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DO Term : preaxial polydactyly II [DOID:0060986] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36.
  • synonyms:
  • GARD:5289,
  • OMIM:174500,
  • ORDO:93336,
  • polydactyly of a triphalangeal thumb,
  • 174500
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents