proximal symphalangism
autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness
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proximal symphalangism
Summary
proximal symphalangism is a rare disease[1].
Key Facts
- proximal symphalangism's instance of is recorded as rare disease[2].
- proximal symphalangism's instance of is recorded as class of disease[3].
- proximal symphalangism's subclass of is recorded as autosomal dominant disease[4].
- proximal symphalangism's subclass of is recorded as syndactyly[5].
- proximal symphalangism's subclass of is recorded as syndrome[6].
- proximal symphalangism's MeSH descriptor ID is recorded as C536223[7].
- proximal symphalangism's OMIM ID is recorded as 185800[8].
- proximal symphalangism's KEGG ID is recorded as H00851[9].
- proximal symphalangism's Disease Ontology ID is recorded as DOID:0050788[10].
- proximal symphalangism's Orphanet ID is recorded as 3250[11].
- proximal symphalangism's genetic association is recorded as NOG[12].
- proximal symphalangism's genetic association is recorded as GDF5[13].
- proximal symphalangism's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0050788[14].
- proximal symphalangism's exact match is recorded as http://identifiers.org/doid/DOID:0050788[15].
- proximal symphalangism's exact match is recorded as http://purl.obolibrary.org/obo/HP_0100264[16].
- proximal symphalangism's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_3250[17].
- proximal symphalangism's UMLS CUI is recorded as C3714899[18].
- proximal symphalangism's UMLS CUI is recorded as C1861385[19].
- proximal symphalangism's Human Phenotype Ontology ID is recorded as HP:0100264[20].
- proximal symphalangism's ICD-10-CM is recorded as Q70.9[21].
- proximal symphalangism's GARD rare disease ID is recorded as 8182[22].
- proximal symphalangism's on focus list of Wikimedia project is recorded as WikiProject Medicine[23].
- proximal symphalangism's Mondo ID is recorded as MONDO_0008511[24].
- proximal symphalangism's UniProt disease ID is recorded as DI-02350[25].