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microphthalmia, syndromic 11
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any syndromic microphthalmia in which the cause of the disease is a mutation in the VAX1 gene.
Uniprot Description A rare clinical entity including as main characteristics microphthalmia and small optic nerves, cleft lip and palate, absence of corpus callosum, hippocampal malformations, and absence of the pineal gland. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
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.
OMIM:614402
UMLS:C3553077
MONDO:0013734
High level summary of knowledge for a disease, including descriptions and datasource references.