{"Name":"Chondrocalcinosis 1","DiseaseID__c":"GARD:0006048","id":6048,"encodedName":"chondrocalcinosis-1","IsDeleted":false,"Disease_Name_Full__c":"Chondrocalcinosis 1","Xref_IDs__c":"C1833499; C535938; MEDGEN:331527; MONDO:0010917; OMIM:600668","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"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":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:600668","Disease_Description__c":"For a general phenotypic description and a discussion of genetic heterogeneity of chondrocalcinosis, also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), see CCAL2 ({118600}).","GARD_Name__c":"Chondrocalcinosis 1","GARD_Synonym__c":"ccal1; chondrocalcinosis with early-onset osteoarthritis","Curated_Disease_Description_Source__c":"OMIM:600668","Curated_Disease_Description__c":"Chondrocalcinosis-1 (CCAL1) is an autosomal dominant rheumatologic disease caused by mutations on chromosome 8q. It is characterized by deposition of calcium-containing crystals in joint tissue and severe degenerative osteoarthritis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:600668","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010917","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Chondrocalcinosis-1 (CCAL1) is an autosomal dominant rheumatologic disease caused by mutations on chromosome 8q. It is characterized by deposition of calcium-containing crystals in joint tissue and severe degenerative osteoarthritis.","Curated_Disease_Description_Source__c":"OMIM:600668","GARD_Synonym__c":"ccal1; chondrocalcinosis with early-onset osteoarthritis","Name":"Chondrocalcinosis 1","estimateUsa":""}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006048","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535938","Source__c":"MONDO:0010917","Xref__c":"C535938"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1833499","Source__c":"C1833499","Xref__c":"C1833499"},{"URL__c":"https://www.omim.org/entry/600668","Source__c":"C1833499; MONDO:0010917","Xref__c":"OMIM:600668"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331527","Source__c":"C1833499","Xref__c":"MEDGEN:331527"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010917","Source__c":"GARD:0006048","Xref__c":"MONDO:0010917"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:600668","Feature__r":{"HPO_Description__c":"Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002758","HPO_Synonym__c":"Degenerative joint disease","HPO_Name__c":"Osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:600668","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"}}],"tags":{},"synonyms":["ccal1"," chondrocalcinosis with early-onset osteoarthritis"]}