ODCs

Click node...

1 OMIM reference -
2 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Localized junctional epidermolysis bullosa, non-Herlitz type

Aneurysm - osteoarthritis syndrome

COL17A1	(UniProt - OMIM)		SMAD3	(UniProt - OMIM)
ITGB4	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ITGB4	(0.72)	SMAD3

Citations in the biomedical literature:

Localized junctional epidermolysis bullosa, non-Herlitz type		Aneurysm - osteoarthritis syndrome
	Synonym(s): - JEB-nH loc		Synonym(s): - AOS - Loeys-Dietz syndrome with osteoarthritis

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease - Rare skin disease		Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare surgical thoracic 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: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

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

No signs/symptoms info available.