{"Name":"Polyembryoma","DiseaseID__c":"GARD:0009621","id":9621,"encodedName":"polyembryoma","IsDeleted":false,"Disease_Name_Full__c":"Polyembryoma","Xref_IDs__c":"1156404008; 28325008; C0334518; C66776; MEDGEN:83160; MONDO:0015863; ORPHA:180229","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0015863","Disease_Description__c":"Polyembryoma is a type oftumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctivelook because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known.","GARD_Name__c":"Polyembryoma","GARD_Synonym__c":"embryonal carcinoma - polyembryonal type; embryonal carcinoma, polyembryonal type","Curated_Disease_Description_Source__c":"GARD:0009621","Curated_Disease_Description__c":"Polyembryoma is a type of tumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctive look because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a Polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. The cause of Polyembryoma is not yet known.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:180229","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015863","ORPHANET_ID__c":"ORPHA:180229","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Poliembrioma","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"poliembrioma","Spanish_GARD_Synonym__c":null,"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":"Polyembryoma is a type of tumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctive look because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a Polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. The cause of Polyembryoma is not yet known.","Curated_Disease_Description_Source__c":"GARD:0009621","GARD_Synonym__c":"embryonal carcinoma - polyembryonal type; embryonal carcinoma, polyembryonal type","Name":"Polyembryoma","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Target Ovarian Cancer","Website__c":"https://targetovariancancer.org.uk/"}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:180229"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:180229"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C66776","Source__c":"C0334518; MONDO:0015863","Xref__c":"C66776"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=83160","Source__c":"C0334518","Xref__c":"MEDGEN:83160"},{"URL__c":"https://www.orpha.net/en/disease/detail/180229","Source__c":"C0334518; MONDO:0015863; ORPHA:180229","Xref__c":"ORPHA:180229"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0334518","Source__c":"C0334518","Xref__c":"C0334518"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=28325008","Source__c":"C0334518","Xref__c":"28325008"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1156404008","Source__c":"C0334518","Xref__c":"1156404008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015863","Source__c":"GARD:0009621","Xref__c":"MONDO:0015863"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:180229","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the sacral bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005107","HPO_Synonym__c":"Abnormality of the sacrum","HPO_Name__c":"Abnormal sacrum morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180229","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the peritoneum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002585","HPO_Synonym__c":"Abnormality of the peritoneum","HPO_Name__c":"Abnormal peritoneum morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180229","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal enlargement or swelling in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031500","HPO_Name__c":"Abdominal mass","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180229","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180229","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180229","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An elevated circulating testosterone level in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030088","HPO_Synonym__c":"High serum testosterone level; High serum testosterone levels; Increased serum testosterone levels","HPO_Name__c":"Increased serum testosterone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180229","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the endocrine system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000818","HPO_Name__c":"Abnormality of the endocrine system","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180229","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of abnormally large testes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000053","HPO_Synonym__c":"Large testicles; Large testis","HPO_Name__c":"Macroorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180229","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040231","HPO_Name__c":"Abnormal onset of bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180229","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormally high variation in the amount of time between periods.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000858","HPO_Synonym__c":"Irregular menses; Irregular periods; Menstrual irregularities; Menstrual irregularity","HPO_Name__c":"Irregular menstruation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180229","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012288","HPO_Synonym__c":"Head and neck tumor","HPO_Name__c":"Neoplasm of head and neck","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180229","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030338","HPO_Synonym__c":"Abnormal circulating gonadotropin level","HPO_Name__c":"Abnormal circulating gonadotropin concentration","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180229","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Concentration of alpha-fetoprotein in the blood circulation above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006254","HPO_Synonym__c":"Increased levels of alpha fetoprotein; Increased serum alpha-fetoprotein; Serum alpha-fetoprotein increased","HPO_Name__c":"Elevated circulating alpha-fetoprotein concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:180229","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A increased concentration of serotonin in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003144","HPO_Synonym__c":"Increased serum serotonin","HPO_Name__c":"Increased serum serotonin","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180229","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008236","HPO_Name__c":"Isosexual precocious puberty","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180229","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180229","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of a gonad.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010785","HPO_Synonym__c":"Gonadal neoplasia","HPO_Name__c":"Gonadal neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180229","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the central compartment of the thoracic cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045026","HPO_Synonym__c":"Abnormality of the mediastinum","HPO_Name__c":"Abnormal mediastinum morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:180229","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A neoplasm arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030061","HPO_Name__c":"Neuroectodermal neoplasm","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Pediatrics"],"Disease Category":["Cancer"]},"synonyms":["embryonal carcinoma - polyembryonal type"," embryonal carcinoma, polyembryonal type"]}