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Gaucher's disease type I
Summary
- Synonym
-
- Acid Beta-Glucosidase Deficiency
- GD I
- GD1
- Gaucher Disease, Noncerebral Juvenile
- Gba Deficiency
- Glucocerebrosidase Deficiency
- Definition
- A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
- Super Class
- Gaucher's disease
External Links
- Disease Ontology
- DOID:0110957
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04062 | Lysosomal acid glucosylceramidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000225 | Gingival bleeding |
| HP:0000716 | Depression |
| HP:0000790 | Hematuria |
| HP:0000823 | Delayed puberty |
| HP:0000938 | Osteopenia |
| HP:0000939 | Osteoporosis |
| HP:0000978 | Bruising susceptibility |
| HP:0001081 | Cholelithiasis |
| HP:0001300 | Parkinsonism |
| HP:0001394 | Cirrhosis |
