Laurence-Moon syndrome

Term ID

DOID:1930

Synonyms

• Laurence-Moon-Biedl syndrome
• LNMS

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

References

• GARD:12635
• MEDDRA:10056710
• MESH:D007849
• NCI:C34760
• OMIM:245800
• ORDO:2377
• SNOMEDCT_US_2023_03_01:232059000
• UMLS_CUI:C0023138

Ontology

Human Disease   ( DOID:1930 )