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DO Term : Schindler disease type 1 [DOID:0112318] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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:
  • ORDO:79279,
  • GARD:116,
  • alpha-N-acetylgalactosaminidase deficiency type 1,
  • OMIM:609241,
  • NAGA deficiency type 1,
  • 609241
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Disease

Diseases --> Human genes

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Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents





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