{"Name":"Axial osteosclerosis","DiseaseID__c":"GARD:0000391","id":391,"encodedName":"axial-osteosclerosis","IsDeleted":false,"Disease_Name_Full__c":"Axial osteosclerosis","Xref_IDs__c":"254125009; C0432264; C537792; MEDGEN:98482; MONDO:0008155; OMIM:166450; ORPHA:2777","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0008155","Disease_Description__c":"Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content.","GARD_Name__c":"Axial osteosclerosis","GARD_Synonym__c":"osteomesopycnosis; osteomesopyknosis","Curated_Disease_Description_Source__c":"GARD:0000391","Curated_Disease_Description__c":"Osteomesopyknosis is a bone disorder characterized by abnormal hardening of bone (osteosclerosis). It is generally limited to the axial spine, pelvis, and proximal part of the long bones, which is what distinguishes this condition from other sclerosing bone disorders. It is usually diagnosed incidentally in individuals complaining of back pain. Osteomesopyknosis is inherited in an autosomal dominant manner but the genetic cause has not yet been identified.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:2777","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008155","ORPHANET_ID__c":"ORPHA:2777","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteomesopicnosis","Spanish_Description_Source__c":"ORPHA:2777","Spanish_Description__c":"La osteomesopicnosis es un trastorno óseo benigno muy raro, caracterizado por una displasia ósea que se manifiesta por una esclerosis irregular del esqueleto axial y un incremento del contenido mineral de los huesos.","Spanish_Disease_Name__c":"osteomesopicnosis","Spanish_GARD_Synonym__c":"osteosclerosis axial","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":"Osteomesopyknosis is a bone disorder characterized by abnormal hardening of bone (osteosclerosis). It is generally limited to the axial spine, pelvis, and proximal part of the long bones, which is what distinguishes this condition from other sclerosing bone disorders. It is usually diagnosed incidentally in individuals complaining of back pain. Osteomesopyknosis is inherited in an autosomal dominant manner but the genetic cause has not yet been identified.","Curated_Disease_Description_Source__c":"GARD:0000391","GARD_Synonym__c":"osteomesopycnosis; osteomesopyknosis","Name":"Axial osteosclerosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Chronic Pain Association","Website__c":"https://www.acpanow.com/"}],"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":"Adult","Provided_By__c":"ORPHA:2777"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2777"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2777"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98482","Source__c":"C0432264","Xref__c":"MEDGEN:98482"},{"URL__c":"https://www.omim.org/entry/166450","Source__c":"C0432264; MONDO:0008155; ORPHA:2777","Xref__c":"OMIM:166450"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0432264","Source__c":"C0432264","Xref__c":"C0432264"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537792","Source__c":"MONDO:0008155","Xref__c":"C537792"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=254125009","Source__c":"C0432264; MONDO:0008155","Xref__c":"254125009"},{"URL__c":"https://www.orpha.net/en/disease/detail/2777","Source__c":"C0432264; MONDO:0008155; ORPHA:2777","Xref__c":"ORPHA:2777"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008155","Source__c":"GARD:0000391","Xref__c":"MONDO:0008155"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2777","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003103","HPO_Synonym__c":"Abnormal compact bone morphology; Abnormality of cortical bone","HPO_Name__c":"Abnormal cortical bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2777","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal morphology of vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003312","HPO_Synonym__c":"Abnormal vertebral bodies; Abnormally shaped vertebrae","HPO_Name__c":"Abnormal form of the vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2777","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011001","HPO_Synonym__c":"Increased bone density; Increased bone mineral density; Osteosclerosis; Osteosclerosis of bones","HPO_Name__c":"Increased bone mineral density","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2777","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001939","HPO_Synonym__c":"Laboratory abnormality; Metabolism abnormality","HPO_Name__c":"Abnormality of metabolism/homeostasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2777","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increase in bone density of the vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100861","HPO_Synonym__c":"Vertebral body sclerosis","HPO_Name__c":"Sclerotic vertebral body","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2777","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2777","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["osteomesopycnosis"," osteomesopyknosis"]}