brachydactyly type B1
brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has material basis in heterozygous mutation in the ROR2 gene on chromosome 9q22
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brachydactyly type B1
Summary
brachydactyly type B1 is a rare disease[1].
Key Facts
- brachydactyly type B1's instance of is recorded as rare disease[2].
- brachydactyly type B1's instance of is recorded as class of disease[3].
- brachydactyly type B1's subclass of is recorded as brachydactyly[4].
- brachydactyly type B1's OMIM ID is recorded as 113000[5].
- brachydactyly type B1's Disease Ontology ID is recorded as DOID:0110969[6].
- brachydactyly type B1's Orphanet ID is recorded as 572385[7].
- brachydactyly type B1's genetic association is recorded as ROR2[8].
- brachydactyly type B1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110969[9].
- brachydactyly type B1's exact match is recorded as http://identifiers.org/doid/DOID:0110969[10].
- brachydactyly type B1's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_93383[11].
- brachydactyly type B1's UMLS CUI is recorded as C1862112[12].
- brachydactyly type B1's GARD rare disease ID is recorded as 985[13].
- brachydactyly type B1's on focus list of Wikimedia project is recorded as WikiProject Medicine[14].
- brachydactyly type B1's Mondo ID is recorded as MONDO_0007220[15].
- brachydactyly type B1's UniProt disease ID is recorded as DI-00196[16].