A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. [ http://purl.obolibrary.org/obo/ECO_0007637 ]

Synonyms: short-rib thoracic dysplasia with or without polydactyly thoracic pelvic phalangeal dystrophy Jeune syndrome

This is just here as a test because I lose it

Term information

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:0050592

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