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female infertility due to zona pellucida defect

Disease Summary
Associated Targets (3)
Tbio

3


Mondo Description Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa.
Uniprot Description An infertility disorder caused by defective oocyte maturation that results in abnormal eggs lacking a zona pellucida. Affected females have normal menstrual cycles and sex hormone levels, no obstruction in the fallopian tubes or abnormalities of the uterus or adnexa.
Mondo Term and Equivalent IDs
MONDO:0014342:  female infertility due to zona pellucida defect
Orphanet:404466: 
UMLS:C4014291: