{"Name":"Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome","DiseaseID__c":"GARD:0010879","id":10879,"encodedName":"familial-hyperphosphatemic-tumoral-calcinosishyperphosphatemic-hyperostosis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome","Xref_IDs__c":"C131851; C1876187; DOID:0111063; MEDGEN:360297; MONDO:0100251; ORPHA:306661","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":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:306661","Disease_Description__c":"A rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. It can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.","GARD_Name__c":"Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome","GARD_Synonym__c":"cortical hyperostosis with hyperphosphatemia; familial teutschlaender disease; hftc; hypercalcemic tumoral calcinosis; hyperostosis with hyperphosphatemia; hyperphosphatemia hyperostosis; hyperphosphatemia hyperostosis syndrome; hyperphosphatemia tumoral calcinosis; hyperphosphatemic familial tumoral calcinosis; lipocalcinogranulomatosis; morbus teutschlaender; phptc; primary hyperphosphatemic tumoral calcinosis; tumoral calcinosis with hyperphosphatemia; tumoral calcinosis, hyperphosphatemic, familial","Curated_Disease_Description_Source__c":"ORPHA:306661","Curated_Disease_Description__c":"A rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. It can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:306661","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0100251","ORPHANET_ID__c":"ORPHA:306661","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome familiar de calcinosis tumoral hiperfosfatémica/hiperostosis hiperfosfatémica","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome familiar de calcinosis tumoral hiperfosfatémica/hiperostosis hiperfosfatémica","Spanish_GARD_Synonym__c":"calcinosis tumoral hipercalcémica","Category_Linearization__c":"ORPHA:89826","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 rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. It can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.","Curated_Disease_Description_Source__c":"ORPHA:306661","GARD_Synonym__c":"cortical hyperostosis with hyperphosphatemia; familial teutschlaender disease; hftc; hypercalcemic tumoral calcinosis; hyperostosis with hyperphosphatemia; hyperphosphatemia hyperostosis; hyperphosphatemia hyperostosis syndrome; hyperphosphatemia tumoral calcinosis; hyperphosphatemic familial tumoral calcinosis; lipocalcinogranulomatosis; morbus teutschlaender; phptc; primary hyperphosphatemic tumoral calcinosis; tumoral calcinosis with hyperphosphatemia; tumoral calcinosis, hyperphosphatemic, familial","Name":"Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syn","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"}],"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":"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":"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":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic 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"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010879","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK476672","Source__c":"Gene Review","Xref__c":"NBK476672"},{"URL__c":"https://www.orpha.net/en/disease/detail/306661","Source__c":"C1876187; MONDO:0100251","Xref__c":"ORPHA:306661"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1876187","Source__c":"C1876187","Xref__c":"C1876187"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111063","Source__c":"MONDO:0100251","Xref__c":"DOID:0111063"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=360297","Source__c":"C1876187","Xref__c":"MEDGEN:360297"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131851","Source__c":"C1876187; MONDO:0100251","Xref__c":"C131851"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100251","Source__c":"GARD:0010879","Xref__c":"MONDO:0100251"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=860796007","Source__c":"C1876187","Xref__c":"860796007"},{"URL__c":"https://medlineplus.gov/genetics/condition/hyperphosphatemic-familial-tumoral-calcinosis"},{"URL__c":"https://medlineplus.gov/genetics/condition/hyperphosphatemic-familial-tumoral-calcinosis","Source__c":"GARD:0010879","Xref__c":"https://medlineplus.gov/genetics/condition/hyperphosphatemic-familial-tumoral-calcinosis"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KL","GHR_URL__c":"https://medlineplus.gov/genetics/gene/kl","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"FGF23","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fgf23","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GALNT3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/galnt3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Endocrine","Dermatology","Orthopedics"],"Disease Category":["Cancer","Genetics","Endocrine","Dermatology","Inborn Errors of Metabolism","Congenital Abnormality"],"Cause":["Genetics","Inborn Errors of Metabolism"],"Account":["Dermatology"]},"synonyms":["cortical hyperostosis with hyperphosphatemia"," familial teutschlaender disease"," hftc"," hypercalcemic tumoral calcinosis"," hyperostosis with hyperphosphatemia"," hyperphosphatemia hyperostosis"," hyperphosphatemia hyperostosis syndrome"," hyperphosphatemia tumoral calcinosis"," hyperphosphatemic familial tumoral calcinosis"," lipocalcinogranulomatosis"," morbus teutschlaender"," phptc"," primary hyperphosphatemic tumoral calcinosis"," tumoral calcinosis with hyperphosphatemia"," tumoral calcinosis, hyperphosphatemic, familial"],"spanishId":13697,"spanishName":"calcinosis-tumoral-familiar-hiperfosfatemica"}