Niemann-Pick disease type A

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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 the SMPD1 gene on chromosome 11p15.4.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: smpd1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009756 - Niemann-Pick disease type A

MONDO:0009756 - Niemann-Pick disease type A

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): genetic disease (is_a), Niemann-Pick disease (is_a)