Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00396 (Tree)
Name Achondrogenesis type IB
Aliases ACG1B
Achondrogenesis, Fraccaro type
Disease name:　Preferred Term ACHONDROGENESIS, TYPE IB
Disease name:　Preferred Term ABBR ACG1B
Disease name:　Synonyms (from OMIM and MeSH) Fraccaro achondrogenesis
ACHONDROGENESIS, FRACCARO TYPE
UMLS CUI C0265274
UMLS SAB MeSH (SCR)
UMLS CODE C536016
OMIM DATA:　Gene SLC26A2
OMIM DATA:　Gene Number 606718
OMIM DATA:　Phenotype Number 600972
Symptoms, signs and abnormal clinical and laboratory findings
  • Bone Diseases
  • Bone Diseases, Developmental
  • Connective Tissue Diseases
  • Dwarfism (Short stature disorder)
  • Growth Disorders
  • Hernia, Abdominal
  • Hernia, Inguinal
  • Hernia, Umbilical
  • Hernia, Ventral
  • Limb Deformities, Congenital
  • Musculoskeletal Abnormalities
  • Musculoskeletal Diseases
  • Pathologic Processes
  • Respiration Disorders
  • Respiratory Insufficiency
  • Cartilage Diseases
  • Clubfoot (Congenital talipes equinovarus)
  • Fetal Death
  • Fetal Growth Retardation
  • Foot Deformities, Congenital
  • Pregnancy Complications
References
  • 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.
  • 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.
  • Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
  • 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.