{"Name":"Osteochondritis of tarsal/metatarsal bone","DiseaseID__c":"GARD:0006842","id":6842,"encodedName":"osteochondritis-of-tarsalmetatarsal-bone","IsDeleted":false,"Disease_Name_Full__c":"Osteochondritis of tarsal/metatarsal bone","Xref_IDs__c":"203392007; C0158444; DOID:11760; MEDGEN:510539; MONDO:0016086; ORPHA:563991","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016086","Disease_Description__c":"A rare bone disease characterized by avascular necrosis of the navicular bone in children. Patients present with sudden unexplained foot pain, inability to bear weight, and limping. Radiographic features include flattening, fragmentation, and patchy sclerosis of the navicular bone. Soft tissue swelling may be associated. The condition is most commonly unilateral and self-limiting. Boys are more often affected than girls.","GARD_Name__c":"Osteochondritis of tarsal/metatarsal bone","GARD_Synonym__c":"aseptic necrosis of the tarsal bone; avascular necrosis of the tarsal bone; juvenile osteochondrosis of foot; juvenile osteochondrosis of the foot; kohler disease; kohler's disease; osteochondrosis of the tarsal bone","Curated_Disease_Description_Source__c":"GARD:0006842","Curated_Disease_Description__c":"Osteochondrosis of the tarsal bone is a condition that affects a bone at the arch of the foot called the tarsal navicular bone. X-rays show that this bone is initially compressed and later breaks into pieces before healing and hardening back into bone. Signs and symptoms of the condition include swelling, redness and/or tenderness of the affected foot which can lead to a limp or abnormal gait (style of walking). Although the exact underlying cause of Osteochondrosis of the tarsal bone is unknown, some scientists suspect that it may be caused by excessive strain on the tarsal navicular bone and its associated blood vessels before the bone is completely ossified (hardened).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child and as a Teenager","SourceID__c":"ORPHA:563991","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016086","ORPHANET_ID__c":"ORPHA:563991","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteocondrosis de hueso tarsiano","Spanish_Description_Source__c":"ORPHA:563991","Spanish_Description__c":"Es una enfermedad ósea poco frecuente caracterizada por necrosis avascular del hueso navicular en niños. Los pacientes se presentan con dolor repentino e inexplicable de los pies, incapacidad para soportar peso y cojera. Las características radiográficas incluyen aplanamiento, fragmentación y áreas de esclerosis parcheada en el hueso navicular. Puede asociar edema de las partes blandas. La afección suele ser unilateral y autolimitada. Los niños se ven más afectados que las niñas.","Spanish_Disease_Name__c":"osteocondrosis de hueso tarsiano","Spanish_GARD_Synonym__c":"enfermedad de kohler; necrosis aséptica de hueso tarsiano; necrosis avascular de hueso tarsiano","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":"Osteochondrosis of the tarsal bone is a condition that affects a bone at the arch of the foot called the tarsal navicular bone. X-rays show that this bone is initially compressed and later breaks into pieces before healing and hardening back into bone. Signs and symptoms of the condition include swelling, redness and/or tenderness of the affected foot which can lead to a limp or abnormal gait (style of walking). Although the exact underlying cause of Osteochondrosis of the tarsal bone is unknown, some scientists suspect that it may be caused by excessive strain on the tarsal navicular bone and its associated blood vessels before the bone is completely ossified (hardened).","Curated_Disease_Description_Source__c":"GARD:0006842","GARD_Synonym__c":"aseptic necrosis of the tarsal bone; avascular necrosis of the tarsal bone; juvenile osteochondrosis of foot; juvenile osteochondrosis of the foot; kohler disease; kohler's disease; osteochondrosis of the tarsal bone","Name":"Osteochondritis of tarsal/metatarsal bone","estimateUsa":""}],"GARD_Disease_Tag__c":[{"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:563991"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:563991"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=203392007","Source__c":"C0158444; MONDO:0016086","Xref__c":"203392007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=510539","Source__c":"C0158444","Xref__c":"MEDGEN:510539"},{"URL__c":"https://www.orpha.net/en/disease/detail/563991","Source__c":"C0158444; MONDO:0016086","Xref__c":"ORPHA:563991"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0158444","Source__c":"C0158444","Xref__c":"C0158444"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11760","Source__c":"MONDO:0016086","Xref__c":"DOID:11760"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016086","Source__c":"GARD:0006842","Xref__c":"MONDO:0016086"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:563991","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of cartilage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100662","HPO_Synonym__c":"Cartilage inflammation","HPO_Name__c":"Chondritis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:563991","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031955","HPO_Name__c":"Antalgic gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:563991","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the formation and mineralization of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008369","HPO_Synonym__c":"Abnormal ossification of tarsal bones; Hardening of ankle bones","HPO_Name__c":"Abnormal tarsal ossification","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:563991","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031051","HPO_Name__c":"Tarsal sclerosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:563991","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008131","HPO_Synonym__c":"Punctate calcifications of tarsals; Punctate tarsal calcification","HPO_Name__c":"Tarsal stippling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:563991","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001369","HPO_Synonym__c":"Arthritis; Joint inflammation","HPO_Name__c":"Arthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:563991","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030840","HPO_Synonym__c":"Ankle pain","HPO_Name__c":"Ankle pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:563991","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025238","HPO_Synonym__c":"Foot pain","HPO_Name__c":"Foot pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:563991","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010741","HPO_Synonym__c":"Edema of the lower limbs; Fluid accumulation in lower limbs; Leg edema; Lower leg swelling; Peripheral edema of lower extremity","HPO_Name__c":"Pedal edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:563991","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008144","HPO_Name__c":"Flattening of the talar dome","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:563991","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010886","HPO_Synonym__c":"Osteochondrosis dissecans","HPO_Name__c":"Osteochondritis dissecans","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:563991","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Juvenile aseptic necrosis comprises a group of orthopedic diseases characterized by interruption of the blood supply of a bone, followed by localized bony necrosis most often of the epiphyses of bones of children or teenagers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100323","HPO_Name__c":"Juvenile aseptic necrosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:563991","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"tags":{"Specialist":["Rheumatology","Orthopedics","Pediatrics"]},"synonyms":["aseptic necrosis of the tarsal bone"," avascular necrosis of the tarsal bone"," juvenile osteochondrosis of foot"," juvenile osteochondrosis of the foot"," kohler disease"," kohler's disease"," osteochondrosis of the tarsal bone"]}