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Osteogenesis imperfecta type 2
4 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
1 OMIM reference -
1 associated gene
No signs/symptoms info
Osteogenesis imperfecta type 2
Hereditary cerebral hemorrhage with amyloidosis, Flemish type

COL1A1
(UniProt - OMIM)
 APP
(UniProt - OMIM)
COL1A2
(UniProt - OMIM)
CRTAP
(UniProt - OMIM)
LEPRE1
(UniProt - OMIM)
PPIB
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
COL1A2
(0.52)
APP


Citations in the biomedical literature:


Osteogenesis imperfecta type 2
COL1A1 COL1A2 CRTAP LEPRE1 PPIB
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
APP



Osteogenesis imperfecta type 2
Hereditary cerebral hemorrhage with amyloidosis, Flemish type

Synonym(s):
- Lethal osteogenesis imperfecta
- OI type 2
Synonym(s):
- HCHWA, Flemish type
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.