GGDonto/Entry

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.