Search Ontology:
Human Disease
Niemann-Pick disease type A
- Term ID
- DOID:0070111
- Synonyms
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- 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. (2)
- References
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- GARD:7206
- ICD10CM:E75.2
- MIM:257200
- Ontology
- Human Disease ( DOID:0070111 )
- is a type of
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Genes Involved
Zebrafish Models