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DO Term : congenital disorder of glycosylation Ij [DOID:0080562] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23.
  • synonyms:
  • 608093,
  • ORDO:86309,
  • OMIM:608093,
  • GARD:9837,
  • Congenital disorder of glycosylation 1j
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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