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Metadata
DOID DOID:0050592
Name asphyxiating thoracic dystrophy
Definition An autosomal recessive 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
Synonyms

Jeune syndrome [EXACT]

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

thoracic pelvic phalangeal dystrophy [EXACT]

Xrefs

ICD10CM:Q77.2

OMIM:PS208500

ORDO:474

Relationships

is_a autosomal recessive disease

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