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DO Term : short-rib thoracic dysplasia 13 with or without polydactyly [DOID:0110093] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23.

synonyms:
SRTD13,
OMIM:616300,
ICD10CM:Q77.2,
616300

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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