Branchio-Oto-Renal Syndrome
Disease ID: disease_node_9904
Connections displayed (default: 10).
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| Dbxref | GARD:10147, MEDDRA:10071135, MESH:D019280, NCI:C98983, SNOMEDCT_US_2023_03_01:290006, UMLS_CUI:C0265234 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID, MESH |
| Synonyms | Branchio-Oto-renal syndrome, Branchio-otorenal dysplasia, Melnick-Fraser syndrome, branchiootorenal dysplasia |
| Mesh Id | D019280 |
| Mesh Label | Branchio-Oto-Renal Syndrome |
| Mesh Subclassof | D000015, D025063 |
| Doid Label | branchiootorenal syndrome |
| Doid Description | A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_9904 |
| Doid Id | DOID_14702 |
| Label | Branchio-Oto-Renal Syndrome |
- Incoming r'ship
SUBCLASS_OFto/from Branchiootorenal Syndrome 2(ID:disease_node_19989) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Branchiootorenal Syndrome 1(ID:disease_node_19990) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)