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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

GARD:12635

MEDDRA:10056710

MESH:D007849

NCI:C34760

OMIM:245800

ORDO:2377

SNOMEDCT_US_2023_03_01:232059000

UMLS_CUI:C0023138

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Laurence-Moon-Biedl syndrome [RELATED]

LNMS [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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