ODCs

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4 OMIM references -
3 associated genes
1 sign/symptom

PROTEIN INTERACTIONS: 2

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

Congenital diaphragmatic hernia

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency


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

Citations in the biomedical literature:

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

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare respiratory disease - Rare surgical thoracic disease		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 (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

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

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

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