{"Name":"Normophosphatemic familial tumoral calcinosis","DiseaseID__c":"GARD:0010878","id":10878,"encodedName":"normophosphatemic-familial-tumoral-calcinosis","IsDeleted":false,"Disease_Name_Full__c":"Normophosphatemic familial tumoral calcinosis","Xref_IDs__c":"C1864861; C566473; DOID:0080170; MEDGEN:355311; MONDO:0012502; OMIM:610455; ORPHA:306658","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":6,"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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:306658","Disease_Description__c":null,"GARD_Name__c":"Normophosphatemic familial tumoral calcinosis","GARD_Synonym__c":"calcinosis, tumoral, with normophosphatemia; familial normophosphatemic tumoral calcinosis; normocalcemic tumoral calcinosis; tumoral calcinosis, familial, normophosphatemic","Curated_Disease_Description_Source__c":"OMIM:610455","Curated_Disease_Description__c":"Familial normophosphatemic tumoral calcinosis (NFTC) is caused by homozygous or compound heterozygous mutation in the SAMD9 gene on chromosome 7q21.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:306658","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012502","ORPHANET_ID__c":"ORPHA:306658","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Calcinosis tumoral normofosfatémica familiar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"calcinosis tumoral normofosfatémica familiar","Spanish_GARD_Synonym__c":null,"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":"Familial normophosphatemic tumoral calcinosis (NFTC) is caused by homozygous or compound heterozygous mutation in the SAMD9 gene on chromosome 7q21.","Curated_Disease_Description_Source__c":"OMIM:610455","GARD_Synonym__c":"calcinosis, tumoral, with normophosphatemia; familial normophosphatemic tumoral calcinosis; normocalcemic tumoral calcinosis; tumoral calcinosis, familial, normophosphatemic","Name":"Normophosphatemic familial tumoral calcinosis","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":"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":"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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:306658"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010878","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/610455","Source__c":"C1864861; MONDO:0012502; ORPHA:306658","Xref__c":"OMIM:610455"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080170","Source__c":"MONDO:0012502","Xref__c":"DOID:0080170"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355311","Source__c":"C1864861","Xref__c":"MEDGEN:355311"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566473","Source__c":"MONDO:0012502","Xref__c":"C566473"},{"URL__c":"https://www.orpha.net/en/disease/detail/306658","Source__c":"C1864861; MONDO:0012502; ORPHA:306658","Xref__c":"ORPHA:306658"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864861","Source__c":"C1864861","Xref__c":"C1864861"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012502","Source__c":"GARD:0010878","Xref__c":"MONDO:0012502"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1162852008","Source__c":"C1864861","Xref__c":"1162852008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SAMD9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610455","Feature__r":{"HPO_Description__c":"Inflammation of the gingiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000230","HPO_Synonym__c":"Gingival inflammation; Inflamed gums; Red and swollen gums","HPO_Name__c":"Gingivitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610455","Feature__r":{"HPO_Description__c":"Inflammation of the conjunctiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000509","HPO_Synonym__c":"Pink eye","HPO_Name__c":"Conjunctivitis","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610455","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Deposition of calcium in the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025520","HPO_Synonym__c":"Cutaneous calcification","HPO_Name__c":"Calcinosis cutis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Endocrine","Dermatology","Orthopedics","Pediatrics"],"Disease Category":["Cancer","Genetics","Endocrine","Dermatology","Congenital Abnormality"],"Cause":["Genetics"],"Account":["Dermatology"]},"synonyms":["calcinosis, tumoral, with normophosphatemia"," familial normophosphatemic tumoral calcinosis"," normocalcemic tumoral calcinosis"," tumoral calcinosis, familial, normophosphatemic"]}