{"Name":"Genochondromatosis type 1","DiseaseID__c":"GARD:0016741","id":16741,"encodedName":"genochondromatosis-type-1","IsDeleted":false,"Disease_Name_Full__c":"Genochondromatosis type 1","Xref_IDs__c":"1003427004; C5438970; MEDGEN:1761731; MONDO:0019411; ORPHA:85197","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":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019411","Disease_Description__c":"A rare disorder characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. The clinical course is benign.","GARD_Name__c":"Genochondromatosis type 1","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:85197","Curated_Disease_Description__c":"Genochondromatosis type 1 is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:85197","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019411","ORPHANET_ID__c":"ORPHA:85197","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Genocondromatosis tipo 1","Spanish_Description_Source__c":"ORPHA:85197","Spanish_Description__c":"Es un trastorno poco frecuente caracterizado por condromatosis que suele afectar a las clavículas, al extremo superior del húmero y al extremo inferior del fémur. Las lesiones son bilaterales y simétricas. El curso clínico es benigno.","Spanish_Disease_Name__c":"genocondromatosis tipo 1","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 1 is characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. It is transmitted as an autosomal dominant trait. Another disorder, genochondromatosis II, shows strong similarities to genochondromatosis but is characterized by the involvement of the short tubular bones and by normal clavicles. Genochondromatosis II may also be inherited as an autosomal dominant trait. Genochondromatosis has a benign clinical course.","Curated_Disease_Description_Source__c":"ORPHA:85197","Name":"Genochondromatosis type 1","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:85197"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5438970","Source__c":"C5438970","Xref__c":"C5438970"},{"URL__c":"https://www.orpha.net/en/disease/detail/85197","Source__c":"C5438970; MONDO:0019411; ORPHA:85197","Xref__c":"ORPHA:85197"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1761731","Source__c":"C5438970","Xref__c":"MEDGEN:1761731"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1003427004","Source__c":"C5438970","Xref__c":"1003427004"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019411","Source__c":"GARD:0016741","Xref__c":"MONDO:0019411"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85197","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005701","HPO_Name__c":"Multiple enchondromatosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85197","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the knee joint or surrounding structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002815","HPO_Synonym__c":"Abnormality of the knee","HPO_Name__c":"Abnormality of the knee","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85197","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the clavicles (collar bones).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000889","HPO_Synonym__c":"Abnormal clavicles; Abnormal collarbone; Abnormality of the clavicle","HPO_Name__c":"Abnormal clavicle morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":[""]}