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Congenital diaphragmatic hernia

4 OMIM references -
3 associated genes
1 sign/symptom

COMMON GENES: 1

Oculotrichoanal syndrome

1 OMIM reference -
1 associated gene
10 signs/symptoms

Congenital diaphragmatic hernia

Oculotrichoanal syndrome

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


COMMON GENES	FREM1

Citations in the biomedical literature:

Congenital diaphragmatic hernia		Oculotrichoanal syndrome
	Synonym(s): - CDH - Diaphragmatic agenesia		Synonym(s): - MOTA syndrome - Manitoba oculotrichoanal syndrome - Marles syndrome - Marles-Greenberg-Persaud syndrome

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare respiratory disease - Rare surgical thoracic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - 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: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

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

Congenital diaphragmatic hernia		Oculotrichoanal syndrome
	Very frequent - Diaphragmatic hernia / defect / agenesis		Very frequent - Abnormal implantation of hair - Autosomal recessive inheritance - Coloboma of the eyelid - Hypertelorism Frequent - Anus ectopia / anteposition / malposition - Anus / rectum anomalies - Defect / anomaly of lacrimal system Occasional - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Bifid tip / cleft nose / supernumerary nose - Cryptophthalmia / ankyloblepharon / synblepharon