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MIRAGE
atypical Gaucher's disease due to saposin c deficiency
Summary
- Definition
- A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1.
- Super Class
- Gaucher's disease
External Links
- Disease Ontology
- DOID:0110961
- ORDO
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07602 | Prosaposin |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001903 | Anemia |
| HP:0000938 | Osteopenia |
| HP:0006897 | Abducens palsy |
| HP:0002376 | Developmental regression |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002653 | Bone pain |
| HP:0012432 | Chronic fatigue |
| HP:0001250 | Seizure |
| HP:0004975 | Erlenmeyer flask deformity of the femurs |
| HP:0000508 | Ptosis |
