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Echinobase
Summary Literature (0)
DOID:0070111 - Niemann-Pick disease type A

Disease Ontology 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 SMPD1 on chromosome 11p15.4.

Synonyms:

Echinobase Genes : smpd1


OMIM:
MIM:257200 - niemann-pick disease, type a

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Niemann-Pick disease (is_a)