Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00398 (Tree)
Name Autosomal recessive multiple epiphyseal dysplasia
Aliases Epiphyseal dysplasia, multiple, 4 (EDM4)
Disease name:　Preferred Term EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
Disease name:　Preferred Term ABBR EDM4
Disease name:　Synonyms (from OMIM and MeSH) MULTIPLE EPIPHYSEAL DYSPLASIA WITH BILAYERED PATELLAE
MULTIPLE EPIPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE
MULTIPLE EPIPHYSEAL DYSPLASIA WITH CLUBFOOT
UMLS CUI C1847593
UMLS SAB MeSH (SCR)
UMLS CODE C535504
OMIM DATA:　Gene SLC26A2
OMIM DATA:　Gene Number 606718
OMIM DATA:　Phenotype Number 226900
Symptoms, signs and abnormal clinical and laboratory findings
  • Arthritis
  • Bone Diseases, Developmental
  • Connective Tissue Diseases
  • Dwarfism (Short stature disorder)
  • Limb Deformities, Congenital
  • Musculoskeletal Abnormalities
  • Musculoskeletal Diseases
  • Musculoskeletal Pain
  • Pain
  • Spinal Curvatures
  • Cartilage Diseases
  • Cleft Lip
  • Cleft Palate
  • Clubfoot (Congenital talipes equinovarus)
  • Foot Deformities, Congenital
  • Hand Deformities, Congenital
  • Jaw Abnormalities
  • Lower Extremity Deformities, Congenital
  • Osteoarthritis (Degenerative polyarthritis)
  • Scoliosis
  • Upper Extremity Deformities, Congenital
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.