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

Wikidata entity: Q32145418



P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2293 genetic association ... Q14897652 (ROR2) ROR2
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q112193867 (class of disease) class of disease
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
P279 subclass of ... Q896643 (brachydactyly) brachydactyly

External Ids
P699Disease Ontology IDDOID:0110969
P4317GARD rare disease ID985
P5270Mondo IDMONDO_0007220
P492OMIM ID113000
P492OMIM ID113000
P1550Orphanet ID572385
P2892UMLS CUIC1862112
P11430UniProt disease IDDI-00196

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log id: 5309396