Sjogren-Larsson Syndrome
Disease ID: disease_node_8580
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| Dbxref | GARD:7654, MESH:D016111, MIM:270200, NCI:C85070, ORDO:816, SNOMEDCT_US_2023_03_01:111303009, UMLS_CUI:C0037231 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | FALDH deficiency, SLS, Sjogren Larsson syndrome, Sjogren-Larsson's syndrome, fatty acid alcohol oxidoreductase deficiency |
| Mesh Id | D016111 |
| Mesh Label | Sjogren-Larsson Syndrome |
| Mesh Subclassof | D008064, D012873, D007057 |
| Doid Label | Sjogren-Larsson syndrome |
| Doid Description | A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11. OMIM mapping confirmed by DO. [LS]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_8580 |
| Doid Id | DOID_14501 |
| Label | Sjogren-Larsson Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)