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microcephaly and chorioretinopathy 1
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.
Uniprot Description A syndrome characterized by microcephaly, cognitive impairment, underdeveloped retina and choroid, and epilepsy in some patients. The more anterior parts of the retina, near the periphery and pars plana, have a grayish hue and diminutive vasculature similar to retinopathy of prematurity. Visual impairment becomes evident during the first year of life.
Mondo Term and Equivalent IDs
MONDO:0009624: microcephaly and chorioretinopathy 1
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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:0080105
NCIT:C129306
OMIM:251270
Orphanet:2518
MONDO:0009624
High level summary of knowledge for a disease, including descriptions and datasource references.