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4 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
6 signs/symptoms
Osteogenesis imperfecta type 2
Epidermolysis bullosa simplex superficialis

COL1A1 COL7A1
COL1A2
CRTAP
LEPRE1
PPIB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL1A1
(0.75)
COL7A1



Citations in the biomedical literature:


Osteogenesis imperfecta type 2
COL1A1 COL1A2 CRTAP LEPRE1 PPIB
Epidermolysis bullosa simplex superficialis
COL7A1



Osteogenesis imperfecta type 2
Epidermolysis bullosa simplex superficialis

Synonym(s):
- Lethal osteogenesis imperfecta
- OI type 2

Synonym(s):
- EBSS

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
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: before age 5
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
4 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Epidermolysis bullosa simplex superficialis

Very frequent
- Autosomal dominant inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Follicular / erythematous / edematous papules / milium
- Nails anomalies
- Skin hypoplasia / aplasia / atrophy
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment



Osteogenesis imperfecta type 2

(no data available)