GGDonto: Genetic Glyco-Diseases Ontology
 CON00622 :  'SRD5A3-CDG'  (Integration tree)  (Synthesis tree)

Common disease names  CDG-Iq
 Congenital Disorder of Glycosylation, Type Iq
 Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities
Full list of disease names
Preferred Term  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq
Preferred Term ABBR  CDG1Q
Synonyms (from OMIM and MeSH)  CDG Iq
 CDGIq
 COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES
 Congenital disorder of glycosylation type 1Q
 Ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities
UMLS CUI  C3150191
UMLS SAB  MeSH (SCR)
UMLS CODE  C567328
OMIM DATA
Gene  SRD5A3
Gene Number  611715
Phenotype Number  612379
References
Concept   Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
  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   Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
  Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
  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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