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DO Term : brachydactyly type E2 [DOID:0110976] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p.
  • synonyms:
  • OMIM:613382,
  • BDE2,
  • 613382
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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