{"Name":"Spermatogenic failure 9","DiseaseID__c":"GARD:0015735","id":15735,"encodedName":"spermatogenic-failure-9","IsDeleted":false,"Disease_Name_Full__c":"Spermatogenic failure 9","Xref_IDs__c":"C3151407; DOID:0111156; MEDGEN:462757; MONDO:0013505; OMIM:613958","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0013505","Disease_Description__c":"Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene.","GARD_Name__c":"Spermatogenic failure 9","GARD_Synonym__c":"azoospermia caused by mutation in dpy19l2; dpy19l2 azoospermia; globozoospermia, complete; globozoospermia, total; spermatogenic failure type 9; spgf9","Curated_Disease_Description_Source__c":"MONDO:0013505","Curated_Disease_Description__c":"Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility). Normal sperm cells have an oval-shaped head with a cap-like covering called the acrosome. The acrosome contains enzymes that break down the outer membrane of an egg cell, allowing the sperm to fertilize the egg. The sperm cells of males with globozoospermia, however, have a round head and no acrosome. The abnormal sperm are unable to fertilize an egg cell, leading to infertility.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:613958","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013505","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Globozoospermia is a condition that affects only males. It is characterized by abnormal sperm and leads to an inability to father biological children (infertility). Normal sperm cells have an oval-shaped head with a cap-like covering called the acrosome. The acrosome contains enzymes that break down the outer membrane of an egg cell, allowing the sperm to fertilize the egg. The sperm cells of males with globozoospermia, however, have a round head and no acrosome. The abnormal sperm are unable to fertilize an egg cell, leading to infertility.","Curated_Disease_Description_Source__c":"MONDO:0013505","GARD_Synonym__c":"azoospermia caused by mutation in dpy19l2; dpy19l2 azoospermia; globozoospermia, complete; globozoospermia, total; spermatogenic failure type 9; spgf9","Name":"Spermatogenic failure 9","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3151407","Source__c":"C3151407","Xref__c":"C3151407"},{"URL__c":"https://www.omim.org/entry/613958","Source__c":"C3151407; MONDO:0013505","Xref__c":"OMIM:613958"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111156","Source__c":"MONDO:0013505","Xref__c":"DOID:0111156"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462757","Source__c":"C3151407","Xref__c":"MEDGEN:462757"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013505","Source__c":"GARD:0015735","Xref__c":"MONDO:0013505"},{"URL__c":"https://medlineplus.gov/genetics/condition/globozoospermia","Xref__c":"https://medlineplus.gov/genetics/condition/globozoospermia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DPY19L2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dpy19l2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613958","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the acrosome resulting in a round sperm head.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012205","HPO_Name__c":"Globozoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613958","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003251","HPO_Synonym__c":"Male infertility","HPO_Name__c":"Male infertility","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["azoospermia caused by mutation in dpy19l2"," dpy19l2 azoospermia"," globozoospermia, complete"," globozoospermia, total"," spermatogenic failure type 9"," spgf9"]}