{"Name":"Familial hypocalciuric hypercalcemia 2","DiseaseID__c":"GARD:0009758","id":9758,"encodedName":"familial-hypocalciuric-hypercalcemia-2","IsDeleted":false,"Disease_Name_Full__c":"Familial hypocalciuric hypercalcemia 2","Xref_IDs__c":"C1840347; C537146; DOID:0060701; MEDGEN:374447; MONDO:0007792; OMIM:145981; ORPHA:101049","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007792","Disease_Description__c":"A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.","GARD_Name__c":"Familial hypocalciuric hypercalcemia 2","GARD_Synonym__c":"familial benign hypercalcemia, type ii; familial hypocalciuric hypercalcemia type 2; fhh type 2; hhc2; hpocalciuric hypercalcemia, type ii; hypocalciuric hypercalcemia type ii; hypocalciuric hypercalcemia, familial, type ii; hypocalciuric hypercalcemia, type ii","Curated_Disease_Description_Source__c":"MONDO:0007792","Curated_Disease_Description__c":"A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:101049","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007792","ORPHANET_ID__c":"ORPHA:101049","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipercalcemia hipocalciúrica familiar tipo 2","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hipercalcemia hipocalciúrica familiar tipo 2","Spanish_GARD_Synonym__c":"fhh tipo 2","Category_Linearization__c":"ORPHA:97978","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":"A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.","Curated_Disease_Description_Source__c":"MONDO:0007792","GARD_Synonym__c":"familial benign hypercalcemia, type ii; familial hypocalciuric hypercalcemia type 2; fhh type 2; hhc2; hpocalciuric hypercalcemia, type ii; hypocalciuric hypercalcemia type ii; hypocalciuric hypercalcemia, familial, type ii; hypocalciuric hypercalcemia, type ii","Name":"Familial hypocalciuric hypercalcemia 2","estimateUsa":""}],"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":"Pulmonology","Tag_Category__c":"Disease Category;Specialist","category_description":"Respiratory diseases affect the nose, mouth, throat, voice box, windpipe, lungs, or blood vessels.","curated_tag_name":"Respiratory diseases"},{"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"},{"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":"Orthopedics","Tag_Category__c":"Specialist"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1840347"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009758","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/145981","Source__c":"C1840347; MONDO:0007792; ORPHA:101049","Xref__c":"OMIM:145981"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537146","Source__c":"MONDO:0007792","Xref__c":"C537146"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1840347","Source__c":"C1840347","Xref__c":"C1840347"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060701","Source__c":"MONDO:0007792","Xref__c":"DOID:0060701"},{"URL__c":"https://www.orpha.net/en/disease/detail/101049","Source__c":"C1840347; MONDO:0007792; ORPHA:101049","Xref__c":"ORPHA:101049"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=374447","Source__c":"C1840347","Xref__c":"MEDGEN:374447"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007792","Source__c":"GARD:0009758","Xref__c":"MONDO:0007792"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GNA11","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gna11","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:145981","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":"OMIM:145981","Feature__r":{"HPO_Description__c":"The presence of multiple lipomas (a type of benign tissue made of fatty tissue).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001012","HPO_Synonym__c":"Lipomata; Multiple fatty lumps","HPO_Name__c":"Multiple lipomas","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:145981","Feature__r":{"HPO_Description__c":"An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003529","HPO_Synonym__c":"Parathormone-independent increased renal tubular Ca reabsorption; Parathormone-independent increased renal tubular Ca2+ reabsorption","HPO_Name__c":"Parathormone-independent increased renal tubular calcium reabsorption","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:145981","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":"OMIM:145981","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":"OMIM:145981","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:145981","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased magnesium concentration in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002918","HPO_Synonym__c":"High blood magnesium levels; High blood Mg levels","HPO_Name__c":"Hypermagnesemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:145981","Feature__r":{"HPO_Description__c":"An abnormally decreased calcium concentration in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003127","HPO_Synonym__c":"Low urine calcium levels","HPO_Name__c":"Hypocalciuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:145981","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":"OMIM:145981","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Pulmonology","Endocrine","Congenital Abnormality"],"Specialist":["Genetics","Pulmonology","Endocrine","Orthopedics"]},"synonyms":["familial benign hypercalcemia, type ii"," familial hypocalciuric hypercalcemia type 2"," fhh type 2"," hhc2"," hpocalciuric hypercalcemia, type ii"," hypocalciuric hypercalcemia type ii"," hypocalciuric hypercalcemia, familial, type ii"," hypocalciuric hypercalcemia, type ii"]}