{"Name":"Hydatidiform mole","DiseaseID__c":"GARD:0010263","id":10263,"encodedName":"hydatidiform-mole","IsDeleted":false,"Disease_Name_Full__c":"Hydatidiform mole","Xref_IDs__c":"44782008; C0020217; C3110; D006828; HP:0032192; MEDGEN:9329; MONDO:0006248; OMIMPS:231090; ORPHA:99927","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0006248","Disease_Description__c":"A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes.","GARD_Name__c":"Hydatidiform mole","GARD_Synonym__c":"hydatid mole; hydatidiform mole, recurrent; hydatidiform moles; molar pregnancy","Curated_Disease_Description_Source__c":"GARD:0010263","Curated_Disease_Description__c":"Recurrent hydatidiform mole is a condition that affects women and is characterized by the occurrence of at least two abnormal pregnancies that result in the formation of hydatidiform moles. A hydatidiform mole is a mass that forms early in pregnancy and is made up of cells from an abnormally developed embryo and placenta. Normally, the embryo would develop into a fetus and the placenta would grow to provide nutrients to the growing fetus. When a hydatidiform mole occurs once, it is known as sporadic hydatidiform mole; if it happens again, the condition is known as recurrent hydatidiform mole. The first symptom of a hydatidiform mole is often vaginal bleeding in the first trimester of pregnancy. During an ultrasound examination, the abnormal placenta appears as numerous small sacs, often described as resembling a bunch of grapes. Hydatidiform moles are not naturally discharged from the body and must be surgically removed, typically by the end of the first trimester. After removal, there is up to a 20 percent risk that any tissue left behind will continue to grow and become a cancerous (malignant) tumor called a persistent mole. If the tumor invades the surrounding tissue of the uterus, it is called an invasive mole. In rare cases, this malignant tumor can transform into a different form of cancer called gestational choriocarcinoma that can spread (metastasize) to other tissues such as the liver, lungs, or brain.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:99927","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0006248","ORPHANET_ID__c":"ORPHA:99927","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Mola hidatiforme","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"mola hidatiforme","Spanish_GARD_Synonym__c":"embarazo molar","Category_Linearization__c":"ORPHA:250908","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":"Recurrent hydatidiform mole is a condition that affects women and is characterized by the occurrence of at least two abnormal pregnancies that result in the formation of hydatidiform moles. A hydatidiform mole is a mass that forms early in pregnancy and is made up of cells from an abnormally developed embryo and placenta. Normally, the embryo would develop into a fetus and the placenta would grow to provide nutrients to the growing fetus. When a hydatidiform mole occurs once, it is known as sporadic hydatidiform mole; if it happens again, the condition is known as recurrent hydatidiform mole. The first symptom of a hydatidiform mole is often vaginal bleeding in the first trimester of pregnancy. During an ultrasound examination, the abnormal placenta appears as numerous small sacs, often described as resembling a bunch of grapes. Hydatidiform moles are not naturally discharged from the body and must be surgically removed, typically by the end of the first trimester. After removal, there is up to a 20 percent risk that any tissue left behind will continue to grow and become a cancerous (malignant) tumor called a persistent mole. If the tumor invades the surrounding tissue of the uterus, it is called an invasive mole. In rare cases, this malignant tumor can transform into a different form of cancer called gestational choriocarcinoma that can spread (metastasize) to other tissues such as the liver, lungs, or brain.","Curated_Disease_Description_Source__c":"GARD:0010263","GARD_Synonym__c":"hydatid mole; hydatidiform mole, recurrent; hydatidiform moles; molar pregnancy","Name":"Hydatidiform mole","estimateUsa":""}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"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":"Rare gynecological tumor","Tag_Category__c":"Account;Specialist","curated_tag_name":"Gynecological tumors"},{"Tag_Name__c":"Pregnancy-Related Diseases","Tag_Category__c":"Specialist","curated_tag_name":"Pregnancy-related diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:99927"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:99927"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0020217"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/phenotypicSeries/PS231090","Source__c":"MONDO:0006248","Xref__c":"OMIMPS:231090"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=9329","Source__c":"C0020217","Xref__c":"MEDGEN:9329"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C006828","Source__c":"C0020217; MONDO:0006248","Xref__c":"D006828"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3110","Source__c":"C0020217; MONDO:0006248","Xref__c":"C3110"},{"URL__c":"https://www.orpha.net/en/disease/detail/99927","Source__c":"C0020217; MONDO:0006248; ORPHA:99927","Xref__c":"ORPHA:99927"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0020217","Source__c":"C0020217","Xref__c":"C0020217"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=44782008","Source__c":"MONDO:0006248","Xref__c":"44782008"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0032192","Source__c":"C0020217","Xref__c":"HP:0032192"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0006248","Source__c":"GARD:0010263","Xref__c":"MONDO:0006248"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:99927","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000836","HPO_Synonym__c":"Overactive thyroid","HPO_Name__c":"Hyperthyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99927","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Prolonged/excessive menses and bleeding at irregular intervals.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0400008","HPO_Name__c":"Menometrorrhagia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99927","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100878","HPO_Synonym__c":"Enlarged uterus","HPO_Name__c":"Enlarged uterus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99927","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99927","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Obstetrics / Gynecology","Rare gynecological tumor","Pregnancy-Related Diseases","Pediatrics"],"Disease Category":["Cancer","Urogenital Disorders"],"Account":["Rare gynecological tumor"]},"synonyms":["hydatid mole"," hydatidiform mole, recurrent"," hydatidiform moles"," molar pregnancy"]}