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Niemann-Pick disease type B
Summary
- Definition
- A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4.
- Super Class
- Niemann-Pick disease
External Links
- Disease Ontology
- DOID:0070112
- Mondo Disease Ontology
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P17405 | Sphingomyelin phosphodiesterase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001317 | Abnormal cerebellum morphology |
| HP:0001328 | Specific learning disability |
| HP:0001394 | Cirrhosis |
| HP:0001399 | Hepatic failure |
| HP:0001410 | Decreased liver function |
| HP:0001654 | Abnormal heart valve morphology |
| HP:0001677 | Coronary artery atherosclerosis |
| HP:0001744 | Splenomegaly |
| HP:0001873 | Thrombocytopenia |
| HP:0001892 | Abnormal bleeding |
