| 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 | |
| Subclass Logical Relationships |
disease has location some rib has phenotype some (Short ribs and Thoracic hypoplasia) |