GGDonto: Genetic Glyco-Diseases Ontology

CON00431 :  'CDG-Ia, adult stable disability stage'  'PMM2-CDG, adult stable disability stage'  (Integration tree)  (Synthesis tree)
UMLS CUI	C0349653
UMLS SAB	MeSH (SCR)
UMLS CODE	C535739
OMIM DATA	Gene  PMM2 Gene Number  601785 Phenotype Number  212065
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.   Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2015) PMM2-CDG (CDG-Ia). Initial Posting: 15 Aug 2005, Last Update: 29 Oct 2015, Accessed 23 Feb 2016. 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.   Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2015) PMM2-CDG (CDG-Ia). Initial Posting: 15 Aug 2005, Last Update: 29 Oct 2015, Accessed 23 Feb 2016.

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