brachydactyly-syndactyly syndrome

Summary

DOID:0050689 - brachydactyly-syndactyly syndrome

Disease Ontology Definition:A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: hoxd13

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012544 - brachydactyly-syndactyly syndrome

MONDO:0012544 - brachydactyly-syndactyly syndrome

MIM:

MIM:610713 - BRACHYDACTYLY-SYNDACTYLY SYNDROME; BDSD

MIM:610713 - BRACHYDACTYLY-SYNDACTYLY SYNDROME; BDSD

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), autosomal genetic disease (is_a), syndrome (is_a)