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isolated microphthalmia 6
Summary
- Synonym
-
- MCOP6
- posterior nonsyndromic microphthalmia
- Definition
- An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37.
- Super Class
- autosomal recessive disease isolated microphthalmia
External Links
- Disease Ontology
- DOID:0060835
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P0CW18 | Serine protease 56 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| F2YMG0 | Serine protease 56 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000610 | Abnormal choroid morphology |
| HP:0000501 | Glaucoma |
| HP:0008499 | High hypermetropia |
| HP:0000486 | Strabismus |
| HP:0007703 | Abnormality of retinal pigmentation |
| HP:0000568 | Microphthalmia |
