Asphyxiating Thoracic Dystrophy
Disease ID: disease_node_15722
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q77.2, MIM:PS208500, ORDO:474 |
|---|---|
| Subclassof | DOID_0080006 |
| Data Source | DOID |
| Synonyms | Jeune syndrome, short-rib thoracic dysplasia with or without polydactyly, thoracic pelvic phalangeal dystrophy |
| Disease Has Location | UBERON_0002228 |
| Doid Label | asphyxiating thoracic dystrophy |
| Doid Description | A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. OMIM mapping confirmed by DO. [SN]. |
| Has Phenotype | HP_0000773, HP_0005257 |
| Disease Node Id | disease_node_15722 |
| Doid Id | DOID_0050592 |
| Label | Asphyxiating Thoracic Dystrophy |
- Incoming r'ship
SUBCLASS_OFto/from Short-Rib Thoracic Dysplasia 18 With Polydactyly(ID:disease_node_15736) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly(ID:disease_node_15723) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly(ID:disease_node_15727) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly(ID:disease_node_15735) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Short-Rib Thoracic Dysplasia 14 With Polydactyly(ID:disease_node_15724) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly(ID:disease_node_15728) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly(ID:disease_node_15729) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly(ID:disease_node_15726) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly(ID:disease_node_15730) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly(ID:disease_node_15725) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Asphyxiating Thoracic Dystrophy 1(ID:disease_node_15734) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Asphyxiating Thoracic Dystrophy 5(ID:disease_node_15731) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Asphyxiating Thoracic Dystrophy 4(ID:disease_node_15732) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Bone Development Disease(ID:disease_node_15615) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Asphyxiating Thoracic Dystrophy 3(ID:disease_node_15733) (Disease)