Phenotypes associated with the disease Axenfeld-Rieger syndrome type 1 (OMIM:180500, an entry in Online Mendelian Inheritance in Man):
- Anal stenosis (HP:0002025, a Human Phenotype Ontology term): Abnormal narrowing of the anal opening. Evidence: IEA. (OMIM:180500)
- Anal atresia (HP:0002023, a Human Phenotype Ontology term): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: IEA. (OMIM:180500)
- Strabismus (HP:0000486, a Human Phenotype Ontology term): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: IEA. (OMIM:180500)
- Megalocornea (HP:0000485, a Human Phenotype Ontology term): An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. Evidence: IEA. (OMIM:180500)
- Ectopia pupillae (HP:0009918, a Human Phenotype Ontology term): A malposition of the pupil owing to a developmental defect of the iris. Evidence: PCS. Frequency: 1/1. (PMID:8944018)
- 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: IEA. (OMIM:180500)
- Variable expressivity (HP:0003828, a Human Phenotype Ontology term): A variable severity of phenotypic features. Evidence: IEA. (OMIM:180500)
- Rieger anomaly (HP:0000558, a Human Phenotype Ontology term): A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities. Evidence: TAS. (OMIM:180500)
- Thin upper lip vermilion (HP:0000219, a Human Phenotype Ontology term): Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). Evidence: TAS. Frequency: 20/20. (OMIM:180500)
- Prominent supraorbital ridges (HP:0000336, a Human Phenotype Ontology term): Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. Evidence: IEA. (OMIM:180500)
- Oligodontia (HP:0000677, a Human Phenotype Ontology term): The absence of six or more teeth from the normal series by a failure to develop. Evidence: PCS. Frequency: 1/1. (PMID:8944018)
- Wide nasal bridge (HP:0000431, a Human Phenotype Ontology term): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: IEA. (OMIM:180500)
- Microdontia (HP:0000691, a Human Phenotype Ontology term): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: PCS. Frequency: 1/1. (PMID:8944018)
- Polycoria (HP:0011500, a Human Phenotype Ontology term): Multiple pupils. Evidence: TAS. (OMIM:180500)
- Posterior embryotoxon (HP:0000627, a Human Phenotype Ontology term): A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe. Evidence: PCS. Frequency: 1/1. (PMID:8944018)
- Hypodontia (HP:0000668, a Human Phenotype Ontology term): The absence of five or less teeth from the normal series by a failure to develop. Evidence: IEA. (OMIM:180500)
- Hypoplasia of the maxilla (HP:0000327, a Human Phenotype Ontology term): Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. Evidence: IEA. (OMIM:180500)
- Abnormally prominent line of Schwalbe (HP:0007873, a Human Phenotype Ontology term). Evidence: TAS. (OMIM:180500)
- Decreased response to growth hormone stimulation test (HP:0000824, a Human Phenotype Ontology term): Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. Evidence: IEA. (OMIM:180500)
- Aniridia (HP:0000526, a Human Phenotype Ontology term): Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. Evidence: IEA. (OMIM:180500)
- Hypoplasia of the iris (HP:0007676, a Human Phenotype Ontology term): Congenital underdevelopment of the iris. Evidence: PCS. Frequency: 1/1. (PMID:8944018)
- Hypospadias (HP:0000047, a Human Phenotype Ontology term): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: IEA. (OMIM:180500)
- Short philtrum (HP:0000322, a Human Phenotype Ontology term): Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. Evidence: IEA. (OMIM:180500)
- 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: PCS. (PMID:8944018)
- Glaucoma (HP:0000501, a Human Phenotype Ontology term): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: IEA. (OMIM:180500)