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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.
Mondo Term and Equivalent IDs
MONDO:0021573:  oocyte maturation defect 2
UMLS:C4225210: