| Concept UI |
CON00408 (Tree)
|
| Name |
Bruck syndrome 2
|
| Aliases |
Osteogenesis imperfecta with congenital joint contractures
BRKS2
|
| Disease name: Preferred Term |
BRUCK SYNDROME 2
|
| Disease name: Preferred Term ABBR |
BRKS2
|
| Disease name: Synonyms (from OMIM and MeSH) |
OSTEOGENESIS IMPERFECTA WITH CONGENITAL JOINT CONTRACTURES
|
| UMLS CUI |
C1836602
|
| UMLS SAB |
MeSH (SCR)
|
| UMLS CODE |
C537407
|
| OMIM DATA: Gene |
PLOD2
|
| OMIM DATA: Gene Number |
601865
|
| OMIM DATA: Phenotype Number |
609220
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Bone Diseases, Metabolic
- Contracture
- Hernia, Abdominal
- Hernia, Inguinal
- Joint Diseases
- Musculoskeletal Abnormalities
- Musculoskeletal Diseases
- Osteoporosis
- Arthrogryposis
- Clubfoot (Congenital talipes equinovarus)
- Collagen Diseases
- Foot Deformities, Congenital
- Fractures, Bone
- Fractures, Spontaneous (Pathological fracture)
- Osteochondrodysplasias
- Osteogenesis Imperfecta
|
|
References
|
- 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.
- Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462.
- 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.
|
GDGDB (ID)
Link to the Glyco-Disease Genes Database |
110
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