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General Information
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| Term |
combined saposin deficiency |
ID (Ontology) |
DOID:0111330 (Human Disease) |
| 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 compound heterozygous mutation in PSAP on 10q22.1. |
| Also Known As |
"combined SAP deficiency" ; "encephalopathy due to prosaposin deficiency" ; "PSAPD" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 4 | | Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Alleles | Genes | Human Disease Models |
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combined saposin deficiency | 4 | 2 | 1 | exacerbates | combined saposin deficiency | 1 | -- | -- | for disease ribbon | combined saposin deficiency | -- | 1 | -- | model of | combined saposin deficiency | 3 | 1 | -- |
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Relationships