Laurence-Moon syndrome
Information
- Disease name
- Laurence-Moon syndrome
- Disease ID
- DOID:1930
- 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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/25480986]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:12635
- Cross Reference ID (Disease Ontology)
- MEDDRA:10056710
- Cross Reference ID (Disease Ontology)
- MESH:D007849
- Cross Reference ID (Disease Ontology)
- MIM:245800
- Cross Reference ID (Disease Ontology)
- NCI:C34760
- Cross Reference ID (Disease Ontology)
- ORDO:2377
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:232059000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0023138
- Exact Synonym (Disease Ontology)
- LNMS
- Disase Synonym (Disease Ontology)
- Laurence-Moon-Biedl syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 2377
- MeSH unique ID (MeSH (Medical Subject Headings))
- D007849