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DO Term : congenital disorder of glycosylation Id [DOID:0080556] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27.
  • synonyms:
  • GARD:9827,
  • congenital disorder of glycosylation 1d,
  • ORDO:79321,
  • 601110,
  • OMIM:601110
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents