Terminology Service for NFDI4Health

brachydactyly type C

Go to external page http://purl.obolibrary.org/obo/DOID_0110970


A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

brachydactyly type C

Synonyms
  • BDC
database cross reference
has obo namespace

disease_ontology

id

DOID:0110970