FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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Term atypical Gaucher's disease due to saposin c deficiency ID (Ontology) DOID:0110961 (Human Disease)
Definition A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1.
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 atypical Gaucher's disease due to saposin c deficiency       1
 for disease ribbon | atypical Gaucher's disease due to saposin c deficiency       1
 model of | atypical Gaucher's disease due to saposin c deficiency       1
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  sphingolipidosis
   |__Gaucher's disease
       |__atypical Gaucher's disease due to saposin c deficiency  1 rec.
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ICD10CM:E75.2
MIM:610539
ORDO:309252