{"Name":"Freiberg disease","DiseaseID__c":"GARD:0002380","id":2380,"encodedName":"freiberg-disease","IsDeleted":false,"Disease_Name_Full__c":"Freiberg disease","Xref_IDs__c":"28466007; C0264099; C535636; MEDGEN:75532; MONDO:0023188; ORPHA:564003","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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0023188","Disease_Description__c":"Freiberg's disease is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Although people of all ages can be affected by this condition, Freiberg's disease is most commonly diagnosed during adolescence through the second decade of life. Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of Freiberg's disease is currently unknown. Treatment depends on many factors, including the severity of condition; the signs and symptoms present; and the age of the patient.","GARD_Name__c":"Freiberg disease","GARD_Synonym__c":"avascular necrosis of the metatarsal bone; freiberg infraction; freiberg-kohler syndrome; freiberg's disease; freiberg's infraction; juvenile osteochondrosis of second metatarsal; osteochondrosis of the metatarsal bone; osteochondrosis of the metatarsal head, usually the second; second metatarsal osteochondrosis","Curated_Disease_Description_Source__c":"GARD:0002380","Curated_Disease_Description__c":"Osteochondrosis of the metatarsal bone is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of osteochondrosis of the metatarsal bone is currently unknown.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:564003","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0023188","ORPHANET_ID__c":"ORPHA:564003","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteocondrosis de hueso metatarsiano","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"osteocondrosis de hueso metatarsiano","Spanish_GARD_Synonym__c":"enfermedad de freiberg; infracción de freiberg; necrosis avascular de hueso metatarsiano","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 metatarsal bone is rare condition that primarily affects the second or third metatarsal (the long bones of the foot). Common signs and symptoms include pain and stiffness in the front of the foot, which often leads to a limp. Affected people may also experience swelling, limited range of motion, and tenderness of the affected foot. Symptoms are generally triggered by weight-bearing activities, including walking. The exact underlying cause of osteochondrosis of the metatarsal bone is currently unknown.","Curated_Disease_Description_Source__c":"GARD:0002380","GARD_Synonym__c":"avascular necrosis of the metatarsal bone; freiberg infraction; freiberg-kohler syndrome; freiberg's disease; freiberg's infraction; juvenile osteochondrosis of second metatarsal; osteochondrosis of the metatarsal bone; osteochondrosis of the metatarsal head, usually the second; second metatarsal osteochondrosis","Name":"Freiberg disease","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":"Adult","Provided_By__c":"ORPHA:564003"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:564003"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=28466007","Source__c":"C0264099; MONDO:0023188","Xref__c":"28466007"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75532","Source__c":"C0264099","Xref__c":"MEDGEN:75532"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535636","Source__c":"MONDO:0023188","Xref__c":"C535636"},{"URL__c":"https://www.orpha.net/en/disease/detail/564003","Source__c":"C0264099; MONDO:0023188; ORPHA:564003","Xref__c":"ORPHA:564003"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0264099","Source__c":"C0264099","Xref__c":"C0264099"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0023188","Source__c":"GARD:0002380","Xref__c":"MONDO:0023188"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:564003","HPO_Frequency__c":"Frequent (30-79%)","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:564003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation in bone density in one or more foot bones. Sclerosis is normally detected on a radiograph as an area of increased opacity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100925","HPO_Synonym__c":"Increased bone density in foot bone; Sclerosis of bones of the feet","HPO_Name__c":"Sclerosis of foot bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:564003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally flat shape of the heads of the metatarsal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005194","HPO_Synonym__c":"Flattened head of long bone of foot","HPO_Name__c":"Flattened metatarsal heads","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:564003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040188","HPO_Name__c":"Osteochondrosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:564003","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:564003","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:564003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:564003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:564003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100039","HPO_Name__c":"Thickened cortex of bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:564003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040034","HPO_Synonym__c":"Abnormality of the 2nd long bone of foot","HPO_Name__c":"Abnormality of the second metatarsal bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:564003","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:564003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:564003","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040035","HPO_Synonym__c":"Abnormality of the 4th long bone of foot","HPO_Name__c":"Abnormality of the fourth metatarsal bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:564003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005187","HPO_Name__c":"Progressive joint destruction","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:564003","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An anomaly of the fifth metatarsal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008089","HPO_Synonym__c":"Abnormality of the 5th long bone of foot","HPO_Name__c":"Abnormality of the fifth metatarsal bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:564003","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the third metatarsal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010672","HPO_Synonym__c":"Abnormality of the 3rd long bone of foot","HPO_Name__c":"Abnormality of the third metatarsal bone","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:564003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any abnormality of a metatarsal bone epiphysis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010630","HPO_Synonym__c":"Abnormality of end part of long bone of foot; Abnormality of metatarsal epiphysis; Abnormality of the epiphyses of the metatarsals","HPO_Name__c":"Abnormal metatarsal epiphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:564003","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"}},{"Provided_By__c":"ORPHA:564003","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010219","HPO_Name__c":"Structural foot deformity","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Rheumatology","Orthopedics","Pediatrics"]},"synonyms":["avascular necrosis of the metatarsal bone"," freiberg infraction"," freiberg-kohler syndrome"," freiberg's disease"," freiberg's infraction"," juvenile osteochondrosis of second metatarsal"," osteochondrosis of the metatarsal bone"," osteochondrosis of the metatarsal head, usually the second"," second metatarsal osteochondrosis"]}