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Niemann-Pick disease type A
Summary
- Definition
- A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues 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:0070111
- 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:0001935 | Microcytic anemia |
| HP:0004322 | Short stature |
| HP:0001257 | Spasticity |
| HP:0002240 | Hepatomegaly |
| HP:0000939 | Osteoporosis |
| HP:0002716 | Lymphadenopathy |
| HP:0001508 | Failure to thrive |
| HP:0010729 | Cherry red spot of the macula |
| HP:0002063 | Rigidity |
| HP:0000256 | Macrocephaly |
