Phenotypes associated with the disease cataract 34 multiple types (OMIM:612968, an entry in Online Mendelian Inheritance in Man):
- Corneal opacity (HP:0007957, a Human Phenotype Ontology term): A reduction of corneal clarity. Evidence: PCS. (PMID:17893665)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. (PMID:17893665)
- Nystagmus (HP:0000639, a Human Phenotype Ontology term): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. (PMID:17893665)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:17893665)
- 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:27218149)
- Membranous cataract (HP:0010922, a Human Phenotype Ontology term): A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens. Evidence: PCS. (PMID:17893665)
- Posterior subcapsular cataract (HP:0007787, a Human Phenotype Ontology term): A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. Evidence: PCS. (PMID:17893665)