Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00397 (Tree)
Name Neonatal osseous dysplasia I
Aliases Atelosteogenesis, type II (AOII)
Disease name:　INCLUDED DLCD, INCLUDED
DE LA CHAPELLE DYSPLASIA, INCLUDED
Disease name:　Preferred Term ATELOSTEOGENESIS, TYPE II
Disease name:　Preferred Term ABBR AOII
Disease name:　Synonyms (from OMIM and MeSH) AO2
NEONATAL OSSEOUS DYSPLASIA I
Atelosteogenesis de la Chapelle type
UMLS CUI C1850554
UMLS SAB MeSH (SCR)
UMLS CODE C535395
OMIM DATA:　Gene SLC26A2
OMIM DATA:　Gene Number 606718
OMIM DATA:　Phenotype Number 256050
Symptoms, signs and abnormal clinical and laboratory findings
  • Bone Diseases, Developmental
  • Connective Tissue Diseases
  • Craniofacial Abnormalities
  • Dwarfism (Short stature disorder)
  • Kyphosis
  • Limb Deformities, Congenital
  • Maxillofacial Abnormalities
  • Musculoskeletal Abnormalities
  • Musculoskeletal Diseases
  • Respiration Disorders
  • Respiratory Insufficiency
  • Spinal Curvatures
  • Stomatognathic System Abnormalities
  • Cartilage Diseases
  • Cleft Lip
  • Cleft Palate
  • Clubfoot (Congenital talipes equinovarus)
  • Fetal Death
  • Foot Deformities, Congenital
  • Jaw Abnormalities
  • Lordosis
  • Pregnancy Complications
  • 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.