Sclerosing cholangitis, neonatal

Preferred Label : Sclerosing cholangitis, neonatal;

Symbol : NSC;

CISMeF acronym : NSC;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the doublecortin domain-containing protein 2 gene (DCDC2, 605755.0001);

Laboratory abnormalities : Abnormal liver enzymes;

Prefixed ID : #617394;

Details

Origin ID

617394;

UMLS CUI

C4479344;

CISMeF manual mappings
- Isolated neonatal sclerosing cholangitis [ORDO Disease]
Genes related to phenotype
- Doublecortin domain-containing protein 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Biliary cirrhosis [HPO term]
- Cholestasis [HPO term]
- Cirrhosis [HPO term]
- Elevated hepatic transaminase [HPO term]
- Hepatomegaly [HPO term]
- Infantile onset [HPO term]
- Jaundice [HPO term]
- Portal hypertension [HPO term]
- Progressive [HPO term]
- Pruritus [HPO term]
- Sclerosing cholangitis [HPO term]
- Splenomegaly [HPO term]
Not associated HPO term(s)
- Hearing impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Isolated neonatal sclerosing cholangitis [ORDO Disease]
Validated automatic mappings to BTNT
- Isolated neonatal sclerosing cholangitis (disorder) [SNOMED CT concept]

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