{"Name":"Female infertility due to zona pellucida defect","DiseaseID__c":"GARD:0017675","id":17675,"encodedName":"female-infertility-due-to-zona-pellucida-defect","IsDeleted":false,"Disease_Name_Full__c":"Female infertility due to zona pellucida defect","Xref_IDs__c":"C4014291; MEDGEN:862728; MONDO:0014342; OMIM:615774; ORPHA:404466","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014342","Disease_Description__c":"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.","GARD_Name__c":"Female infertility due to zona pellucida defect","GARD_Synonym__c":"oocyte maturation defect 1; oocyte/zygote/embryo maturation arrest 1; ozema1","Curated_Disease_Description_Source__c":"MONDO:0014342","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:404466","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014342","ORPHANET_ID__c":"ORPHA:404466","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Infertilidad femenina por un defecto de la zona pelúcida","Spanish_Description_Source__c":"ORPHA:404466","Spanish_Description__c":"La infertilidad femenina por defecto de la zona pelúcida, es un trastorno de infertilidad femenino, genético y poco frecuente, caracterizado por la presencia de ovocitos anómalos que carecen de zona pelúcida. Las afectadas no pueden concebir a pesar de tener ciclos menstruales y niveles de hormonas sexuales normales, y carecer de obstrucciones en las trompas de Falopio así como de defectos del útero o anexos.","Spanish_Disease_Name__c":"infertilidad femenina por un defecto de la zona pelúcida","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98047","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"MONDO:0014342","GARD_Synonym__c":"oocyte maturation defect 1; oocyte/zygote/embryo maturation arrest 1; ozema1","Name":"Female infertility due to zona pellucida defect","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:404466"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/404466","Source__c":"C4014291; MONDO:0014342","Xref__c":"ORPHA:404466"},{"URL__c":"https://www.omim.org/entry/615774","Source__c":"C4014291; MONDO:0014342","Xref__c":"OMIM:615774"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4014291","Source__c":"C4014291","Xref__c":"C4014291"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=862728","Source__c":"C4014291","Xref__c":"MEDGEN:862728"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014342","Source__c":"GARD:0017675","Xref__c":"MONDO:0014342"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ZP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant","Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615774","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of the oocyte extracellular matrix region (zona pellucida). This feature can be observed following follicular aspiration (retrieval of eggs for fertility treatments).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:6000328","HPO_Name__c":"Absent zona pellucida","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:615774","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008222","HPO_Synonym__c":"Female infertility","HPO_Name__c":"Female infertility","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics"],"Account":["Infertility"]},"synonyms":["oocyte maturation defect 1"," oocyte/zygote/embryo maturation arrest 1"," ozema1"]}