{"Name":"Mayer Rokitansky Kuster Hauser syndrome type 1","DiseaseID__c":"GARD:0004737","id":4737,"encodedName":"mayer-rokitansky-kuster-hauser-syndrome-type-1","IsDeleted":false,"Disease_Name_Full__c":"Mayer Rokitansky Kuster Hauser syndrome type 1","Xref_IDs__c":"C5566555; DOID:0112178; MEDGEN:1797978; MONDO:0010173; ORPHA:247775","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":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010173","Disease_Description__c":"Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome (see this term), is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.","GARD_Name__c":"Mayer Rokitansky Kuster Hauser syndrome type 1","GARD_Synonym__c":"mayer rokitansky küster hauser syndrome type 1; mayer-rokitansky-kuster-hauser syndrome type 1; mayer-rokitansky-küster-hauser syndrome type 1; mrkh; mrkh (mayer rokitansky küster hauser) syndrome type 1; mrkh syndrome type 1","Curated_Disease_Description_Source__c":"MONDO:0010173","Curated_Disease_Description__c":"Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Teenager","SourceID__c":"ORPHA:247775","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010173","ORPHANET_ID__c":"ORPHA:247775","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de mayer-rokitansky-küster-hauser tipo 1","Spanish_Description_Source__c":"ORPHA:247775","Spanish_Description__c":"El síndrome de Mayer-Rokitansky-Küster-Hauser (MRKH) tipo 1, una variante del síndrome de MRKH (consulte este término), es una forma aislada de aplasia congénita del útero y de los 2/3 superiores de la vagina que ocurre en mujeres que por lo demás son fenotípicamente normales.","Spanish_Disease_Name__c":"síndrome de mayer-rokitansky-küster-hauser tipo 1","Spanish_GARD_Synonym__c":"ausencia congénita de útero y vagina; secuencia de rokitansky; síndrome mrkh tipo 1","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":"Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1, a form of MRKH syndrome, is an isolated form of congenital aplasia of the uterus and 2/3 of the vagina occurring in otherwise phenotypically normal females.","Curated_Disease_Description_Source__c":"MONDO:0010173","GARD_Synonym__c":"mayer rokitansky küster hauser syndrome type 1; mayer-rokitansky-kuster-hauser syndrome type 1; mayer-rokitansky-küster-hauser syndrome type 1; mrkh; mrkh (mayer rokitansky küster hauser) syndrome type 1; mrkh syndrome type 1","Name":"Mayer Rokitansky Kuster Hauser syndrome type 1","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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":"Adolescent","Provided_By__c":"ORPHA:247775"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:247775"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/247775","Source__c":"C5566555; MONDO:0010173; ORPHA:247775","Xref__c":"ORPHA:247775"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1797978","Source__c":"C5566555","Xref__c":"MEDGEN:1797978"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112178","Source__c":"MONDO:0010173","Xref__c":"DOID:0112178"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5566555","Source__c":"C5566555","Xref__c":"C5566555"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010173","Source__c":"GARD:0004737","Xref__c":"MONDO:0010173"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1162832007","Source__c":"C5566555","Xref__c":"1162832007"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Nephrology","Congenital Abnormality","Urogenital Disorders"],"Specialist":["Genetics","Nephrology","Obstetrics / Gynecology","Urologist","Pediatrics"],"Account":["Nephrology","Infertility"]},"synonyms":["mayer rokitansky küster hauser syndrome type 1"," mayer-rokitansky-kuster-hauser syndrome type 1"," mayer-rokitansky-küster-hauser syndrome type 1"," mrkh"," mrkh (mayer rokitansky küster hauser) syndrome type 1"," mrkh syndrome type 1"]}