Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00395 (Tree)
Name Diastrophic dysplasia
Aliases Diastrophic dwarfism
Disease name:　INCLUDED DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, INCLUDED
Disease name:　Preferred Term DIASTROPHIC DYSPLASIA
Disease name:　Synonyms (from OMIM and MeSH) DD
Diastrophic dwarfism
DTD
UMLS CUI C0220726
UMLS SAB MeSH (SCR)
UMLS CODE C536170
OMIM DATA:　Gene SLC26A2
OMIM DATA:　Gene Number 606718
OMIM DATA:　Phenotype Number 222600
Symptoms, signs and abnormal clinical and laboratory findings
  • Arthritis
  • Bone Diseases
  • Bone Diseases, Developmental
  • Connective Tissue Diseases
  • Contracture
  • Craniofacial Abnormalities
  • Dwarfism (Short stature disorder)
  • Growth Disorders
  • Joint Diseases
  • Limb Deformities, Congenital
  • Mobility Limitation
  • Musculoskeletal Abnormalities
  • Musculoskeletal Diseases
  • Pathologic Processes
  • Respiration Disorders
  • Respiratory Insufficiency
  • Signs and Symptoms
  • Spinal Curvatures
  • Spinal Diseases
  • Calcinosis
  • Calcium Metabolism Disorders
  • Cartilage Diseases
  • Cleft Lip
  • Cleft Palate
  • Clubfoot (Congenital talipes equinovarus)
  • Fetal Growth Retardation
  • Foot Deformities, Congenital
  • Jaw Abnormalities
  • Osteoarthritis (Degenerative polyarthritis)
  • Scoliosis
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.