Schindler disease type 1

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Summary

Literature (0)

DOID:0112318 - Schindler disease type 1

Disease Ontology Definition:A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2.

Synonyms: alpha-N-acetylgalactosaminidase deficiency type 1, NAGA deficiency type 1

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

: naga

MIM:

MIM:609241 - SCHINDLER DISEASE, TYPE I

MIM:609241 - SCHINDLER DISEASE, TYPE I

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

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

Parent(s): Schindler disease (is_a)