos:broadMatch 1 MP:0001129 impaired ovarian folliculogenesis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0000022 Abnormal male internal genitalia morphology skos:broadMatch 1 MP:0001157 small seminal vesicle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 CHARGE model not Chd7 +HP:0012372 Abnormal eye morphology skos:broadMatch 1 MP:0001286 abnormal eye development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0012376 Microphakia skos:exactMatch 1 MP:0001306 small lens semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7| MP puts spherophakia under small lens but HPO has this as a sibling +HP:0000615 Abnormal pupil morphology skos:exactMatch 0.9 MP:0001317 abnormal pupil morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7| label is morphology but definition is less specific +HP:0012433 Abnormal social behavior skos:broadMatch 1 MP:0001386 abnormal maternal nurturing semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0100022 Abnormality of movement skos:broadMatch 1 MP:0001388 abnormal stationary movement semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:5200069 Spinning skos:relatedMatch 0.9 MP:0001395 bidirectional circling semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 Chd7 +HP:0002275 Poor motor coordination skos:exactMatch 0.9 MP:0001405 impaired coordination semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 "Chd7| MP term lives under behavior HPO is under nervous system, most of the MP annotations are for balance related assays while the HPO term has a child of fine motor coordination which may result in some mismatch between the terms in practice" +HP:0002457 Abnormal head movements skos:broadMatch 1 MP:0001410 head bobbing semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0002071 Abnormality of extrapyramidal motor function skos:broadMatch 0.9 MP:0001489 decreased startle reflex semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7| mapping based primarily on the HPO term being a parent of Exaggerated startle response +HP:0025403 Stooped posture skos:relatedMatch 0.9 MP:0001512 trunk curl semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0011443 Abnormality of coordination skos:exactMatch 1 MP:0001516 abnormal motor coordination/balance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0007015 Poor gross motor coordination skos:broadMatch 1 MP:0001522 impaired swimming semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0002275 Poor motor coordination skos:broadMatch 1 MP:0001523 impaired righting response semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0011443 Abnormality of coordination skos:broadMatch 1 MP:0001526 abnormal placing response semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0012379 Abnormal circulating enzyme concentration or activity skos:broadMatch 1 MP:0001570 abnormal circulating enzyme level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0033353 Abnormal blood vessel morphology skos:exactMatch 1 MP:0001614 abnormal blood vessel morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 CHARGE model not Chd7 +HP:0000969 Edema skos:exactMatch 1 MP:0001785 edema semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0000388 Otitis media skos:relatedMatch 1 MP:0001850 increased susceptibility to otitis media semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0000509 Conjunctivitis skos:exactMatch 1 MP:0001852 conjunctivitis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0011029 Internal hemorrhage skos:narrowMatch 1 MP:0001914 hemorrhage semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0000144 Decreased fertility skos:broadMatch 1 MP:0001921 reduced fertility semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7| MP has infertility as a sibling of reduced fertility but HP has infertility as a child making these not exact matches +HP:0012041 Decreased fertility in males skos:broadMatch 1 MP:0001922 reduced male fertility semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0000868 Decreased fertility in females skos:broadMatch 1 MP:0001923 reduced female fertility semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0000140 Abnormality of the menstrual cycle skos:relatedMatch 1 MP:0001927 abnormal estrous cycle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0008734 Decreased testicular size skos:broadMatch 1 MP:0001940 testis hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0010829 Impaired temperature sensation skos:relatedMatch 1 MP:0001973 increased thermal nociceptive threshold semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0004408 Abnormality of the sense of smell skos:narrowMatch 1 MP:0001983 abnormal olfactory system physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0012639 Abnormal nervous system morphology skos:broadMatch 1 MP:0002184 abnormal innervation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0030681 Abnormal morphology of myocardial trabeculae skos:exactMatch 1 MP:0002189 abnormal myocardial trabeculae morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-17 Chd7 +HP:0000035 Abnormal testis morphology skos:broadMatch 1 MP:0002216 abnormal seminiferous tubule morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0005288 Abnormal nostril morphology skos:broadMatch 1 MP:0002236 abnormal internal nares morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0033151 Abnormal pharynx morphology skos:broadMatch 1 MP:0002252 abnormal oropharynx morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 CHARGE model not Chd7 +HP:0011380 Morphological abnormality of the semicircular canal skos:exactMatch 1 MP:0002428 abnormal semicircular canal morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0000375 Abnormal cochlea morphology skos:broadMatch 1 MP:0002622 abnormal cochlear hair cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0001660 Truncus arteriosus skos:exactMatch 1 MP:0002633 persistent truncus arteriosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 CHARGE model not Chd7 +HP:0000823 Delayed puberty skos:relatedMatch 1 MP:0002636 delayed vaginal opening semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0012153 Hypotriglyceridemia skos:exactMatch 1 MP:0002644 decreased circulating triglyceride level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0001637 Abnormal myocardium morphology skos:broadMatch 1 MP:0002652 thin myocardium semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0010948 Abnormal fetal cardiovascular morphology skos:broadMatch 1 MP:0002672 abnormal pharyngeal arch artery morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0000823 Delayed puberty skos:relatedMatch 1 MP:0002683 delayed fertility semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0040299 Decreased circulating free fatty acid level skos:exactMatch 1 MP:0002702 decreased circulating free fatty acids level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0040216 Hypoinsulinemia skos:exactMatch 1 MP:0002727 decreased circulating insulin level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0002457 Abnormal head movements skos:broadMatch 1 MP:0002730 head shaking semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0040326 Hypoplasia of the olfactory bulb skos:closeMatch 1 MP:0002741 small olfactory bulb semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0002762 ectopic cerebellar granule cells semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0030344 Decreased circulating luteinizing hormone level skos:exactMatch 1 MP:0002773 decreased circulating luteinizing hormone level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0030341 Decreased circulating follicle stimulating hormone concentration skos:exactMatch 1 MP:0002790 decreased circulating follicle stimulating hormone level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0001640 Cardiomegaly skos:broadMatch 1 MP:0002833 increased heart weight semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 CHARGE model not Chd7 +HP:0040107 Morphological abnormality of the posterior semicircular canal skos:exactMatch 1 MP:0002858 abnormal posterior semicircular canal morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0011384 Abnormality of the internal auditory canal skos:broadMatch 1 MP:0002859 abnormal inner ear canal fusion semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0012379 Abnormal circulating enzyme concentration or activity skos:broadMatch 1 MP:0002942 decreased circulating alanine transaminase level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0000089 Renal hypoplasia skos:closeMatch 1 MP:0002989 small kidney semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 CHARGE model not Chd7 +HP:0010517 Ectopic thymus tissue skos:exactMatch 1 MP:0003007 ectopic thymus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0040108 Morphological abnormality of the anterior semicircular canal skos:exactMatch 1 MP:0003069 abnormal superior semicircular canal morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0000055 Abnormality of female external genitalia skos:exactMatch 0.9 MP:0003126 abnormal external female genitalia morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0000375 Abnormal cochlea morphology skos:broadMatch 1 MP:0003148 decreased cochlear coiling semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0040106 Morphological abnormality of the lateral semicircular canal skos:broadMatch 1 MP:0003161 absent lateral semicircular canal semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0011381 Aplasia of the semicircular canal skos:broadMatch 1 MP:0003161 absent lateral semicircular canal semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0040106 Morphological abnormality of the lateral semicircular canal skos:broadMatch 1 MP:0003162 decreased lateral semicircular canal size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0011381 Aplasia of the semicircular canal skos:broadMatch 1 MP:0003163 absent posterior semicircular canal semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0040107 Morphological abnormality of the posterior semicircular canal skos:broadMatch 1 MP:0003163 absent posterior semicircular canal semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0040107 Morphological abnormality of the posterior semicircular canal skos:broadMatch 1 MP:0003164 decreased posterior semicircular canal size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0040108 Morphological abnormality of the anterior semicircular canal skos:broadMatch 1 MP:0003166 decreased superior semicircular canal size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0002529 Neuronal loss in central nervous system skos:relatedMatch 1 MP:0003203 increased neuron apoptosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:4000056 Abnormal apoptosis skos:broadMatch 1 MP:0003222 increased cardiomyocyte apoptosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0040115 Abnormal Eustachian tube morphology skos:exactMatch 1 MP:0003330 abnormal auditory tube morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0031251 Abnormal subclavian artery morphology skos:exactMatch 1 MP:0003395 abnormal subclavian artery morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0031794 Decreased circulating glycerol level skos:exactMatch 1 MP:0003442 decreased circulating glycerol level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0032466 Aplasia of the olfactory bulb skos:closeMatch 1 MP:0003451 absent olfactory bulb semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0410016 Abnormal cranial ganglion morphology skos:broadMatch 1 MP:0003703 abnormal vestibulocochlear ganglion morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0003103 Abnormal cortical bone morphology skos:exactMatch 1 MP:0003797 abnormal compact bone morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0031703 Abnormal ear morphology skos:broadMatch 1 MP:0003938 abnormal ear development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0003119 Abnormal circulating lipid concentration skos:exactMatch 1 MP:0003949 abnormal circulating lipid level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0001511 Intrauterine growth retardation skos:broadMatch 1 MP:0003984 embryonic growth retardation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0033334 Abnormal embryonic development skos:broadMatch 1 MP:0004188 delayed embryo turning semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-22 Chd7 +HP:0011380 Morphological abnormality of the semicircular canal skos:broadMatch 1 MP:0004249 abnormal crista ampullaris morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0410043 Abnormal neural tube morphology skos:broadMatch 1 MP:0004261 abnormal embryonic neuroepithelium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0012372 Abnormal eye morphology skos:broadMatch 1 MP:0004269 abnormal optic cup morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0008628 Abnormality of the stapes skos:broadMatch 1 MP:0004290 abnormal stapes footplate morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0000359 Abnormality of the inner ear skos:broadMatch 1 MP:0004310 small otic vesicle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0030999 Abnormal vestibular saccule morphology skos:broadMatch 1 MP:0004315 absent vestibular saccule semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0040109 Morphological abnormality of the utricle skos:broadMatch 1 MP:0004369 absent utricle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0000375 Abnormal cochlea morphology skos:broadMatch 1 MP:0004395 increased cochlear inner hair cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0000375 Abnormal cochlea morphology skos:broadMatch 1 MP:0004401 increased cochlear outer hair cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0011380 Morphological abnormality of the semicircular canal skos:broadMatch 1 MP:0004409 abnormal crista ampullaris neuroepithelium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0011389 Functional abnormality of the inner ear skos:broadMatch 1 MP:0004413 absent cochlear microphonics semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0011389 Functional abnormality of the inner ear skos:broadMatch 1 MP:0004417 decreased cochlear nerve compound action potential semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0040100 Abnormality of the vestibular window skos:exactMatch 1 MP:0004479 abnormal oval window morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0040099 Abnormality of the round window skos:exactMatch 1 MP:0004480 abnormal round window morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:3000047 Abnormal glossopharyngeal nerve morphology skos:broadMatch 1 MP:0004568 fusion of glossopharyngeal and vagus nerve semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0030305 Decreased number of vertebrae skos:broadMatch 1 MP:0004647 decreased lumbar vertebrae number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0011392 Abnormality of the vestibular nerve skos:exactMatch 0.9 MP:0004718 abnormal vestibular nerve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7| some doubt as the HPO term lacks a definition +HP:0011389 Functional abnormality of the inner ear skos:broadMatch 1 MP:0004736 abnormal distortion product otoacoustic emission semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0011389 Functional abnormality of the inner ear skos:broadMatch 1 MP:0004737 absent distortion product otoacoustic emissions semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0004811 abnormal neuron physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0008734 Decreased testicular size skos:broadMatch 1 MP:0004852 decreased testis weight semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0008724 Hypoplasia of the ovary skos:broadMatch 1 MP:0004856 decreased ovary weight semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0000362 Otosclerosis skos:exactMatch 1 MP:0004897 otosclerosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0011380 Morphological abnormality of the semicircular canal skos:broadMatch 1 MP:0004922 abnormal common crus morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0000364 Hearing abnormality skos:broadMatch 1 MP:0004925 decreased susceptibility to noise-induced hearing loss semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0004452 Abnormality of the middle ear ossicles skos:exactMatch 0.9 MP:0005105 abnormal middle ear ossicle morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7| some uncertainty as the HPO term while on the morphology branch does not specify morphology in the definition +HP:0011453 Abnormality of the incus skos:exactMatch 0.9 MP:0005106 abnormal incus morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7| some uncertainty as the HPO term while on the morphology branch does not specify morphology in the definition +HP:0005599 Hypopigmentation of hair skos:broadMatch 1 MP:0005171 absent coat pigmentation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 CHARGE model not Chd7 +HP:0003146 Hypocholesterolemia skos:exactMatch 1 MP:0005179 decreased circulating cholesterol level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0002457 Abnormal head movements skos:broadMatch 1 MP:0005191 head tilt semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0045025 Narrow palpebral fissure skos:exactMatch 1 MP:0005287 narrow eye opening semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-23 Chd7 +HP:0001952 Glucose intolerance skos:narrowMatch 1 MP:0005291 abnormal glucose tolerance semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7|while this has the synonym 'abnormal glucose tolerance' the MP term has both improved and impaired children so this is not an exact match +HP:0002457 Abnormal head movements skos:broadMatch 1 MP:0005307 head tossing semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7 +HP:0002457 Abnormality of metabolism/homeostasis skos:narrowMatch 0.9 MP:0005376 homeostasis/metabolism phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 "Chd7|some uncertainty due to differences in child terms, narrow since MP is not explicity abnormal" +HP:0000598 Abnormality of the ear skos:narrowMatch 1 MP:0005377 hearing/vestibular/ear phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7 +HP:0000818 Abnormality of the endocrine system skos:narrowMatch 1 MP:0005379 endocrine/exocrine gland phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7 +HP:0001197 Abnormality of prenatal development or birth skos:closeMatch 0.9 MP:0005380 embryo phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7 +HP:0011446 Abnormality of higher mental function skos:narrowMatch 1 MP:0005386 behavior/neurological phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7 +HP:0000478 Abnormality of the eye skos:narrowMatch 1 MP:0005391 vision/eye phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7 +HP:0010876 Abnormal circulating protein concentration skos:exactMatch 1 MP:0005416 abnormal circulating protein level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7 +HP:0041079 Decreased body fat percentage skos:exactMatch 1 MP:0005459 decreased percent body fat/body weight semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7 +HP:0000517 Abnormal lens morphology skos:broadMatch 1 MP:0005545 abnormal lens development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-24 Chd7 +HP:0003075 Hypoproteinemia skos:closeMatch 0.9 MP:0005567 decreased circulating total protein level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-29 Chd7|called close as looking this up it seems like HPO terms is all proteins but the definition is not entirely clear +HP:0002900 Hypokalemia skos:closeMatch 0.9 MP:0005628 decreased circulating potassium level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-29 Chd7|MP has a seperate term for Hypokalemia that is a child of this term and one for erythrocyte levels specifically +HP:0012379 Abnormal circulating enzyme concentration or activity skos:broadMatch 1 MP:0005632 decreased circulating aspartate transaminase level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-29 Chd7 +HP:0012285 Abnormal hypothalamus physiology skos:exactMatch 1 MP:0005645 abnormal hypothalamus physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-29 Chd7 +HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0005646 abnormal pituitary gland physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-29 Chd7 +HP:0012245 Sex reversal skos:exactMatch 1 MP:0005652 sex reversal semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 CHARGE model not Chd7 +HP:0031703 Abnormal ear morphology skos:broadMatch 1 MP:0006030 abnormal otic vesicle development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:4000056 Abnormal apoptosis skos:broadMatch 1 MP:0006042 increased apoptosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 CHARGE model not Chd7 +HP:4000056 Abnormal apoptosis skos:broadMatch 1 MP:0006043 decreased apoptosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0006092 abnormal olfactory sensory neuron morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0011297 Abnormal digit morphology skos:broadMatch 1 MP:0006280 abnormal digit development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0012372 Abnormal eye morphology skos:broadMatch 1 MP:0006305 abnormal optic eminence morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0010948 Abnormal fetal cardiovascular morphology skos:broadMatch 1 MP:0006354 abnormal fourth pharyngeal arch artery morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0010948 Abnormal fetal cardiovascular morphology skos:broadMatch 1 MP:0006355 abnormal sixth pharyngeal arch artery morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0003111 Abnormal blood ion concentration skos:narrowMatch 1 MP:0006357 abnormal circulating mineral level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0005930 Abnormal epiphysis morphology skos:broadMatch 1 MP:0006396 decreased long bone epiphyseal plate size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0040218 Reduced natural killer cell count skos:broadMatch 1 MP:0008039 increased NK T cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0011376 Morphological abnormality of the vestibule of the inner ear skos:broadMatch 1 MP:0008066 small endolymphatic duct semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0025517 Hypoplastic hippocampus skos:narrowMatch 1 MP:0008283 small hippocampus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0011454 Abnormality of the malleus skos:broadMatch 1 MP:0008374 abnormal malleus manubrium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0000479 Abnormal retinal morphology skos:broadMatch 1 MP:0008446 decreased retina cone cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0000479 Abnormal retinal morphology skos:broadMatch 1 MP:0008449 abnormal retina cone cell outer segment morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0000479 Abnormal retinal morphology skos:broadMatch 1 MP:0008456 abnormal retina rod cell outer segment morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0007082 Dilated third ventricle skos:exactMatch 0.9 MP:0008536 enlarged third ventricle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 "Chd7| some uncertainty as the MP has a separate term for dilated third ventricle but the definition of the HP term is ""An increase in size of the third ventricle"" so I think these are exact matches" +HP:0002538 Abnormal cerebral cortex morphology skos:broadMatch 1 MP:0008547 abnormal neocortex morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0031295 Left atrial enlargement skos:narrowMatch 1 MP:0008725 enlarged heart atrium semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 CHARGE model not Chd7 +HP:0030718 Right atrial enlargement skos:narrowMatch 1 MP:0008725 enlarged heart atrium semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 +HP:0005105 Abnormal nasal morphology skos:broadMatch 1 MP:0008789 abnormal olfactory epithelium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0002149 Hyperuricemia skos:exactMatch 1 MP:0008821 increased blood uric acid level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0007485 Absence of subcutaneous fat skos:exactMatch 1 MP:0008843 absent subcutaneous adipose tissue semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 CHARGE model not Chd7 +HP:0003758 Reduced subcutaneous adipose tissue skos:exactMatch 1 MP:0008844 decreased subcutaneous adipose tissue amount semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 CHARGE model not Chd7 +HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0008917 abnormal oligodendrocyte physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0008924 decreased cerebellar granule cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0008946 abnormal neuron number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0008947 increased neuron number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0008948 decreased neuron number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0002795 Abnormal respiratory system physiology skos:broadMatch 1 MP:0008963 increased carbon dioxide production semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0012569 Delayed menarche skos:relatedMatch 1 MP:0009008 delayed estrous cycle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0034967 Uterine cyst skos:exactMatch 1 MP:0009082 uterus cyst semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 CHARGE model not Chd7 +HP:0031105 Abnormal uterus morphology skos:broadMatch 1 MP:0009085 abnormal uterine horn morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 Chd7 +HP:0040298 Hyperplasia of the endometrium skos:exactMatch 1 MP:0009092 endometrium hyperplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-30 CHARGE model not Chd7 +HP:0040254 Decreased size of the clitoris skos:broadMatch 1 MP:0009101 clitoris hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-31 Chd7 +HP:0011751 Abnormal posterior pituitary morphogenesis skos:closeMatch 0.8 MP:0009229 abnormal neurohypophysis median eminence morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-31 "Chd7| uncertainty as the HPO term label is morphogenesis which implies development but the definition is just generic abnormality so there is a possibility that this could include both morphology and physiology, term potentially could be narrower or broader than the MP term" +HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0009267 abnormal cerebellum fissure morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-31 Chd7 +HP:0001871 Abnormality of blood and blood-forming tissues skos:broadMatch 1 MP:0009278 abnormal bone marrow cell physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-31 Chd7 +HP:0100705 Abnormal glial cell morphology skos:broadMatch 1 MP:0009808 decreased oligodendrocyte number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-31 Chd7 +HP:0000175 Cleft palate skos:closeMatch 0.8 MP:0009890 cleft secondary palate semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-31 "Chd7| uncertainty as the HPO term just specifies palate in general but the eq uses secondary palate, calling these close instead of exact due to this uncertainty" +HP:0010808 Protruding tongue skos:closeMatch 1 MP:0009908 protruding tongue semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-31 CHARGE model not Chd7| MP specifies 'beyond oral cavity' HPO ' beyond the alveolar ridges or teeth at rest' so I called these close +HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0009937 abnormal neuron differentiation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0025057 Abnormality of olfactory lobe morphology skos:exactMatch 1 MP:0009944 abnormal olfactory lobe morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0002334 Abnormal cerebellar vermis morphology skos:broadMatch 1 MP:0009957 abnormal cerebellum vermis lobule morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0009959 abnormal cerebellar hemisphere morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0009963 abnormal cerebellum hemisphere lobule morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0009991 abnormal cerebellum vermis lobule IV morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0013616 decreased volumetric bone mineral density semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0009992 abnormal cerebellum vermis lobule IX morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0009993 abnormal cerebellum vermis lobule V morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0009996 abnormal cerebellum vermis lobule VIII morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0031422 Abnormal cerebellar cortex morphology skos:relatedMatch 0.9 MP:0010005 abnormal lobule simplex morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7| this structure does not exist in humans so calling this related rather than broad +HP:0041079 Decreased body fat percentage skos:relatedMatch 1 MP:0010025 decreased total body fat amount semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0012754 CNS hypermyelination skos:narrowMatch 1 MP:0010050 hypermyelination semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0030173 Peripheral hypermyelination skos:narrowMatch 1 MP:0010050 hypermyelination semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0003690 Limb muscle weakness skos:relatedMatch 1 MP:0010053 decreased grip strength semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0040326 Hypoplasia of the olfactory bulb skos:exactMatch 0.9 MP:0010059 olfactory bulb hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 "Chd7|uncertainty and noise due to difference in definition and use of hypoplasia in the two ontologies, often used in HPO as synonymous with 'small'" +HP:0001877 Abnormal erythrocyte morphology skos:broadMatch 1 MP:0010068 decreased red blood cell distribution width semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7|HPO term has the child increased width but no term for decreased width +HP:0002917 Hypomagnesemia skos:exactMatch 1 MP:0010093 decreased circulating magnesium level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0004370 Abnormality of temperature regulation skos:broadMatch 1 MP:0010165 abnormal response to stress-induced hyperthermia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0010205 abnormal oligodendrocyte apoptosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0010979 Abnormality of lipoprotein cholesterol concentration skos:narrowMatch 1 MP:0010330 abnormal circulating lipoprotein level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0011555 Double inlet left ventricle skos:exactMatch 1 MP:0010433 double inlet heart left ventricle semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0002624 Abnormal venous morphology skos:broadMatch 1 MP:0010453 abnormal coronary vein morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0001660 Truncus arteriosus skos:narrowMatch 1 MP:0010454 abnormal truncus arteriosus septation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0011604 Aortopulmonary window skos:exactMatch 1 MP:0010455 aortopulmonary window semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0012305 Coarctation of the descending aortic arch skos:narrowMatch 1 MP:0010526 aortic arch coarctation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0001713 Abnormal cardiac ventricle morphology skos:broadMatch 1 MP:0010556 thin ventricle myocardium compact layer semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0006705 Abnormal atrioventricular valve morphology skos:broadMatch 1 MP:0010607 common atrioventricular valve semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0000480 Retinal coloboma skos:exactMatch 0.9 MP:0010715 retina coloboma semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 CHARGE model not Chd7| uncertainty as MP specifies this is congential and the HPO does not +HP:0002752 Sparse bone trabeculae skos:relatedMatch 0.8 MP:0010869 decreased bone trabecula number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 "Chd7| HPO term lacks a definition but eq uses PATO sparse - defined as 'scattered; spread irregularly, and at a distance from each other' so it seems to me that these are related but not close or exact" +HP:0030313 Abnormal periosteum morphology skos:broadMatch 1 MP:0010973 increased periosteum thickness semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0003811 Neonatal lethal skos:relatedMatch 1 MP:0011089 "perinatal lethality, complete penetrance" semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0034241 Prenatal death skos:relatedMatch 1 MP:0011092 "embryonic lethality, complete penetrance" semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0034241 Prenatal death skos:relatedMatch 1 MP:0011098 "embryonic lethality during organogenesis, complete penetrance" semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0034241 Prenatal death skos:relatedMatch 1 MP:0011099 "lethality throughout fetal growth and development, complete penetrance" semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 CHARGE model not Chd7 +HP:0034241 Prenatal death skos:relatedMatch 1 MP:0011108 "embryonic lethality during organogenesis, incomplete penetrance" semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0034241 Prenatal death skos:relatedMatch 1 MP:0011109 "lethality throughout fetal growth and development, incomplete penetrance" semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0005105 Abnormal nasal morphology skos:broadMatch 1 MP:0011281 abnormal olfactory epithelium cilium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0034190 Abnormal fetal cardiovascular physiology skos:broadMatch 1 MP:0011390 abnormal fetal cardiomyocyte physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0034190 Abnormal fetal cardiovascular physiology skos:broadMatch 1 MP:0011395 decreased fetal cardiomyocyte proliferation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0011420 Age of death skos:relatedMatch 1 MP:0011400 "lethality, complete penetrance" semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0011613 Interrupted aortic arch type B skos:exactMatch 1 MP:0011659 "interrupted aortic arch, type b" semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0012447 Abnormal myelination skos:broadMatch 1 MP:0011731 decreased myelin sheath thickness semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0000240 Abnormality of skull size skos:broadMatch 1 MP:0011861 increased cranium height semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0004463 Absent brainstem auditory responses skos:narrowMatch 1 MP:0011967 increased or absent threshold for auditory brainstem response semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0012638 Abnormal nervous system physiology skos:broadMatch 1 MP:0012020 abnormal olfactory epithelium physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0012203 abnormal neuronal stem cell morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0031422 Abnormal cerebellar cortex morphology skos:broadMatch 1 MP:0012451 abnormal retrosplenial granular cortex morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0012502 Abnormality of the internal capsule skos:broadMatch 1 MP:0012462 decreased brain internal capsule size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0010662 Abnormality of the diencephalon skos:broadMatch 1 MP:0012481 increased habenula size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-01 Chd7 +HP:0045005 Neural tube defect skos:broadMatch 1 MP:0012703 decreased embryonic neuroepithelium thickness semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0430021 Abnormal common carotid artery morphology skos:exactMatch 1 MP:0012729 abnormal common carotid artery morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0033334 Abnormal embryonic development skos:broadMatch 1 MP:0012741 decreased neural crest cell proliferation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 CHARGE model not Chd7 +HP:0033334 Abnormal embryonic development skos:broadMatch 1 MP:0012744 increased neural crest cell apoptosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 CHARGE model not Chd7 +HP:0011747 Abnormality of the anterior pituitary skos:broadMatch 1 MP:0013350 Rathke's pouch hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0003429 CNS hypomyelination skos:narrowMatch 1 MP:0013438 dysmyelination semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0007182 Peripheral hypomyelination skos:narrowMatch 1 MP:0013438 dysmyelination semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 +HP:0001097 Keratoconjunctivitis sicca skos:closeMatch 0.8 MP:0013466 keratoconjunctivitis sicca semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 "Chd7| uncertainty as the MP term is defined as inflamation caused by eye dryness which, in turn, is caused by either decreased tear production or increased tear film evaporation while the HPO term is defined as eye dryness with no mention of inflammation" +HP:0031066 Abnormal ovarian physiology skos:broadMatch 1 MP:0013508 increased granulosa cell apoptosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0003103 Abnormal cortical bone morphology skos:broadMatch 1 MP:0013624 decreased femur compact bone thickness semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0100671 Abnormal trabecular bone morphology skos:broadMatch 1 MP:0013630 increased bone trabecular spacing semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0000174 Abnormal palate morphology skos:broadMatch 1 MP:0013767 decreased palatal rugae number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0012372 Abnormal eye morphology skos:broadMatch 1 MP:0013820 absent optic cup semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0041079 Decreased body fat percentage skos:relatedMatch 1 MP:0014143 decreased body fat mass semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0004349 Reduced bone mineral density skos:broadMatch 1 MP:0020010 decreased bone mineral density of femur semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 CHARGE model not Chd7 +HP:0004349 Reduced bone mineral density skos:relatedMatch 1 MP:0020137 decreased bone mineralization semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0012757 Abnormal neuron morphology skos:broadMatch 1 MP:0020348 decreased olfactory sensory neuron number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0008609 Morphological abnormality of the middle ear skos:broadMatch 1 MP:0020900 abnormal middle ear epithelium morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0008609 Morphological abnormality of the middle ear skos:broadMatch 1 MP:0020903 increased middle ear goblet cell number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0004349 Reduced bone mineral density skos:broadMatch 1 MP:0021184 decreased bone mineral density of humerus semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 CHARGE model not Chd7 +HP:0005561 Abnormality of bone marrow cell morphology skos:broadMatch 1 MP:0030009 increased bone marrow adipose tissue amount semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0000321 Square face skos:exactMatch 1 MP:0030073 square face semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 CHARGE model not Chd7 +HP:0001367 Abnormal joint morphology skos:broadMatch 1 MP:0030109 abnormal incudomalleolar joint morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0008628 Abnormality of the stapes skos:broadMatch 1 MP:0030127 small stapes semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0011453 Abnormality of the incus skos:broadMatch 1 MP:0030394 abnormal incus short process morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0011453 Abnormality of the incus skos:broadMatch 1 MP:0030396 abnormal incus long process morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0008628 Abnormality of the stapes skos:broadMatch 1 MP:0030402 abnormal stapes head morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0008628 Abnormality of the stapes skos:broadMatch 1 MP:0030405 small stapes obturator foramen semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0008628 Abnormality of the stapes skos:broadMatch 1 MP:0030407 abnormal stapes crus morpholgy semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0040099 Abnormality of the round window skos:broadMatch 1 MP:0030411 decreased round window size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-05 Chd7 +HP:0011912 Abnormality of the glenoid fossa skos:exactMatch 0.9 MP:0030831 abnormal glenoid fossa morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-06 Chd7| uncertainty since the term label and definition do not specify 'morphology' but placement is on the morphology branch +HP:0010948 Abnormal fetal cardiovascular morphology skos:broadMatch 1 MP:0030992 atrioventricular cushion hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-06 Chd7 +HP:0031065 Abnormal ovarian morphology skos:broadMatch 0.8 MP:0031239 increased atretic ovarian follicle number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-06 "Chd7| the only ovarian follicle number terms in HPO are for antral follicles and are under physiology, MP puts these under morphology and has many more count terms. I've chosen the morphology term in HPO in keeping with the MP placement" +HP:0003307 Hyperlordosis skos:narrowMatch 0.9 MP:0031253 lordokyphosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-06 CHARGE model not Chd7| some uncertainty as the definition in MP does not specify spinal location while the HP definition does +HP:0002808 Kyphosis skos:narrowMatch 0.9 MP:0031253 lordokyphosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-06 CHARGE model not Chd7| some uncertainty as the definition in MP does not specify spinal location while the HP definition does +HP:0031065 Abnormal ovarian morphology skos:broadMatch 0.8 MP:0031381 decreased secondary ovarian follicle number semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-06 "Chd7| the only ovarian follicle number terms in HPO are for antral follicles and are under physiology, MP puts these under morphology and has many more count terms. I've chosen the morphology term in HPO in keeping with the MP placement" +HP:0000752 Hyperactivity skos:broadMatch 1 MP:0031391 increased locomotor activity semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-09-06 Chd7 +HP:0000394 Lop ear skos:narrowMatch 1 MP:0000022 abnormal ear shape semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE +HP:0011381 Aplasia of the semicircular canal skos:exactMatch 1 MP:0000036 absent semicircular canals semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE +HP:0000772 Abnormal rib morphology skos:exactMatch 1 MP:0000150 abnormal rib morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE | note the HPO definition is broader 'An anomaly of the rib' than just morphology but based on placement I'm calling these exact +HP:0002623 Overriding aorta skos:exactMatch 1 MP:0000273 overriding aortic valve semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0000160 Narrow mouth skos:narrowMatch 1 MP:0000452 abnormal mouth morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CHARGE | ticket #3790 +HP:0003974 Absent radius skos:exactMatch 0.9 MP:0000553 absent radius semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 "CHARGE| the MP term is somewhat ambiguous in definition, typically we mean absent as total absence which would be closer to the HPO term Bilateral radial aplasia but the MP does not have a term for decreased radius number and there is at least one case where unilateral absence has been annotated to the absent term" +HP:0002992 Abnormality of tibia morphology skos:exactMatch 1 MP:0000558 abnormal tibia morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0010443 Bifid femur skos:narrowMatch 1 MP:0000559 abnormal femur morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0001018 Abnormal palmar dermatoglyphics skos:narrowMatch 1 MP:0000572 abnormal autopod morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE +HP:0000834 Abnormality of the adrenal glands skos:broadMatch 1 MP:0000639 abnormal adrenal gland morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE +HP:0010515 Aplasia/Hypoplasia of the thymus skos:broadMatch 1 MP:0000705 athymia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-20 CHARGE +HP:0001305 Dandy-Walker malformation skos:narrowMatch 0.9 MP:0000849 abnormal cerebellum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE | some uncertainty since the malformation involves more than just the cerebellum but the HPO definition and placement indicate the cerebellum cyst is the key part +HP:0001291 Abnormal cranial nerve morphology skos:exactMatch 1 MP:0001056 abnormal cranial nerve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0000625 Eyelid coloboma skos:narrowMatch 1 MP:0001340 abnormal eyelid morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE +HP:0011968 Feeding difficulties skos:narrowMatch 0.9 MP:0001431 abnormal eating behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE| the MP has this under behavior while the HPO term is under digestive system/abdominal symptoms suggesting there may be some difference in the intent of these terms +HP:0010978 Abnormality of immune system physiology skos:exactMatch 1 MP:0001790 abnormal immune system physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE +HP:0010515 Aplasia/Hypoplasia of the thymus skos:broadMatch 1 MP:0001823 thymus hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-20 CHARGE +HP:0002093 Respiratory insufficiency skos:narrowMatch 1 MP:0001943 abnormal respiration semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE | HPO term lacks a text definition based on child terms I went up to abnormal respiration to cover all children; ticket #3794 +HP:0000504 Abnormality of vision skos:exactMatch 1 MP:0002090 abnormal vision semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE | ticket #3791 +HP:0008572 External ear malformation skos:narrowMatch 1 MP:0002177 abnormal outer ear morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0011382 Hypoplasia of the semicircular canal skos:narrowMatch 1 MP:0002428 abnormal semicircular canal morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE +HP:0000742 Self-mutilation skos:narrowMatch 1 MP:0002572 abnormal emotion/affect behavior semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE | mapping based on parents of HPO term +HP:0000347 Micrognathia skos:narrowMatch 1 MP:0002639 micrognathia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 "CHARGE | MP def 'abnormally reduced size of the jaws, especially of the mandible' HPO term is defined as 'Developmental hypoplasia of the mandible' thus despite sharing the same label the MP term is broader than the HPO term" +HP:0009556 Absent tibia skos:exactMatch 1 MP:0002728 absent tibia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0000834 Abnormality of the adrenal glands skos:broadMatch 1 MP:0002909 abnormal adrenal gland physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE +HP:0002410 Aqueductal stenosis skos:exactMatch 1 MP:0002958 cerebral aqueductal stenosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0003241 External genital hypoplasia skos:relatedMatch 1 MP:0003126 abnormal external female genitalia morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 +HP:0100736 Abnormal soft palate morphology skos:exactMatch 0.9 MP:0003154 abnormal soft palate morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE| presence of the child term 'Velopharyngeal insufficiency' causes some uncertainty as this seems more like a physiology term +HP:0011382 Hypoplasia of the semicircular canal skos:broadMatch 1 MP:0003162 decreased lateral semicircular canal size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE +HP:0011382 Hypoplasia of the semicircular canal skos:broadMatch 1 MP:0003164 decreased posterior semicircular canal size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE +HP:0011382 Hypoplasia of the semicircular canal skos:broadMatch 1 MP:0003166 decreased superior semicircular canal size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE +HP:0002139 Arrhinencephaly skos:narrowMatch 1 MP:0003232 abnormal forebrain development semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 "CHARGE | HPO term lacks definition, based on Googling the definition seems to be the absence of the olfactory bulbs and tracts, this would suggest this should not be a child of anencephaly - HPO ticket #9918" +HP:0000830 Anterior hypopituitarism skos:exactMatch 0.9 MP:0003348 hypopituitarism semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 "CHARGE | MP defines this ""reduction or cessation of secretion of one or more hormones from the anterior pituitary gland"" HPO defines this as 'condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones' Note HPO has a separate term for hypopituitarism that has anterior hypo.. as a child but this term is a child of Abnormality of the anterior pituitary and lacks a definition so I'm not sure what the distinction between the two HPO terms. This is another case where the MP has this under physiology and HPO has it under morphology, hence the uncertainty " +HP:0008213 Gonadotropin deficiency skos:narrowMatch 1 MP:0003348 hypopituitarism semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0008213 Gonadotropin deficiency skos:relatedMatch 1 MP:0003363 decreased circulating gonadotropin level semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE | the HPO term is defined in terms of secretion thus the MP term about level is related since lowered secretion could cause the lower level +HP:0000829 Hypoparathyroidism skos:closeMatch 0.9 MP:0003433 decreased activity of parathyroid semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 "CHARGE | MP defines this as reduced function of the parathyroid gland, HPO defines this as deficiency of parathyroid hormone; there is potential for subtle distinction but I think these are very close " +HP:0002139 Arrhinencephaly skos:relatedMatch 1 MP:0003451 absent olfactory bulb semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0000860 Parathyroid hypoplasia skos:exactMatch 1 MP:0003494 parathyroid hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE +HP:0000066 Labial hypoplasia skos:closeMatch 0.9 MP:0003513 small labia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CHARGE +HP:0009906 Aplasia/Hypoplasia of the earlobes skos:broadMatch 1 MP:0003678 absent ear lobes semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0009906 Aplasia/Hypoplasia of the earlobes skos:broadMatch 1 MP:0003679 ear lobe hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0004058 Hand monodactyly skos:narrowMatch 1 MP:0003800 monodactyly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0001561 Polyhydramnios skos:exactMatch 1 MP:0004020 polyhydramnios semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0001360 Holoprosencephaly skos:exactMatch 1 MP:0005157 holoprosencephaly semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0000567 Chorioretinal coloboma skos:narrowMatch 1 MP:0005262 coloboma semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE +HP:0000589 Coloboma skos:exactMatch 1 MP:0005262 coloboma semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE +HP:0000272 Malar flattening skos:narrowMatch 1 MP:0005270 abnormal zygomatic bone morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CHARGE +HP:0000478 Abnormality of the eye skos:narrowMatch 1 MP:0005391 vision/eye phenotype semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE | the MP term is also used for unexpected 'normal' eye phenotypes +HP:0000044 Hypogonadotropic hypogonadism skos:narrowMatch 1 MP:0005647 abnormal sex gland physiology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CHARGE | ticket #3778 +HP:0001671 Abnormal cardiac septum morphology skos:exactMatch 1 MP:0006113 abnormal heart septum morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 "CHARGE| add synonym, note MP has a child term for aorticopulmonary septum that by the text definition seems like it might not fit but based on the UBERON terms is considered a cardiac septum, both MP and HP use caridac septum in the EQ" +HP:0000410 Mixed hearing impairment skos:exactMatch 1 MP:0006327 mixed hearing impairment semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE | probably worth reviewing the hearing loss annotations as I suspect we may have annotations made to both sensineural and conductive rahter than to mixed +HP:0002025 Anal stenosis skos:exactMatch 1 MP:0009052 anal stenosis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0003241 External genital hypoplasia skos:broadMatch 1 MP:0009203 external male genitalia hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0000008 Abnormal morphology of female internal genitalia skos:exactMatch 1 MP:0009209 abnormal internal female genitalia morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-17 CHARGE +HP:0004935 Pulmonary artery atresia skos:closeMatch 1 MP:0010521 absent pulmonary artery semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0005113 Aortic arch aneurysm skos:narrowMatch 1 MP:0010575 aortic arch dilation semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0030732 Dysplastic tricuspid valve skos:narrowMatch 1 MP:0002624 abnormal tricuspid valve morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 "CHARGE| the HPO term is defined as ""A congenital malformation of the tricuspid valve characterized by leaflet deformation"" and the MP cusp term has 'leaflet' as a synonym. But the HPO term has a long note that specifies the different types of dysplasia some that involve more than the leaflets so I've backed this off to the parent MP term of tricuspid valve" +HP:0000612 Iris coloboma skos:exactMatch 1 MP:0010714 iris coloboma semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE +HP:0000480 Retinal coloboma skos:exactMatch 1 MP:0010715 retina coloboma semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE +HP:0009778 Short thumb skos:narrowMatch 1 MP:0010772 abnormal pollex morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0000632 Lacrimation abnormality skos:exactMatch 1 MP:0020218 abnormal tear production semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE +HP:0001270 Motor delay skos:narrowMatch 1 MP:0021165 behavioral developmental delay semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE | ticket #3792 +HP:0005280 Depressed nasal bridge skos:exactMatch 1 MP:0030034 depressed nasal bridge semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0000275 Narrow face skos:narrowMatch 1 MP:0030071 abnormal face shape semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE +HP:0000321 Square face skos:exactMatch 1 MP:0030073 square face semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-18 CHARGE +HP:0010669 Hypoplasia of the zygomatic bone skos:exactMatch 1 MP:0030112 zygomatic bone hypoplasia semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-20 CHARGE +HP:0010628 Facial palsy skos:relatedMatch 1 MP:0030141 facial paralysis semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-20 CHARGE +HP:0010751 Dimple chin skos:narrowMatch 1 MP:0030243 abnormal chin morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE +HP:0200021 Down-sloping shoulders skos:relatedMatch 1 MP:0030816 abnormal shoulder joint morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-08-01 CHARGE +HP:0003048 Radial head subluxation skos:narrowMatch 1 MP:0030882 abnormal radius head morphology semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE +HP:0003022 Hypoplasia of the ulna skos:closeMatch 1 MP:0030900 decreased ulna size semapv:ManualMappingCuration orcid:0000-0003-4606-0597 2023-07-19 CHARGE \ No newline at end of file