{"Name":"Carpotarsal osteochondromatosis","DiseaseID__c":"GARD:0001128","id":1128,"encodedName":"carpotarsal-osteochondromatosis","IsDeleted":false,"Disease_Name_Full__c":"Carpotarsal osteochondromatosis","Xref_IDs__c":"389272007; C1851956; C565076; MEDGEN:377557; MONDO:0007490; OMIM:127820; ORPHA:2767","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:0007490","Disease_Description__c":"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.","GARD_Name__c":"Carpotarsal osteochondromatosis","GARD_Synonym__c":"dysplasia epiphysealis hemimelica with chondromas and osteochondromas; maroteaux le-merrer bensahel syndrome; maroteaux-le merrer-bensahel syndrome","Curated_Disease_Description_Source__c":"MONDO:0007490","Curated_Disease_Description__c":"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:2767","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007490","ORPHANET_ID__c":"ORPHA:2767","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteocondromatosis carpotarsiana","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"osteocondromatosis carpotarsiana","Spanish_GARD_Synonym__c":"síndrome de maroteaux-le merrer-bensahel","Category_Linearization__c":"ORPHA:93419","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":"Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder characterized by abnormal bone proliferation and osteochondromas in the upper and lower limbs.","Curated_Disease_Description_Source__c":"MONDO:0007490","GARD_Synonym__c":"dysplasia epiphysealis hemimelica with chondromas and osteochondromas; maroteaux le-merrer bensahel syndrome; maroteaux-le merrer-bensahel syndrome","Name":"Carpotarsal osteochondromatosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2767"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1851956","Source__c":"C1851956","Xref__c":"C1851956"},{"URL__c":"https://www.orpha.net/en/disease/detail/2767","Source__c":"C1851956; MONDO:0007490; ORPHA:2767","Xref__c":"ORPHA:2767"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=389272007","Source__c":"C1851956; MONDO:0007490","Xref__c":"389272007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=377557","Source__c":"C1851956","Xref__c":"MEDGEN:377557"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565076","Source__c":"MONDO:0007490","Xref__c":"C565076"},{"URL__c":"https://www.omim.org/entry/127820","Source__c":"C1851956; MONDO:0007490; ORPHA:2767","Xref__c":"OMIM:127820"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007490","Source__c":"GARD:0001128","Xref__c":"MONDO:0007490"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"]},"synonyms":["dysplasia epiphysealis hemimelica with chondromas and osteochondromas"," maroteaux le-merrer bensahel syndrome"," maroteaux-le merrer-bensahel syndrome"]}