{"Name":"Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans","DiseaseID__c":"GARD:0004133","id":4133,"encodedName":"short-stature-and-advanced-bone-age-with-or-without-early-onset-osteoarthritis-andor-osteochondritis-dissecans","IsDeleted":false,"Disease_Name_Full__c":"Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans","Xref_IDs__c":"C3665488; MEDGEN:777109; MONDO:0100462; ORPHA:251262","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0100462","Disease_Description__c":"Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.","GARD_Name__c":"Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans","GARD_Synonym__c":"familial osteochondritis dissecans; od; osteochondritis dissecans and short stature; osteochondritis dissecans, short stature, and early-onset osteoarthritis; ssoaod","Curated_Disease_Description_Source__c":"GARD:0004133","Curated_Disease_Description__c":"Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas of bone damage (lesions) caused by detachment of cartilage and a piece of the underlying bone from the end of the bone at a joint. People with this condition develop multiple lesions that affect several joints, primarily the knees, elbows, hips, and ankles. The lesions cause stiffness, pain, and swelling in the joint. Often, the affected joint feels like it catches or locks during movement. Other characteristic features of familial osteochondritis dissecans include short stature and development of a joint disorder called osteoarthritis at an early age. Osteoarthritis is characterized by the breakdown of joint cartilage and the underlying bone. It causes pain and stiffness and restricts the movement of joints. A similar condition called sporadic osteochondritis dissecans is associated with a single lesion in one joint, most often the knee. These cases may be caused by injury to or repetitive use of the joint (often sports-related). Some people with sporadic osteochondritis dissecans develop osteoarthritis in the affected joint, especially if the lesion occurs later in life after the bone has stopped growing. Short stature is not associated with this form of the condition.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:251262","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0100462","ORPHANET_ID__c":"ORPHA:251262","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteocondritis disecante familiar","Spanish_Description_Source__c":"ORPHA:251262","Spanish_Description__c":"La osteocondritis disecante familiar es un trastorno esquelético genético raro que se caracteriza clínicamente por: desarrollo condroesquelético anómalo, estatura baja desproporcionada y deformaciones esqueléticas que afectan principalmente a rodillas, caderas, tobillos y codos. La aparición suele darse al final de la infancia o en la adolescencia.","Spanish_Disease_Name__c":"osteocondritis disecante familiar","Spanish_GARD_Synonym__c":"osteocondritis disecante y talla baja","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":"Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas of bone damage (lesions) caused by detachment of cartilage and a piece of the underlying bone from the end of the bone at a joint. People with this condition develop multiple lesions that affect several joints, primarily the knees, elbows, hips, and ankles. The lesions cause stiffness, pain, and swelling in the joint. Often, the affected joint feels like it catches or locks during movement. Other characteristic features of familial osteochondritis dissecans include short stature and development of a joint disorder called osteoarthritis at an early age. Osteoarthritis is characterized by the breakdown of joint cartilage and the underlying bone. It causes pain and stiffness and restricts the movement of joints. A similar condition called sporadic osteochondritis dissecans is associated with a single lesion in one joint, most often the knee. These cases may be caused by injury to or repetitive use of the joint (often sports-related). Some people with sporadic osteochondritis dissecans develop osteoarthritis in the affected joint, especially if the lesion occurs later in life after the bone has stopped growing. Short stature is not associated with this form of the condition.","Curated_Disease_Description_Source__c":"GARD:0004133","GARD_Synonym__c":"familial osteochondritis dissecans; od; osteochondritis dissecans and short stature; osteochondritis dissecans, short stature, and early-onset osteoarthritis; ssoaod","Name":"Short stature and advanced bone age, with or without early-onset osteoarthritis","estimateUsa":""}],"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":"Rheumatology","Tag_Category__c":"Specialist"},{"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:251262"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0029421"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004133","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3665488","Source__c":"C3665488","Xref__c":"C3665488"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=777109","Source__c":"C3665488","Xref__c":"MEDGEN:777109"},{"URL__c":"https://www.orpha.net/en/disease/detail/251262","Source__c":"C3665488; MONDO:0100462; ORPHA:251262","Xref__c":"ORPHA:251262"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715899006","Source__c":"C3665488","Xref__c":"715899006"},{"URL__c":"https://medlineplus.gov/genetics/condition/familial-osteochondritis-dissecans","Source__c":"GARD:0004133","Xref__c":"https://medlineplus.gov/genetics/condition/familial-osteochondritis-dissecans"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0100462","Source__c":"GARD:0004133","Xref__c":"MONDO:0100462"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ACAN","GHR_URL__c":"https://medlineplus.gov/genetics/gene/acan","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Rheumatology","Orthopedics","Pediatrics"]},"synonyms":["familial osteochondritis dissecans"," od"," osteochondritis dissecans and short stature"," osteochondritis dissecans, short stature, and early-onset osteoarthritis"," ssoaod"]}