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DO Term : asphyxiating thoracic dystrophy 4 [DOID:0110088] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.

synonyms:
613819,
OMIM:613819,
short-rib thoracic dysplasia 4 with or without polydactyly,
SRTD4,
ICD10CM:Q77.2,
ATD4

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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