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Gaucher's disease perinatal lethal
Summary
- Synonym
-
- Fetal Gaucher Disease
- Gaucher Disease, Collodion Type
- Definition
- A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
- Super Class
- Gaucher's disease
External Links
- Disease Ontology
- DOID:0110960
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04062 | Lysosomal acid glucosylceramidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001252 | Hypotonia |
| HP:0001873 | Thrombocytopenia |
| HP:0000218 | High palate |
| HP:0002170 | Intracranial hemorrhage |
| HP:0001522 | Death in infancy |
| HP:0003826 | Stillbirth |
| HP:0001250 | Seizure |
| HP:0001789 | Hydrops fetalis |
| HP:0007479 | Congenital nonbullous ichthyosiform erythroderma |
| HP:0001276 | Hypertonia |
