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microcephaly and chorioretinopathy 3
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene.
Uniprot Description A disorder characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus. Variable ocular anomalies include microphthalmia, retinal folding, retinal detachment, optic nerve hypoplasia, absence of retinal vessels, round areas of chorioretinal atrophy, and attenuated electroretinogram. Most patients have mild developmental delay and mild learning difficulties.
Mondo Term and Equivalent IDs
MONDO:0014592: microcephaly and chorioretinopathy 3
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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.
DOID:0080107
OMIM:616335
UMLS:C4225362
MONDO:0014592
High level summary of knowledge for a disease, including descriptions and datasource references.