GGDonto: Genetic Glyco-Diseases Ontology

CON00626 :  'TMEM165-CDG'  (Integration tree)  (Synthesis tree)
Common disease names	CDG-IIk  Congenital Disorder of Glycosylation, Type IIk
Full list of disease names	Preferred Term  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk Preferred Term ABBR  CDG2K Synonyms (from OMIM and MeSH)  CDG IIk  CDGIIk  Congenital disorder of glycosylation type 2K
UMLS CUI	C3553571
OMIM DATA	Gene  TMEM165 Gene Number  614726 Phenotype Number  614727
References	Concept   Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016.   Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics. Relations   Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016.   Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016. Table 1 CDG: Molecular Genetics.

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