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Disease Ontology Browser
Laurence-Moon syndrome (DOID:1930)
Alliance: disease page
Synonyms: Laurence-Moon-Biedl syndrome; LNMS
Alt IDs: OMIM:245800, MESH:D007849, NCI:C34760, ORDO:2377, UMLS_CUI:C0023138
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.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory