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DO Term : brachydactyly type C [DOID:0110970] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • UMLS_CUI:C1300268,
  • BDC,
  • GARD:986,
  • SNOMEDCT_US_2023_03_01:389169005,
  • UMLS_CUI:C1862103,
  • OMIM:113100,
  • 113100,
  • ORDO:93384,
  • MESH:C537093
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Ontology Term --> Direct parents