{"Name":"Mixed gonadal dysgenesis","DiseaseID__c":"GARD:0002539","id":2539,"encodedName":"mixed-gonadal-dysgenesis","IsDeleted":false,"Disease_Name_Full__c":"Mixed gonadal dysgenesis","Xref_IDs__c":"83579008; C0018055; C120199; D006060; DOID:14449; MEDGEN:6654; MONDO:0001969","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":3,"Disease_Characteristics_Score__c":1,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0001969","Disease_Description__c":"A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,xx; 45,X/46,xx/47,xxx; 46,xxp-; 45,X/46,xy; 45,X/47,xyy; 46,xypi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,xx or 46,xy constitution.","GARD_Name__c":"Mixed gonadal dysgenesis","GARD_Synonym__c":"45, x/46, xy mosaicism; mosaicism 45, x; 46, xy","Curated_Disease_Description_Source__c":"MEDGEN:C0018055","Curated_Disease_Description__c":"A congenital condition characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY. 45,X/46,XY mosaic is the most common form of mixed gonadal dysgenesis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0001969","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":"A congenital condition characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY. 45,X/46,XY mosaic is the most common form of mixed gonadal dysgenesis.","Curated_Disease_Description_Source__c":"MEDGEN:C0018055","GARD_Synonym__c":"45, x/46, xy mosaicism; mosaicism 45, x; 46, xy","Name":"Mixed gonadal dysgenesis","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Accord Alliance","Website__c":"http://www.accordalliance.org/"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A14449","Source__c":"MONDO:0001969","Xref__c":"DOID:14449"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=83579008","Source__c":"C0018055; MONDO:0001969","Xref__c":"83579008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0018055","Source__c":"C0018055","Xref__c":"C0018055"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=6654","Source__c":"C0018055","Xref__c":"MEDGEN:6654"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C006060","Source__c":"C0018055; MONDO:0001969","Xref__c":"D006060"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0001969","Source__c":"GARD:0002539","Xref__c":"MONDO:0001969"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C120199","Source__c":"C0018055","Xref__c":"C120199"}],"tags":{},"synonyms":["45, x/46, xy mosaicism"," mosaicism 45, x"," 46, xy"]}