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
Displaying 1 entry
Gene ID Gene Symbol Description Source
220 ALDH1A3 aldehyde dehydrogenase 1 family member A3
The Human Phenotype Ontology
Displaying all 10 entries
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
Displaying 1 entry
Gene ID Gene Symbol Description
220 ALDH1A3 aldehyde dehydrogenase 1 family member A3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024