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oocyte maturation defect 2
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene.
Uniprot Description An autosomal dominant infertility disorder caused by defective oocyte maturation. Oocytes are arrested at metaphase I, and have an abnormal or no detectable spindle on polarization microscopy.
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:616780
UMLS:C4225210
MONDO:0021573
High level summary of knowledge for a disease, including descriptions and datasource references.