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Congenital diaphragmatic hernia

4 OMIM references -
3 associated genes
1 sign/symptom

COMMON GENES: 1

Isolated trigonocephaly

2 OMIM references -
2 associated genes
7 signs/symptoms

Congenital diaphragmatic hernia

Isolated trigonocephaly

FREM1	(UniProt - OMIM)		FGFR1	(UniProt - OMIM)
GATA6	(UniProt - OMIM)		FREM1	(UniProt - OMIM)
ZFPM2	(UniProt - OMIM)


COMMON GENES	FREM1

Citations in the biomedical literature:

Congenital diaphragmatic hernia		Isolated trigonocephaly
	Synonym(s): - CDH - Diaphragmatic agenesia		Synonym(s): - Non-syndromic metopic craniosynostosis

	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 eye disease - Rare genetic 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: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 4 OMIM references - 1 MeSH reference: C538080		External references: 2 OMIM references - No MeSH references

Congenital diaphragmatic hernia		Isolated trigonocephaly
	Very frequent - Diaphragmatic hernia / defect / agenesis		Very frequent - Autosomal dominant inheritance - Trigonocephaly Frequent - Broad nasal root - Hypotelorism - Prominent supraorbital ridge - Synophris / synophrys Occasional - Omphalocele / exomphalos