brachydactyly type E2
characterized byautosomal dominant inheritance of short stature, tooth abnormaities, and short metacarpals and metatarsals that has material basis in heterozygous mutation in the PTHLH gene on chromosome 12p
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brachydactyly type E2
Summary
brachydactyly type E2 is a rare disease[1].
Key Facts
- brachydactyly type E2's instance of is recorded as rare disease[2].
- brachydactyly type E2's instance of is recorded as class of disease[3].
- brachydactyly type E2's subclass of is recorded as brachydactyly[4].
- brachydactyly type E2's subclass of is recorded as brachydactyly type E[5].
- brachydactyly type E2's OMIM ID is recorded as 613382[6].
- brachydactyly type E2's OMIM ID is recorded as 613382[7].
- brachydactyly type E2's Disease Ontology ID is recorded as DOID:0110976[8].
- brachydactyly type E2's genetic association is recorded as PTHLH[9].
- brachydactyly type E2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110976[10].
- brachydactyly type E2's exact match is recorded as http://identifiers.org/doid/DOID:0110976[11].
- brachydactyly type E2's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_93387[12].
- brachydactyly type E2's UMLS CUI is recorded as C3150644[13].
- brachydactyly type E2's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- brachydactyly type E2's Mondo ID is recorded as MONDO_0013244[15].
- brachydactyly type E2's UniProt disease ID is recorded as DI-02711[16].