GGDonto: Genetic Glyco-Diseases Ontology

CON00623 :  'DDOST-CDG'  (Integration tree)  (Synthesis tree)
Common disease names	CDG-Ir  Congenital Disorder of Glycosylation, Type Ir
Full list of disease names	Preferred Term  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir Preferred Term ABBR  CDG1R Synonyms (from OMIM and MeSH)  Congenital disorder of glycosylation type 1R
UMLS CUI	C3281084
OMIM DATA	Gene  DDOST Gene Number  602202 Phenotype Number  614507
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.   Timal S, Hoischen A, Lehle L et al (2012) Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet 21(19):4151-4161. 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.   Timal S, Hoischen A, Lehle L et al (2012) Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet 21(19):4151-4161.

Copyright © 2014-2023 National Institute of Advanced Industrial Science and Technology (AIST)