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DO Term : congenital disorder of glycosylation Iw [DOID:0080572] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24.
  • synonyms:
  • ORDO:370921,
  • congenital disorder of glycosylation 1w,
  • 615596,
  • OMIM:615596
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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