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Schindler Disease Type 3

Disease ID: disease_node_20483

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DbxrefGARD:3903, ORDO:79281
SubclassofDOID_0112317
Data SourceDOID
SynonymsNAGA deficiency type 3, alpha-N-acetylgalactosaminidase deficiency type 3
Doid LabelSchindler disease type 3
Doid DescriptionA Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2.
Disease Node Iddisease_node_20483
Doid IdDOID_0112320
LabelSchindler Disease Type 3