Phenotypes associated with the disease patent ductus venosus (OMIM:601466, an entry in Online Mendelian Inheritance in Man):
- Hepatic steatosis (HP:0001397, a Human Phenotype Ontology term): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: TAS. (OMIM:601466)
- Congenital portosystemic venous shunt (HP:0012022, a Human Phenotype Ontology term): A congenital defect of the vasculature such that there is a shunt (by-pass) of blood directly from the portal vein to the vena cava (i.e., the blood from the portal vein is not filtered through the liver). Evidence: TAS. (OMIM:601466)
- Decreased liver function (HP:0001410, a Human Phenotype Ontology term): Reduced ability of the liver to perform its functions. Evidence: TAS. (OMIM:601466)
- Hypergalactosemia (HP:0012024, a Human Phenotype Ontology term): The concentration of galactose in the blood circulation is above the upper limit of normal. Evidence: TAS. (OMIM:601466)
- X-linked recessive inheritance (HP:0001419, a Human Phenotype Ontology term): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: TAS. (OMIM:601466)
- Persistent patent ductus venosus (HP:0012021, a Human Phenotype Ontology term): Persistence of blood flow through the ductus venosus for longer than the normal time after birth. Evidence: TAS. (OMIM:601466)
- Hyperammonemia (HP:0001987, a Human Phenotype Ontology term): An increased concentration of ammonia in the blood. Evidence: TAS. (OMIM:601466)
- Hepatic encephalopathy (HP:0002480, a Human Phenotype Ontology term): Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes. Evidence: TAS. (OMIM:601466)
- Autosomal recessive inheritance (HP:0000007, 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: TAS. (OMIM:601466)