GGDonto: Genetic Glyco-Diseases Ontology

CON00627 :  'COG6-CDG'  (Integration tree)  (Synthesis tree)
Common disease names	CDG-IIL  Congenital Disorder of Glycosylation, Type IIL
Full list of disease names	Preferred Term  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL Preferred Term ABBR  CDG2L Synonyms (from OMIM and MeSH)  CDG IIL  CDGIIL  Congenital disorder of glycosylation type 2L
UMLS CUI	C3553230
OMIM DATA	Gene  COG6 Gene Number  606977 Phenotype Number  614576
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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