Laurence-Moon Syndrome
Disease ID: disease_node_4594
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| Dbxref | GARD:12635, MEDDRA:10056710, MESH:D007849, MIM:245800, NCI:C34760, ORDO:2377, SNOMEDCT_US_2023_03_01:232059000, UMLS_CUI:C0023138 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID, MESH |
| Synonyms | LNMS, Laurence-Moon-Biedl syndrome |
| Mesh Id | D007849 |
| Mesh Label | Laurence-Moon Syndrome |
| Mesh Subclassof | D000015, D007027 |
| Doid Label | Laurence-Moon syndrome |
| Doid Description | A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_4594 |
| Doid Id | DOID_1930 |
| Label | Laurence-Moon 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)