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DO Term : congenital disorder of glycosylation type IIp [DOID:0070268] 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 TMEM199 gene on chromosome 17q11.2.
  • synonyms:
  • CDG2P,
  • CDG IIp,
  • 616829,
  • CDGIIp,
  • CDG syndrome type IIp,
  • ORDO:466703,
  • Carbohydrate deficient glycoprotein syndrome type IIp,
  • TMEM199-CDG,
  • Congenital disorder of glycosylation type 2p,
  • OMIM:616829
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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