GGDonto/Entry

GGDonto: Genetic Glyco-Diseases Ontology

CON00397 : 'Neonatal osseous dysplasia I' (Integration tree) (Synthesis tree)

Common disease names

Atelosteogenesis, type II (AOII)

Full list of disease names

Preferred Term	ATELOSTEOGENESIS, TYPE II
Preferred Term ABBR	AOII
Synonyms (from OMIM and MeSH)	AO2 Atelosteogenesis de la Chapelle type NEONATAL OSSEOUS DYSPLASIA I
INCLUDED	DE LA CHAPELLE DYSPLASIA, INCLUDED DLCD, INCLUDED

UMLS CUI

C1850554

UMLS SAB

MeSH (SCR)

UMLS CODE

C535395

OMIM DATA

Gene	SLC26A2
Gene Number	606718
Phenotype Number	256050

References

Concept

Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464.
Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462. Eklund EA, Bode L, Freeze HH (2007) Diseases Associated with Carbohydrates/Glycoconjugates. vol.4 pp 339-372.

Relations

  Cummings RD, Pierce JM (eds) (2009) Handbook of Glycomics. Elsevier. ISBN:9780123736000. Freeze HH, Eklund E (2009) Introduction to Human Glycosylation Disorders. pp 431-464.
  Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
  Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462.
  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.
  Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.