{"Name":"Leiomyoma of vulva and esophagus","DiseaseID__c":"GARD:0010097","id":10097,"encodedName":"leiomyoma-of-vulva-and-esophagus","IsDeleted":false,"Disease_Name_Full__c":"Leiomyoma of vulva and esophagus","Xref_IDs__c":"C1835488; C537006; MEDGEN:320616; MONDO:0007887; OMIM:150700","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":1,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:150700","Disease_Description__c":null,"GARD_Name__c":"Leiomyoma of vulva and esophagus","GARD_Synonym__c":"leiomyomatosis, esophagogastric and vulvar","Curated_Disease_Description_Source__c":"OMIM:150700","Curated_Disease_Description__c":"Leiomyoma of vulva and esophagus is an autosomal dominant condition characterized by tumors in the lower portion of the esophagus. It can also cause vulval lesions and enlargement of the clitoris due to tumor growth at its base. Chromosome and endocrinologic studies in people with this condition have shown nothing abnormal. Leiomyoma of the vulva should prompt x-ray studies of the esophagus, and leiomyoma of the esophagus should prompt a search for vulval leiomyomas.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:150700","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007887","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":"Leiomyoma of vulva and esophagus is an autosomal dominant condition characterized by tumors in the lower portion of the esophagus. It can also cause vulval lesions and enlargement of the clitoris due to tumor growth at its base. Chromosome and endocrinologic studies in people with this condition have shown nothing abnormal. Leiomyoma of the vulva should prompt x-ray studies of the esophagus, and leiomyoma of the esophagus should prompt a search for vulval leiomyomas.","Curated_Disease_Description_Source__c":"OMIM:150700","GARD_Synonym__c":"leiomyomatosis, esophagogastric and vulvar","Name":"Leiomyoma of vulva and esophagus","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Kidney Federation","Website__c":"http://www.kidney.org.uk/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1835488"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=320616","Source__c":"C1835488","Xref__c":"MEDGEN:320616"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1835488","Source__c":"C1835488","Xref__c":"C1835488"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537006","Source__c":"MONDO:0007887","Xref__c":"C537006"},{"URL__c":"https://www.omim.org/entry/150700","Source__c":"C1835488; MONDO:0007887","Xref__c":"OMIM:150700"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007887","Source__c":"GARD:0010097","Xref__c":"MONDO:0007887"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:150700","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005240","HPO_Name__c":"Esophageal obstruction","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:150700","Feature__r":{"HPO_Description__c":"Hypertrophy of the clitoris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008665","HPO_Synonym__c":"Clitoral enlargement; Clitoromegaly; Enlarged clitoris; Hypertrophic clitoris; Prominent clitoris","HPO_Name__c":"Clitoral hypertrophy","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["leiomyomatosis, esophagogastric and vulvar"]}