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DOID:1930 - Laurence-Moon syndrome
Disease Ontology 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.
Synonyms: LNMS, Laurence-Moon-Biedl syndrome,
Xenbase Genes
:
pnpla6
| MONDO:0009514 - Laurence-Moon syndrome |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)