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Osteogenesis imperfecta type 5
2 OMIM references -
2 associated genes
9 connected diseases
No signs/symptoms info
Disease Type of connection
Arthrogryposis-like syndrome
Bruck syndrome
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Primary ciliary dyskinesia
Autosomal dominant cutis laxa
Supravalvular aortic stenosis
Williams syndrome
Hirschsprung disease
Synonym(s):
- OI type 5
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
1 MeSH reference: C536046
Gene symbol UniProt reference OMIM reference
FKBP10 Q96AY3607063
IFITM5 A6NNB3614757
No signs/symptoms info available.