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DO Term : preaxial polydactyly I [DOID:0060987] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13.
  • synonyms:
  • ORDO:93339,
  • OMIM:174400,
  • 174400,
  • GARD:4417
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents