ODCs

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

PROTEIN INTERACTIONS: 1

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

Congenital lethal myopathy, Compton-North type

Alagille syndrome due to a NOTCH2 point mutation


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CNTN1	(0.73)	NOTCH2

Citations in the biomedical literature:

Congenital lethal myopathy, Compton-North type		Alagille syndrome due to a NOTCH2 point mutation
	Synonym(s): (no synonyms)		Synonym(s): - Alagille-Watson syndrome due to a NOTCH2 point mutation - Arteriohepatic dysplasia due to a NOTCH2 point mutation - Syndromic bile duct paucity due to a NOTCH2 point mutation

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare hepatic disease - Rare oncologic disease - Rare renal disease - Rare surgical cardiac disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive		Epidemiological data: (no data available)

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

No signs/symptoms info available.