ODCs

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4 OMIM references -
5 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
9 signs/symptoms

Osteogenesis imperfecta type 2

Pretibial dystrophic epidermolysis bullosa


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

Citations in the biomedical literature:

Osteogenesis imperfecta type 2		Pretibial dystrophic epidermolysis bullosa
	Synonym(s): - Lethal osteogenesis imperfecta - OI type 2		Synonym(s): - DEB-Pt - Pretibial DEB

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - 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: <1 / 1 000 000 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

Pretibial dystrophic epidermolysis bullosa
	Very frequent - Abnormal fingernails - Abnormal toenails - Autosomal dominant inheritance - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Abnormal scarring / cheloids / hypertrophic scars - Follicular / erythematous / edematous papules / milium - Pruritus / itching Occasional - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Lichen
Osteogenesis imperfecta type 2
(no data available)