{"Name":"Partial chromosome Y deletion","DiseaseID__c":"GARD:0016574","id":16574,"encodedName":"partial-chromosome-y-deletion","IsDeleted":false,"Disease_Name_Full__c":"Partial chromosome Y deletion","Xref_IDs__c":"717158001; C1507149; C536297; MEDGEN:267211; MONDO:0015607; ORPHA:1646","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015607","Disease_Description__c":"A genetic male infertility characterized by azoospermia or oligozoospermia due to chromosome Y microdeletion.","GARD_Name__c":"Partial chromosome Y deletion","GARD_Synonym__c":"male sterility due to chromosome y deletion; partial deletion of chromosome y","Curated_Disease_Description_Source__c":"ORPHA:1646","Curated_Disease_Description__c":"Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:1646","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015607","ORPHANET_ID__c":"ORPHA:1646","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microdeleción del cromosoma y","Spanish_Description_Source__c":"ORPHA:1646","Spanish_Description__c":"Es una forma de infertilidad masculina de origen genético caracterizada por azoospermia u oligozoospermia debido a una microdeleción en el cromosoma Y.","Spanish_Disease_Name__c":"síndrome de microdeleción del cromosoma y","Spanish_GARD_Synonym__c":"infertilidad masculina por microdeleción del cromosoma y; microdeleción de la región azf del cromosoma y","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":"Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.","Curated_Disease_Description_Source__c":"ORPHA:1646","GARD_Synonym__c":"male sterility due to chromosome y deletion; partial deletion of chromosome y","Name":"Partial chromosome Y deletion","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"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:1646"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1339","Source__c":"Gene Review","Xref__c":"NBK1339"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1507149","Source__c":"C1507149","Xref__c":"C1507149"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=267211","Source__c":"C1507149","Xref__c":"MEDGEN:267211"},{"URL__c":"https://www.orpha.net/en/disease/detail/1646","Source__c":"C1507149; MONDO:0015607","Xref__c":"ORPHA:1646"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536297","Source__c":"MONDO:0015607","Xref__c":"C536297"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717158001","Source__c":"C1507149; MONDO:0015607","Xref__c":"717158001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015607","Source__c":"GARD:0016574","Xref__c":"MONDO:0015607"}],"Inheritance__c":["Y-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1646","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced volume of the testicle (the male gonad).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008734","HPO_Synonym__c":"Decreased testicular size; Decreased testicular volume; Hypoplastic testes; Reduced testicular volume; Small testes; Small testis; Testicular hypoplasia","HPO_Name__c":"Decreased testicular size","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1646","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1646","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Incomplete maturation or aberrant formation of the male gametes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008669","HPO_Synonym__c":"Impaired spermatogenesis","HPO_Name__c":"Abnormal spermatogenesis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1646","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000798","HPO_Synonym__c":"Low sperm count; Oligospermia","HPO_Name__c":"Oligozoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1646","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011961","HPO_Synonym__c":"Testicular azoospermia","HPO_Name__c":"Non-obstructive azoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1646","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":{"Account":["Chromosomal Anomaly","Infertility"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Urologist"]},"synonyms":["male sterility due to chromosome y deletion"," partial deletion of chromosome y"]}