Terminology Service for NFDI4Health
brachydactyly-syndactyly syndrome
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http://purl.obolibrary.org/obo/DOID_0050689
A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. [ http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
Label
brachydactyly-syndactyly syndrome
comment
OMIM mapping confirmed by DO. [SN].
created by
snadendla
creation date
2011-06-17T03:55:47Z
has obo namespace
disease_ontology
id
DOID:0050689