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 | |
Subsets |
DO_rare_slim |
Synonyms |
Jeune syndrome [EXACT] short-rib thoracic dysplasia with or without polydactyly [EXACT] thoracic pelvic phalangeal dystrophy [EXACT] |
Parent Relationships |