Alstrom Syndrome
Disease ID: disease_node_12291
Connections displayed (default: 10).
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| Dbxref | MESH:D056769, MIM:203800, NCI:C84549, SNOMEDCT_US_2023_03_01:63702009, UMLS_CUI:C0268425 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID, MESH |
| Mesh Id | D056769 |
| Mesh Label | Alstrom Syndrome |
| Mesh Subclassof | D000072661, D015417, D012174 |
| Doid Label | Alstrom syndrome |
| Doid Description | A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. OMIM mapping confirmed by DO. [SN]. |
| Has Symptom | SYMP_0000008 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_12291 |
| Doid Id | DOID_0050473 |
| Label | Alstrom Syndrome |
- Outgoing r'ship
HAS_SYMPTOMto/from Blindness(ID:disease_node_1616;disease_node_19993) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)