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DO Term : congenital disorder of glycosylation type IIk [DOID:0070263] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12.
  • synonyms:
  • OMIM:614727,
  • Congenital disorder of glycosylation type 2k,
  • CDG2K,
  • CDG syndrome type IIk,
  • CDG IIk,
  • Carbohydrate deficient glycoprotein syndrome type IIk,
  • ORDO:314667,
  • GARD:12413,
  • TMEM165-CDG,
  • CDGIIk,
  • 614727
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Disease

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Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents