OBO ID: DOID:0111330 |
Term Name: | combined saposin deficiency | Search Ontology: | |
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Definition: | A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or coumpound heterozygous mutation in PSAP on 10q22.1. (2) | ||
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Ontology: | Human Disease ( DOID:0111330 ) |
OTHER combined saposin deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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