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DO Term : congenital disorder of glycosylation Ir [DOID:0080569] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36.
  • synonyms:
  • congenital disorder of glycosylation 1r,
  • 614507,
  • OMIM:614507,
  • GARD:12398,
  • ORDO:300536
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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