loading...| Preferred Name |
asphyxiating thoracic dystrophy |
|
| Synonyms |
thoracic pelvic phalangeal dystrophy |
|
| Definitions |
OMIM mapping confirmed by DO. [SN]. A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0050592 |
|
| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
OMIM:PS208500 ICD10CM:Q77.2 ORDO:474 |
|
| definition |
A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. |
|
| has_exact_synonym |
thoracic pelvic phalangeal dystrophy short-rib thoracic dysplasia with or without polydactyly Jeune syndrome |
|
| has_obo_namespace |
disease_ontology |
|
| IAO_0000115 |
A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. |
|
| id |
DOID:0050592 |
|
| label |
asphyxiating thoracic dystrophy |
|
| notation |
DOID:0050592 |
|
| prefLabel |
asphyxiating thoracic dystrophy |
|
| subClassOf |