ODCs

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

PROTEIN INTERACTIONS: 2

4 OMIM references -
3 associated genes
1 sign/symptom

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Congenital diaphragmatic hernia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EP300 EP300	(0.73) (0.55)	GATA6 ZFPM2

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		Congenital diaphragmatic hernia
	Synonym(s): (no synonyms)		Synonym(s): - CDH - Diaphragmatic agenesia

	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 abdominal surgical disease - Rare developmental defect during embryogenesis - Rare respiratory disease - Rare surgical thoracic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: multigenic/multifactorial

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - 1 MeSH reference: C538080

Congenital diaphragmatic hernia
	Very frequent - Diaphragmatic hernia / defect / agenesis
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
(no data available)