Terminology Service for NFDI4Health

brachydactyly type D

Go to external page http://purl.obolibrary.org/obo/DOID_0110971


A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

brachydactyly type D

Synonyms
  • BDD
database cross reference
has obo namespace

disease_ontology

id

DOID:0110971