Phenotypes associated with the disease cataract 44 (OMIM:616509, an entry in Online Mendelian Inheritance in Man):
- Visual loss (HP:0000572, a Human Phenotype Ontology term): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: PCS. (PMID:26200341)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 4/4. (PMID:26200341)
- Developmental cataract (HP:0000519, a Human Phenotype Ontology term): A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. Evidence: PCS. Frequency: 4/4. (PMID:26200341)
- 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: PCS. (PMID:26200341)