{"Name":"Diffuse idiopathic skeletal hyperostosis","DiseaseID__c":"GARD:0000842","id":842,"encodedName":"diffuse-idiopathic-skeletal-hyperostosis","IsDeleted":false,"Disease_Name_Full__c":"Diffuse idiopathic skeletal hyperostosis","Xref_IDs__c":"31487001; C0020498; C84671; D004057; DOID:6652; M48.1; MEDGEN:5695; MONDO:0007127; OMIM:106400; ORPHA:2206","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007127","Disease_Description__c":"A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.","GARD_Name__c":"Diffuse idiopathic skeletal hyperostosis","GARD_Synonym__c":"ankylosing hyperostosis; ankylosing vertebral hyperostosis; ankylosing vertebral hyperostosis with tylosis; dish; dish - diffuse idiopathic skeletal hyperostosis; disseminated idiopathic skeletal hyperostosis; forestier's disease","Curated_Disease_Description_Source__c":"MONDO:0007127","Curated_Disease_Description__c":"A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:2206","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007127","ORPHANET_ID__c":"ORPHA:2206","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperostosis vertebral anquilosante con tilosis","Spanish_Description_Source__c":"ORPHA:2206","Spanish_Description__c":"Es una disostosis poco frecuente con una afectación vertebral predominante caracterizada por osificación del ligamento paraespinal (más acentuada en la región torácica inferior), osteofitosis, esclerosis marginal de la articulación sacroilíaca e hiperqueratosis punteada en las plantas de los pies y las palmas de las manos. Los pacientes pueden estar asintomáticos o experimentar dolor de espalda de leve a moderado. No ha habido más casos descritos en la literatura desde 1969.","Spanish_Disease_Name__c":"hiperostosis vertebral anquilosante con tilosis","Spanish_GARD_Synonym__c":"enfermedad de forestier","Category_Linearization__c":"ORPHA:93890","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 rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.","Curated_Disease_Description_Source__c":"MONDO:0007127","GARD_Synonym__c":"ankylosing hyperostosis; ankylosing vertebral hyperostosis; ankylosing vertebral hyperostosis with tylosis; dish; dish - diffuse idiopathic skeletal hyperostosis; disseminated idiopathic skeletal hyperostosis; forestier's disease","Name":"Diffuse idiopathic skeletal hyperostosis","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Arthritis Society","Website__c":"https://arthritis.ca/"},{"Account_Name__c":"Arthritis Foundation","Website__c":"https://www.arthritis.org"}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:2206"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C004057","Source__c":"C0020498; MONDO:0007127","Xref__c":"D004057"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0020498","Source__c":"C0020498","Xref__c":"C0020498"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A6652","Source__c":"MONDO:0007127","Xref__c":"DOID:6652"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=5695","Source__c":"C0020498","Xref__c":"MEDGEN:5695"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=31487001","Source__c":"C0020498; MONDO:0007127","Xref__c":"31487001"},{"URL__c":"https://www.orpha.net/en/disease/detail/2206","Source__c":"C0020498; MONDO:0007127; ORPHA:2206","Xref__c":"ORPHA:2206"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84671","Source__c":"C0020498; MONDO:0007127","Xref__c":"C84671"},{"URL__c":"https://www.omim.org/entry/106400","Source__c":"C0020498; ORPHA:2206","Xref__c":"OMIM:106400"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/M48.1","Source__c":"MONDO:0007127","Xref__c":"M48.1"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007127","Source__c":"GARD:0000842","Xref__c":"MONDO:0007127"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2206","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040163","HPO_Synonym__c":"Abnormal shape of pelvis bone","HPO_Name__c":"Abnormal pelvis bone morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2206","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any abnormality of the vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000925","HPO_Synonym__c":"Abnormal spine; Abnormal vertebral column; Abnormality of the spine; Abnormality of the vertebral column","HPO_Name__c":"Abnormality of the vertebral column","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2206","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2206","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002758","HPO_Synonym__c":"Degenerative joint disease","HPO_Name__c":"Osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2206","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal thickening of the skin of the palms of the hands and the soles of the feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000982","HPO_Synonym__c":"Keratoderma; Palmar and plantar keratoderma; Thickening of palms and soles","HPO_Name__c":"Palmoplantar keratoderma","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"]},"synonyms":["ankylosing hyperostosis"," ankylosing vertebral hyperostosis"," ankylosing vertebral hyperostosis with tylosis"," dish"," dish - diffuse idiopathic skeletal hyperostosis"," disseminated idiopathic skeletal hyperostosis"," forestier's disease"]}