Bardet-Biedl Syndrome
Disease ID: disease_node_10716
Connections displayed (default: 10).
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| Dbxref | GARD:6866, ICD10CM:Q87.89, MESH:D020788, MIM:PS209900, NCI:C118632, ORDO:110, SNOMEDCT_US_2023_03_01:5619004, UMLS_CUI:C0752166 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID, MESH |
| Mesh Id | D020788 |
| Mesh Label | Bardet-Biedl Syndrome |
| Mesh Subclassof | D000072661, D012174, D007027 |
| Doid Label | Bardet-Biedl syndrome |
| Doid Description | A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_10716 |
| Doid Id | DOID_1935 |
| Label | Bardet-Biedl Syndrome |
- Incoming r'ship
SUBCLASS_OFto/from Bardet-Biedl Syndrome 16(ID:disease_node_20216) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Bardet-Biedl Syndrome 20(ID:disease_node_20221) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Bardet-Biedl Syndrome 22(ID:disease_node_20219) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Bardet-Biedl Syndrome 15(ID:disease_node_20217) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Bardet-Biedl Syndrome 19(ID:disease_node_20213) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Bardet-Biedl Syndrome 17(ID:disease_node_20215) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Bardet-Biedl Syndrome 21(ID:disease_node_20220) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Bardet-Biedl Syndrome 18(ID:disease_node_20214) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Bardet-Biedl Syndrome 5(ID:disease_node_20218) (Disease)