{"Name":"Parathyroid carcinoma","DiseaseID__c":"GARD:0007329","id":7329,"encodedName":"parathyroid-carcinoma","IsDeleted":false,"Disease_Name_Full__c":"Parathyroid carcinoma","Xref_IDs__c":"255037004; C0687150; C4906; DOID:1540; HP:0006780; MEDGEN:146361; MONDO:0012004; OMIM:608266; ORPHA:143","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":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012004","Disease_Description__c":"A rare endocrine tumor characterized by a malignant neoplasm derived from parathyroid parenchymal cells, localized in one of the normally located parathyroid glands or other sites where parathyroid tissue may be present. Signs and symptoms are predominantly due to excess secretion of parathyroid hormone, with marked hypercalcemia and renal and bone involvement. In rare cases, the tumor may be non-functioning and only present as a palpable mass in the neck region. Recurrent laryngeal nerve paralysis is also observed. The tumor can occur sporadically or on a genetic background. The extent of invasion of adjacent structures positively correlates with the development of recurrent or metastatic disease.","GARD_Name__c":"Parathyroid carcinoma","GARD_Synonym__c":"adenocarcinoma of parathyroid; adenocarcinoma of parathyroid gland; adenocarcinoma of the parathyroid; adenocarcinoma of the parathyroid gland; carcinoma of parathyroid; carcinoma of parathyroid gland; carcinoma of the parathyroid; carcinoma of the parathyroid gland; cdc73-related parathyroid carcinoma; parathyroid adenocarcinoma; parathyroid cancer; parathyroid gland adenocarcinoma; parathyroid gland carcinoma; prtc","Curated_Disease_Description_Source__c":"MONDO:0012004","Curated_Disease_Description__c":"Parathyroid cancer is a rare cancer that usually affects people in their forties or fifties and occurs in one of the four parathyroid glands. The parathyroid glands are located in the neck and secrete parathyroid hormone, which enhances the release of calcium into the blood. In about 90 percent of cases, the early signs of parathyroid cancer are high levels of parathyroid hormone (hyperparathyroidism) and calcium (hypercalcemia) in the blood. In these cases, the cancer is described as hormonally functional because the parathyroid glands are producing excess hormone. Many individuals with hormonally functional parathyroid cancer develop hypercalcemic crisis, in which calcium levels in the blood are very high. Neurological problems can develop, including changes in mood and depression. About 30 percent of individuals with hypercalcemia due to parathyroid cancer develop kidney and skeletal problems. These problems include increased urine production (polyuria), deposits of calcium in the kidneys (nephrocalcinosis) leading to the formation of kidney stones (nephrolithiasis), bone pain, bone loss, and increased bone fractures. Abdominal pain, inflammation of the pancreas (pancreatitis), sores (ulcers) in the lining of the digestive tract, nausea, vomiting, weight loss, and fatigue are also common. About 10 percent of cases of parathyroid cancer are described as hormonally nonfunctional. In these cases, levels of parathyroid hormone and calcium are normal. The signs and symptoms of hormonally nonfunctional parathyroid cancer are related to the tumor obstructing nearby structures in the neck. These problems include difficulty swallowing (dysphagia) and speaking (dysarthria), a hoarse voice, shortness of breath (dyspnea), or vocal cord paralysis. Up to 85 percent of individuals with parathyroid survive at least 5 years after they are diagnosed. The disease recurs in approximately half of individuals. If cancer does recur, it will commonly be within 3 years of the original diagnosis and up to 78 percent of people with recurrent cancer survive at least 5 years. Hormonally nonfunctional parathyroid cancer has a lower survival rate because it is often found at a later stage, as it does not have early signs such as increased calcium and parathyroid hormone levels. In hormonally functional parathyroid cancer, death is usually caused by organ failure (usually kidney failure) due to prolonged hypercalcemia and not directly due to the tumor. In hormonally nonfunctional parathyroid cancer, the cause of death is typically related to the tumor itself, such as its impact on the function of nearby structures or its spread to other tissues (metastasis).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:143","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012004","ORPHANET_ID__c":"ORPHA:143","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Carcinoma de paratiroides","Spanish_Description_Source__c":"ORPHA:143","Spanish_Description__c":"Es un tumor endocrino poco frecuente caracterizado por una neoplasia maligna derivada de células del parénquima paratiroideo, localizada normalmente en una de las glándulas paratiroides o en otros sitios con una posible presencia de tejido paratiroideo. Los signos y síntomas se deben predominantemente a una secreción excesiva de la hormona paratiroidea, con una marcada hipercalcemia y afectación renal y ósea. En algunos casos, el tumor puede ser no funcionante, presentándose únicamente como una masa palpable en la región del cuello. También se observa parálisis del nervio laríngeo recurrente. El tumor puede ocurrir de manera esporádica o por antecedentes genéticos. El grado de invasión de estructuras adyacentes se correlaciona positivamente con el desarrollo de enfermedad recurrente o metastásica.","Spanish_Disease_Name__c":"carcinoma de paratiroides","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":"Parathyroid cancer is a rare cancer that usually affects people in their forties or fifties and occurs in one of the four parathyroid glands. The parathyroid glands are located in the neck and secrete parathyroid hormone, which enhances the release of calcium into the blood. In about 90 percent of cases, the early signs of parathyroid cancer are high levels of parathyroid hormone (hyperparathyroidism) and calcium (hypercalcemia) in the blood. In these cases, the cancer is described as hormonally functional because the parathyroid glands are producing excess hormone. Many individuals with hormonally functional parathyroid cancer develop hypercalcemic crisis, in which calcium levels in the blood are very high. Neurological problems can develop, including changes in mood and depression. About 30 percent of individuals with hypercalcemia due to parathyroid cancer develop kidney and skeletal problems. These problems include increased urine production (polyuria), deposits of calcium in the kidneys (nephrocalcinosis) leading to the formation of kidney stones (nephrolithiasis), bone pain, bone loss, and increased bone fractures. Abdominal pain, inflammation of the pancreas (pancreatitis), sores (ulcers) in the lining of the digestive tract, nausea, vomiting, weight loss, and fatigue are also common. About 10 percent of cases of parathyroid cancer are described as hormonally nonfunctional. In these cases, levels of parathyroid hormone and calcium are normal. The signs and symptoms of hormonally nonfunctional parathyroid cancer are related to the tumor obstructing nearby structures in the neck. These problems include difficulty swallowing (dysphagia) and speaking (dysarthria), a hoarse voice, shortness of breath (dyspnea), or vocal cord paralysis. Up to 85 percent of individuals with parathyroid survive at least 5 years after they are diagnosed. The disease recurs in approximately half of individuals. If cancer does recur, it will commonly be within 3 years of the original diagnosis and up to 78 percent of people with recurrent cancer survive at least 5 years. Hormonally nonfunctional parathyroid cancer has a lower survival rate because it is often found at a later stage, as it does not have early signs such as increased calcium and parathyroid hormone levels. In hormonally functional parathyroid cancer, death is usually caused by organ failure (usually kidney failure) due to prolonged hypercalcemia and not directly due to the tumor. In hormonally nonfunctional parathyroid cancer, the cause of death is typically related to the tumor itself, such as its impact on the function of nearby structures or its spread to other tissues (metastasis).","Curated_Disease_Description_Source__c":"MONDO:0012004","GARD_Synonym__c":"adenocarcinoma of parathyroid; adenocarcinoma of parathyroid gland; adenocarcinoma of the parathyroid; adenocarcinoma of the parathyroid gland; carcinoma of parathyroid; carcinoma of parathyroid gland; carcinoma of the parathyroid; carcinoma of the parathyroid gland; cdc73-related parathyroid carcinoma; parathyroid adenocarcinoma; parathyroid cancer; parathyroid gland adenocarcinoma; parathyroid gland carcinoma; prtc","Name":"Parathyroid carcinoma","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Parathyroid UK","Website__c":"https://parathyroiduk.org/"}],"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":"Endocrine","Tag_Category__c":"Disease Category;Specialist","category_description":"Endocrine diseases affect hormone production or how the body responds to a specific hormone(s).","curated_tag_name":"Endocrine diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:143"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007329","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK3789","Source__c":"Gene Review","Xref__c":"NBK3789"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1540","Source__c":"MONDO:0012004","Xref__c":"DOID:1540"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=146361","Source__c":"C0687150","Xref__c":"MEDGEN:146361"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=255037004","Source__c":"C0687150; MONDO:0012004","Xref__c":"255037004"},{"URL__c":"https://www.orpha.net/en/disease/detail/143","Source__c":"C0687150; MONDO:0012004; ORPHA:143","Xref__c":"ORPHA:143"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4906","Source__c":"C0687150; MONDO:0012004","Xref__c":"C4906"},{"URL__c":"https://www.omim.org/entry/608266","Source__c":"C0687150; MONDO:0012004; ORPHA:143","Xref__c":"OMIM:608266"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0687150","Source__c":"C0687150","Xref__c":"C0687150"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012004","Source__c":"GARD:0007329","Xref__c":"MONDO:0012004"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0006780","Source__c":"C0687150","Xref__c":"HP:0006780"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CDC73","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cdc73","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Excessive thirst manifested by excessive fluid intake.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001959","HPO_Synonym__c":"Extreme thirst","HPO_Name__c":"Polydipsia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012232","HPO_Name__c":"Shortened QT interval","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Procedure_EKG"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Occasional (5-29%)","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:143","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of calculi (stones) in the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000787","HPO_Synonym__c":"Kidney stones; Renal calculi; Renal stones","HPO_Name__c":"Nephrolithiasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004398","HPO_Synonym__c":"Sore in the lining of gastrointestinal tract","HPO_Name__c":"Peptic ulcer","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term \\\"fibroblastic\\\" or \\\"fibromatous\\\" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010614","HPO_Name__c":"Fibroma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002653","HPO_Synonym__c":"Bone pain","HPO_Name__c":"Bone pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of a leiomyoma of the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000131","HPO_Synonym__c":"Benign uterine leiomyomas; Uterine fibroid","HPO_Name__c":"Uterine leiomyoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Infrequent or difficult evacuation of feces.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002019","HPO_Synonym__c":"Constipation; Costiveness; Dyschezia","HPO_Name__c":"Constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A disordered proliferation of mature tissues that are native to the kidneys.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008696","HPO_Name__c":"Renal hamartoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002150","HPO_Synonym__c":"Elevated urine calcium levels; Hypercalcinuria","HPO_Name__c":"Hypercalciuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An intermittent form of abdominal pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002574","HPO_Name__c":"Episodic abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008200","HPO_Name__c":"Primary hyperparathyroidism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200025","HPO_Synonym__c":"Lower jaw pain","HPO_Name__c":"Mandibular pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002667","HPO_Synonym__c":"Wilms tumor","HPO_Name__c":"Nephroblastoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000934","HPO_Synonym__c":"Calcium deposits in joints","HPO_Name__c":"Chondrocalcinosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An abnormally increased calcium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003072","HPO_Synonym__c":"High blood calcium levels; Hypercalcaemia; Increased calcium in blood","HPO_Name__c":"Hypercalcemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a carcinoma of the thyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002890","HPO_Name__c":"Thyroid carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001609","HPO_Synonym__c":"Hoarse voice; Hoarseness; Husky voice","HPO_Name__c":"Hoarse voice","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000083","HPO_Synonym__c":"Renal failure; Renal failure in adulthood","HPO_Name__c":"Renal insufficiency","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased phosphate concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002148","HPO_Synonym__c":"Hypophosphataemia; Low blood phosphate level","HPO_Name__c":"Hypophosphatemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000121","HPO_Synonym__c":"Too much calcium deposited in kidneys","HPO_Name__c":"Nephrocalcinosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A fluid filled sac in the kidney.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000107","HPO_Synonym__c":"Kidney cyst","HPO_Name__c":"Renal cyst","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012032","HPO_Synonym__c":"Fatty lump; Noncancerous fatty lump","HPO_Name__c":"Lipoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a neoplasm of the testis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010788","HPO_Synonym__c":"Testicular tumor","HPO_Name__c":"Testicular neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006780","HPO_Synonym__c":"Parathyroid Cancer","HPO_Name__c":"Parathyroid carcinoma","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the parathyroid gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011766","HPO_Synonym__c":"Abnormality of the parathyroid morphology","HPO_Name__c":"Abnormal parathyroid morphology","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of an adenocarcinoma of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006725","HPO_Name__c":"Pancreatic adenocarcinoma","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of inflammation in the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001733","HPO_Synonym__c":"Pancreatic inflammation","HPO_Name__c":"Pancreatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:143","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increased concentration of parathyroid hormone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003165","HPO_Synonym__c":"Elevated circulating PTH level; Elevated serum parathyroid hormone; Elevated serum parathyroid hormone level; Elevated serum pth; Increased serum parathyroid hormone","HPO_Name__c":"Elevated circulating parathyroid hormone level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Lab"}}],"tags":{"Specialist":["Cancer - Oncologist","Endocrine"],"Disease Category":["Cancer","Endocrine"]},"synonyms":["adenocarcinoma of parathyroid"," adenocarcinoma of parathyroid gland"," adenocarcinoma of the parathyroid"," adenocarcinoma of the parathyroid gland"," carcinoma of parathyroid"," carcinoma of parathyroid gland"," carcinoma of the parathyroid"," carcinoma of the parathyroid gland"," cdc73-related parathyroid carcinoma"," parathyroid adenocarcinoma"," parathyroid cancer"," parathyroid gland adenocarcinoma"," parathyroid gland carcinoma"," prtc"]}