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isolated microphthalmia 8
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene.
Uniprot Description A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.
Disease Ontology Description A microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060841
OMIM:615113
UMLS:C3554524
MONDO:0014050
High level summary of knowledge for a disease, including descriptions and datasource references.