ODCs

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

PROTEIN INTERACTIONS: 1

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

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Intrahepatic cholestasis of pregnancy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EP300	(0.52)	NR1H4

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		Intrahepatic cholestasis of pregnancy
	Synonym(s): (no synonyms)		Synonym(s): - Gravidic intrahepatic cholestasis - Pregnancy-related cholestasis - Recurrent intrahepatic cholestasis of pregnancy

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease		Classification (Orphanet): - Rare gynecologic or obstetric disease - Rare hepatic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Pregnancy, childbirth and the puerperium -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: adulthood Average age of death: - Type of inheritance: multigenic/multifactorial

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C535932

No signs/symptoms info available.