{"Name":"Androgen resistance syndrome","DiseaseID__c":"GARD:0005803","id":5803,"encodedName":"androgen-resistance-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Androgen resistance syndrome","Xref_IDs__c":"12313004; C0039585; C27226; D013734; DOID:4674; E34.5; MEDGEN:21102; MONDO:0019154; ORPHA:754","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019154","Disease_Description__c":"A rare difference of sex development (DSD) characterized by the presence of female external genitalia, ambiguous genitalia or variable defects in virilization in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS).","GARD_Name__c":"Androgen resistance syndrome","GARD_Synonym__c":"ais; ais - androgen insensitivity syndrome; androgen insensitivity; androgen insensitivity syndrome; androgen insensitivity syndrome due to coactivator deficiency; androgen insensitivity, complete; androgen insensitivity, x-linked recessive; androgen receptor deficiency; androgen-insensitivity syndrome; dhtr deficiency; dihydrotestosterone receptor deficiency; goldberg - maxwell syndrome; goldberg maxwell syndrome; goldberg-maxwell syndrome; morris syndrome; testicular feminization; testicular feminization syndrome","Curated_Disease_Description_Source__c":"GARD:0005803","Curated_Disease_Description__c":"Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have some physical traits of a woman. Androgen insensitivity syndrome is caused by genetic changes in the AR gene and is inherited in an X-linked recessive pattern.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:754","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019154","ORPHANET_ID__c":"ORPHA:754","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de insensibilidad a los andrógenos","Spanish_Description_Source__c":"ORPHA:754","Spanish_Description__c":"Es un desarrollo sexual diferente (DSD) poco frecuente caracterizado por la presencia de genitales externos femeninos, genitales ambiguos o defectos variables de la virilización en un individuo 46,XY con una capacidad de respuesta ausente o parcial a los niveles de andrógenos propios de su edad. Se compone de dos subgrupos clínicos: SIA completo (SIAC) y SIA parcial (SIAP).","Spanish_Disease_Name__c":"síndrome de insensibilidad a los andrógenos","Spanish_GARD_Synonym__c":"ais; síndrome de feminización testicular; síndrome de goldberg-maxwell; síndrome de morris; síndrome de resistencia a los andrógenos","Category_Linearization__c":"ORPHA:97978","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":"Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have some physical traits of a woman. Androgen insensitivity syndrome is caused by genetic changes in the AR gene and is inherited in an X-linked recessive pattern.","Curated_Disease_Description_Source__c":"GARD:0005803","GARD_Synonym__c":"ais; ais - androgen insensitivity syndrome; androgen insensitivity; androgen insensitivity syndrome; androgen insensitivity syndrome due to coactivator deficiency; androgen insensitivity, complete; androgen insensitivity, x-linked recessive; androgen receptor deficiency; androgen-insensitivity syndrome; dhtr deficiency; dihydrotestosterone receptor deficiency; goldberg - maxwell syndrome; goldberg maxwell syndrome; goldberg-maxwell syndrome; morris syndrome; testicular feminization; testicular feminization syndrome","Name":"Androgen resistance syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"InterConnect","Website__c":"https://interconnect.support/"},{"Account_Name__c":"Resolve: The National Infertility Association","Website__c":"https://resolve.org/"},{"Account_Name__c":"Accord Alliance","Website__c":"http://www.accordalliance.org/"}],"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine 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":"Urogenital Disorders","Tag_Category__c":"Disease Category","category_description":"Urinary and reproductive diseases affect the kidneys, ureters, bladder, urethra, or the reproductive organs.","curated_tag_name":"Urinary and reproductive diseases"},{"Tag_Name__c":"Obstetrics / Gynecology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Urologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Infertility","Tag_Category__c":"Account","curated_tag_name":"Infertility"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:754"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:754"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0039585"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0936016"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=21102","Source__c":"C0039585","Xref__c":"MEDGEN:21102"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4674","Source__c":"MONDO:0019154","Xref__c":"DOID:4674"},{"URL__c":"https://www.orpha.net/en/disease/detail/754","Source__c":"C0039585; MONDO:0019154; ORPHA:754","Xref__c":"ORPHA:754"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=12313004","Source__c":"C0039585; MONDO:0019154","Xref__c":"12313004"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C27226","Source__c":"C0039585; MONDO:0019154","Xref__c":"C27226"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C013734","Source__c":"C0039585; MONDO:0019154","Xref__c":"D013734"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0039585","Source__c":"C0039585","Xref__c":"C0039585"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019154","Source__c":"GARD:0005803","Xref__c":"MONDO:0019154"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/E34.5","Source__c":"MONDO:0019154","Xref__c":"E34.5"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1429","Source__c":"Gene Review","Xref__c":"NBK1429"},{"URL__c":"https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome"},{"URL__c":"https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome","Source__c":"GARD:0005803","Xref__c":"https://medlineplus.gov/genetics/condition/androgen-insensitivity-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"AR","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ar","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Endocrine","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Endocrine","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Infertility"]},"synonyms":["ais"," ais - androgen insensitivity syndrome"," androgen insensitivity"," androgen insensitivity syndrome"," androgen insensitivity syndrome due to coactivator deficiency"," androgen insensitivity, complete"," androgen insensitivity, x-linked recessive"," androgen receptor deficiency"," androgen-insensitivity syndrome"," dhtr deficiency"," dihydrotestosterone receptor deficiency"," goldberg - maxwell syndrome"," goldberg maxwell syndrome"," goldberg-maxwell syndrome"," morris syndrome"," testicular feminization"," testicular feminization syndrome"]}