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Human Disease

Niemann-Pick disease type A

Term ID
DOID:0070111
Synonyms
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
Ontology
Human Disease   ( DOID:0070111 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models