OBO ID: DOID:1930 |
Term Name: | Laurence-Moon syndrome | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:1930 ) |
OTHER Laurence-Moon syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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