asphyxiating thoracic dystrophy 5 Disease Ontology Browser

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Disease Ontology Browser

asphyxiating thoracic dystrophy 5 (DOID:0110089)
Alliance: disease page
Synonyms: ATD5; short-rib thoracic dysplasia 5 with or without polydactyly; SRTD5
Alt IDs: OMIM:614376, ICD10CM:Q77.2
Definition: An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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