ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

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

Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion

Aneurysm - osteoarthritis syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FOXL2	(0.63)	SMAD3

Citations in the biomedical literature:

Blepharophimosis - epicanthus inversus - ptosis due to 3q23 microdeletion		Aneurysm - osteoarthritis syndrome
	Synonym(s): - Blepharophimosis - epicanthus inversus - ptosis due to del(3)(q23) - Blepharophimosis - epicanthus inversus - ptosis due to monosomy 3q23 - Blepharophimosis types 1 and 2 due to 3q23 microdeletion - Blepharophimosis types 1 and 2 due to del(3)(q23) - Blepharophimosis types 1 and 2 due to monosomy 3q23		Synonym(s): - AOS - Loeys-Dietz syndrome with osteoarthritis

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility		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: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: variable Average age of death: - Type of inheritance: autosomal dominant

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

No signs/symptoms info available.