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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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P17405 | Sphingomyelin phosphodiesterase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000639 | Nystagmus |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000708 | Atypical behavior |
| HP:0000716 | Depression |
| HP:0000823 | Delayed puberty |
| HP:0000938 | Osteopenia |
| HP:0000939 | Osteoporosis |
| HP:0001081 | Cholelithiasis |
| HP:0001249 | Intellectual disability |
| HP:0001251 | Ataxia |
