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Metadata
ID DOID:0050592
Name asphyxiating thoracic dystrophy
Definition A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.
https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy
Xrefs

ICD10CM:Q77.2

OMIM:PS208500

ORDO:474

Synonyms

Jeune syndrome [EXACT]

short-rib thoracic dysplasia with or without polydactyly [EXACT]

thoracic pelvic phalangeal dystrophy [EXACT]

Parent Relationships

is_a bone development disease

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