| Metadata | |
|---|---|
| ID | DOID:1930 |
| Name | Laurence-Moon syndrome |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/25480986 |
| Xrefs |
MEDDRA:10056710 SNOMEDCT_US_2023_03_01:232059000 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Laurence-Moon-Biedl syndrome [RELATED] LNMS [EXACT] |
| Parent Relationships |
is_a syndrome |