{"Name":"Familial osteoarthropathy of the fingers","DiseaseID__c":"GARD:0004131","id":4131,"encodedName":"familial-osteoarthropathy-of-the-fingers","IsDeleted":false,"Disease_Name_Full__c":"Familial osteoarthropathy of the fingers","Xref_IDs__c":"55166000; C0264081; C537144; MEDGEN:82674; MONDO:0008142; OMIM:165700; ORPHA:3314","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008142","Disease_Description__c":"A very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.","GARD_Name__c":"Familial osteoarthropathy of the fingers","GARD_Synonym__c":"aseptic necrosis of phalangeal epiphyses; familial osteoarthropathy of fingers; osteochondritis of phalangeal epiphyses; osteochondrosis of phalangeal epiphyses; thiemann disease; thiemann disease familial form; thiemann disease, familial form; thiemann syndrome; thiemann's disease","Curated_Disease_Description_Source__c":"MONDO:0008142","Curated_Disease_Description__c":"A very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager","SourceID__c":"ORPHA:3314","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008142","ORPHANET_ID__c":"ORPHA:3314","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de thiemann forma familiar","Spanish_Description_Source__c":"ORPHA:3314","Spanish_Description__c":"Es un trastorno óseo necrótico genético muy poco frecuente que se caracteriza clínicamente por hinchazón indolora de las articulaciones interfalángicas proximales asociado con osteonecrosis de la epífisis y seguido por cambios osteoartríticos, con una aparición anterior a los 25 años de edad y a menudo de curso benigno.","Spanish_Disease_Name__c":"enfermedad de thiemann forma familiar","Spanish_GARD_Synonym__c":"necrosis aséptica de la epífisis de las falanges; osteocondrosis de la epífisis de las falanges","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":"A very rare genetic necrotic bone disorder characterized clinically by painless swelling of the proximal interphalangeal joints associated with osteonecrosis of epiphyses followed by osteoarthritic changes, with onset before 25 years of age and often a benign course.","Curated_Disease_Description_Source__c":"MONDO:0008142","GARD_Synonym__c":"aseptic necrosis of phalangeal epiphyses; familial osteoarthropathy of fingers; osteochondritis of phalangeal epiphyses; osteochondrosis of phalangeal epiphyses; thiemann disease; thiemann disease familial form; thiemann disease, familial form; thiemann syndrome; thiemann's disease","Name":"Familial osteoarthropathy of the fingers","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":"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":"Adolescent","Provided_By__c":"ORPHA:3314"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537144","Source__c":"MONDO:0008142","Xref__c":"C537144"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0264081","Source__c":"C0264081","Xref__c":"C0264081"},{"URL__c":"https://www.omim.org/entry/165700","Source__c":"C0264081; MONDO:0008142; ORPHA:3314","Xref__c":"OMIM:165700"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82674","Source__c":"C0264081","Xref__c":"MEDGEN:82674"},{"URL__c":"https://www.orpha.net/en/disease/detail/3314","Source__c":"C0264081; MONDO:0008142; ORPHA:3314","Xref__c":"ORPHA:3314"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=55166000","Source__c":"C0264081; MONDO:0008142","Xref__c":"55166000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008142","Source__c":"GARD:0004131","Xref__c":"MONDO:0008142"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3314","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000944","HPO_Synonym__c":"Abnormality of the wide portion of a long bone","HPO_Name__c":"Abnormal metaphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3314","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005930","HPO_Synonym__c":"Abnormal shape of end part of bone; Abnormality of epiphysis morphology; Abnormality of the epiphyses; Anomaly of the epiphyses; Epiphyseal abnormality","HPO_Name__c":"Abnormal epiphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3314","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3314","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010885","HPO_Synonym__c":"Aseptic bone necrosis; Aseptic necrosis; Bone infarction; Death of bone due to decreased blood supply; Ischemic bone necrosis; Osteochondronecrosis; Osteonecrosis","HPO_Name__c":"Avascular necrosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3314","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Rheumatology","Orthopedics","Pediatrics"]},"synonyms":["aseptic necrosis of phalangeal epiphyses"," familial osteoarthropathy of fingers"," osteochondritis of phalangeal epiphyses"," osteochondrosis of phalangeal epiphyses"," thiemann disease"," thiemann disease familial form"," thiemann disease, familial form"," thiemann syndrome"," thiemann's disease"]}