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Laurence-Moon syndrome

Disease Summary
Associated Targets (2)
Tbio

2


Explore Associated Targets
Mondo Description Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.
Uniprot Description An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, mental retardation, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent.
Mondo Term and Equivalent IDs
MONDO:0009514:  Laurence-Moon syndrome
GARD:0012635: 
MESH:D007849: 
NCIT:C34760: 
Orphanet:2377: 
SCTID:232059000: 
UMLS:C0023138: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)