Phenotypes associated with the disease anterior segment dysgenesis 7 (OMIM:269400, an entry in Online Mendelian Inheritance in Man):
- Corneal opacity (HP:0007957, a Human Phenotype Ontology term): A reduction of corneal clarity. Evidence: PCS. Frequency: 11/11. (PMID:21907015)
- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. (PMID:21907015)
- Ocular hypertension (HP:0007906, a Human Phenotype Ontology term): Intraocular pressure that is 2 standard deviations above the population mean. Evidence: PCS. Frequency: 3/7. (PMID:21907015)
- Microcornea (HP:0000482, a Human Phenotype Ontology term): A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. Evidence: PCS. Frequency: 8/11. (PMID:21907015)
- Cataract (HP:0000518, a Human Phenotype Ontology term): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 7/7. (PMID:21907015)
- Anterior synechiae of the anterior chamber (HP:0011483, a Human Phenotype Ontology term): Adhesions between the iris and the cornea. Evidence: PCS. Frequency: 3/7. (PMID:21907015)
- 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:21907015)
- Buphthalmos (HP:0000557, a Human Phenotype Ontology term): Diffusely large eye (with megalocornea) associated with glaucoma. Evidence: PCS. Frequency: 3/11. (PMID:21907015)
- Microphthalmia (HP:0000568, a Human Phenotype Ontology term): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: PCS. Frequency: 0/7. (PMID:21907015)
- Iris coloboma (HP:0000612, a Human Phenotype Ontology term): A coloboma of the iris. Evidence: PCS. Frequency: 0/7. (PMID:21907015)
- Reduced visual acuity (HP:0007663, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 11/11. (PMID:21907015)
- Sclerocornea (HP:0000647, a Human Phenotype Ontology term): A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea. Evidence: PCS. (PMID:21907015)
- Ocular anterior segment dysgenesis (HP:0007700, a Human Phenotype Ontology term): Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. Evidence: PCS. (PMID:21907015)
- Neonatal onset (HP:0003623, a Human Phenotype Ontology term): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. (PMID:21907015)