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Disease Ontology Browser
asphyxiating thoracic dystrophy (DOID:0050592)
Alliance: disease page
Synonyms: Jeune syndrome; short-rib thoracic dysplasia with or without polydactyly; thoracic pelvic phalangeal dystrophy
Alt IDs: ICD10CM:Q77.2, OMIM:PS208500, ORDO:474
Definition: A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.

Disease References using Mouse Models (6)

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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last database update
05/24/2023
MGI 6.22
The Jackson Laboratory