Phenotypes associated with the disease portal vein, cavernous transformation of (OMIM:601004, an entry in Online Mendelian Inheritance in Man):
- Extrahepatic portal hypertension (HP:0004941, a Human Phenotype Ontology term): Increased pressure in the pre-hepatic portal vein. Evidence: TAS. (OMIM:601004)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: TAS. (OMIM:601004)