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DO Term : asphyxiating thoracic dystrophy 2 [DOID:0110086] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25.

synonyms:
SRTD2,
ATD2,
611263,
short-rib thoracic dysplasia 2 with or without polydactyly,
MESH:C566982,
ICD10CM:Q77.2,
OMIM:611263

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

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