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isolated microphthalmia 8
Summary
- Synonym
-
- MCOP8
- Definition
- An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26.
- Super Class
- autosomal recessive disease isolated microphthalmia
External Links
- Disease Ontology
- DOID:0060841
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000541 | Retinal detachment |
| HP:0003577 | Congenital onset |
| HP:0000480 | Retinal coloboma |
| HP:0012745 | Short palpebral fissure |
| HP:0000609 | Optic nerve hypoplasia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000621 | Entropion |
| HP:0000528 | Anophthalmia |
| HP:0011478 | True anophthalmia |
| HP:0000568 | Microphthalmia |
