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Schindler Disease Type 1

Disease ID: disease_node_20485

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DbxrefGARD:116, MIM:609241, ORDO:79279
SubclassofDOID_0112317
Data SourceDOID
SynonymsNAGA deficiency type 1, alpha-N-acetylgalactosaminidase deficiency type 1
Doid LabelSchindler disease type 1
Doid DescriptionA 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.
Disease Node Iddisease_node_20485
Doid IdDOID_0112318
LabelSchindler Disease Type 1