{"Name":"Mullerian aplasia","DiseaseID__c":"GARD:0007100","id":7100,"encodedName":"mullerian-aplasia","IsDeleted":false,"Disease_Name_Full__c":"Mullerian aplasia","Xref_IDs__c":"253828000; C0431637; C537371; MEDGEN:98466; MONDO:0019128; ORPHA:73217","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":4,"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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:73217","Disease_Description__c":null,"GARD_Name__c":"Mullerian aplasia","GARD_Synonym__c":"aplasia of müllerian ducts; aplasia of the mullerian ducts; aplasia of the müllerian ducts; mullerian duct failure; müllerian aplasia; müllerian duct failure","Curated_Disease_Description_Source__c":"MedlinePlus Genetics","Curated_Disease_Description__c":"Müllerian aplasia and hyperandrogenism is a condition that affects the reproductive system in females. This condition is caused by abnormal development of the Müllerian ducts, which are structures in the embryo that develop into the uterus, fallopian tubes, cervix, and the upper part of the vagina. Individuals with Müllerian aplasia and hyperandrogenism typically have an underdeveloped or absent uterus and may also have abnormalities of other reproductive organs. Females with this condition have normal female external genitalia, and they develop breasts and pubic hair normally at puberty; however, they do not begin menstruation by age 16 (primary amenorrhea) and will likely never have a menstrual period. Affected women are unable to have children (infertile). Females with Müllerian aplasia and hyperandrogenism have higher-than-normal levels of male sex hormones called androgens in their blood (hyperandrogenism), which can cause acne and excessive facial hair (facial hirsutism). Kidney abnormalities may be present in some affected individuals.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:73217","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019128","ORPHANET_ID__c":"ORPHA:73217","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aplasia mulleriana","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"aplasia mulleriana","Spanish_GARD_Synonym__c":"ausencia de conducto mulleriano","Category_Linearization__c":"ORPHA:93890","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":"Müllerian aplasia and hyperandrogenism is a condition that affects the reproductive system in females. This condition is caused by abnormal development of the Müllerian ducts, which are structures in the embryo that develop into the uterus, fallopian tubes, cervix, and the upper part of the vagina. Individuals with Müllerian aplasia and hyperandrogenism typically have an underdeveloped or absent uterus and may also have abnormalities of other reproductive organs. Females with this condition have normal female external genitalia, and they develop breasts and pubic hair normally at puberty; however, they do not begin menstruation by age 16 (primary amenorrhea) and will likely never have a menstrual period. Affected women are unable to have children (infertile). Females with Müllerian aplasia and hyperandrogenism have higher-than-normal levels of male sex hormones called androgens in their blood (hyperandrogenism), which can cause acne and excessive facial hair (facial hirsutism). Kidney abnormalities may be present in some affected individuals.","Curated_Disease_Description_Source__c":"MedlinePlus Genetics","GARD_Synonym__c":"aplasia of müllerian ducts; aplasia of the mullerian ducts; aplasia of the müllerian ducts; mullerian duct failure; müllerian aplasia; müllerian duct failure","Name":"Mullerian aplasia","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"InterConnect","Website__c":"https://interconnect.support/"},{"Account_Name__c":"Beautiful You MRKH Foundation","Website__c":"https://www.beautifulyoumrkh.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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:73217"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:73217"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=253828000","Source__c":"C0431637; MONDO:0019128","Xref__c":"253828000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0431637","Source__c":"C0431637","Xref__c":"C0431637"},{"URL__c":"https://www.orpha.net/en/disease/detail/73217","Source__c":"C0431637; MONDO:0019128; ORPHA:73217","Xref__c":"ORPHA:73217"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98466","Source__c":"C0431637","Xref__c":"MEDGEN:98466"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537371","Source__c":"MONDO:0019128","Xref__c":"C537371"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019128","Source__c":"GARD:0007100","Xref__c":"MONDO:0019128"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Obstetrics / Gynecology","Urologist","Pediatrics"]},"synonyms":["aplasia of müllerian ducts"," aplasia of the mullerian ducts"," aplasia of the müllerian ducts"," mullerian duct failure"," müllerian aplasia"," müllerian duct failure"]}