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Human Disease
Niemann-Pick disease type B
- Term ID
- DOID:0070112
- Synonyms
-
- 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. (2)
- References
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- GARD:10729
- ICD10CM:E75.2
- OMIM:607616
- Ontology
- Human Disease ( DOID:0070112 )
- is a type of
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