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microphthalmia, isolated, with coloboma 5
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH 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. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure).
Mondo Term and Equivalent IDs
MONDO:0012709: microphthalmia, isolated, with coloboma 5
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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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C566899
OMIM:611638
UMLS:C1968843
MONDO:0012709
High level summary of knowledge for a disease, including descriptions and datasource references.