{"Name":"Genochondromatosis type 2","DiseaseID__c":"GARD:0016820","id":16820,"encodedName":"genochondromatosis-type-2","IsDeleted":false,"Disease_Name_Full__c":"Genochondromatosis type 2","Xref_IDs__c":"725904009; C4511481; MEDGEN:1374044; MONDO:0019680; ORPHA:93398","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019680","Disease_Description__c":"Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.","GARD_Name__c":"Genochondromatosis type 2","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0019680","Curated_Disease_Description__c":"Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:93398","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019680","ORPHANET_ID__c":"ORPHA:93398","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Genocondromatosis tipo 2","Spanish_Description_Source__c":"ORPHA:93398","Spanish_Description__c":"La genocondromatosis tipo 2 es un trastorno genético poco frecuente del desarrollo óseo caracterizado por clavículas normales y encondromas metafisarios simétricos generalizados, particularmente en el fémur distal, el húmero proximal y los huesos de las muñecas, manos y pies. Las lesiones revierten más tarde en la vida con la obliteración del crecimiento del cartílago. La exploración clínica es normal y el curso de la enfermedad es benigno.","Spanish_Disease_Name__c":"genocondromatosis tipo 2","Spanish_GARD_Synonym__c":null,"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":"Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.","Curated_Disease_Description_Source__c":"MONDO:0019680","Name":"Genochondromatosis type 2","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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:93398"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1374044","Source__c":"C4511481","Xref__c":"MEDGEN:1374044"},{"URL__c":"https://www.orpha.net/en/disease/detail/93398","Source__c":"C4511481; MONDO:0019680; ORPHA:93398","Xref__c":"ORPHA:93398"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4511481","Source__c":"C4511481","Xref__c":"C4511481"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725904009","Source__c":"C4511481; MONDO:0019680","Xref__c":"725904009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019680","Source__c":"GARD:0016820","Xref__c":"MONDO:0019680"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":[""]}