Term Name: | Niemann-Pick disease type B |
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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. |
Ontology: | Human Disease [DOID:0070112] ( DOID:0070112 ) |