Portal hypertension, noncirrhotic, 1

Preferred Label : Portal hypertension, noncirrhotic, 1;

Symbol : NCPH1;

CISMeF acronym : NCPH;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the deoxyguanosine kinase gene (DGUOK, 601465.0008);

Laboratory abnormalities : Normal liver enzymes;

Prefixed ID : #617068;

Details

Origin ID

617068;

UMLS CUI

C4310735;

Automatic exact mappings (from CISMeF team)
- Non-cirrhotic portal hypertension [MedDRA Preferred Term]
Genes related to phenotype
- Deoxyguanosine kinase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Elevated hepatic transaminase [HPO term]
- Esophageal varix [HPO term]
- Hepatomegaly [HPO term]
- Portal hypertension [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- Early-onset familial noncirrhotic portal hypertension [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- Early-onset familial noncirrhotic portal hypertension [ORDO Disease]

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