{"Name":"Distal symphalangism","DiseaseID__c":"GARD:0005074","id":5074,"encodedName":"distal-symphalangism","IsDeleted":false,"Disease_Name_Full__c":"Distal symphalangism","Xref_IDs__c":"C1861401; C566099; HP:0100263; MEDGEN:350018; MONDO:0008509; OMIM:185700; ORPHA:3248","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":2,"Description_Source__c":"MONDO:0008509","Disease_Description__c":"Distal symphalangism is a very rare bone disorder characterized by ankylosis of the distal interphalangeal joints of the hands and/or feet.","GARD_Name__c":"Distal symphalangism","GARD_Synonym__c":"distal symphalangism (disease); symphalangism, distal","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Distal symphalangism is a rare bone disorder that affects the joints in the hands and/or feet. The condition causes the joints at the ends of the fingers and toes to become stiff and immovable. This means that the fingers and toes cannot bend or move as they should.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:3248","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008509","ORPHANET_ID__c":"ORPHA:3248","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sinfalangismo distal aislado","Spanish_Description_Source__c":"ORPHA:3248","Spanish_Description__c":"Es un trastorno óseo muy poco frecuente caracterizado por anquilosis de las articulaciones interfalángicas distales de las manos y/o los pies.","Spanish_Disease_Name__c":"sinfalangismo distal aislado","Spanish_GARD_Synonym__c":null,"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":"Distal symphalangism is a rare bone disorder that affects the joints in the hands and/or feet. The condition causes the joints at the ends of the fingers and toes to become stiff and immovable. This means that the fingers and toes cannot bend or move as they should.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"distal symphalangism (disease); symphalangism, distal","Name":"Distal symphalangism","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":"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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:3248"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:3248"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861401","Source__c":"C1861401","Xref__c":"C1861401"},{"URL__c":"https://www.orpha.net/en/disease/detail/3248","Source__c":"C1861401; MONDO:0008509","Xref__c":"ORPHA:3248"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350018","Source__c":"C1861401","Xref__c":"MEDGEN:350018"},{"URL__c":"https://www.omim.org/entry/185700","Source__c":"C1861401; MONDO:0008509; ORPHA:3248","Xref__c":"OMIM:185700"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566099","Source__c":"MONDO:0008509","Xref__c":"C566099"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0100263","Source__c":"C1861401","Xref__c":"HP:0100263"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008509","Source__c":"GARD:0005074","Xref__c":"MONDO:0008509"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:3248","HPO_Frequency__c":"Very frequent (80-99%)","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:3248","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005048","HPO_Synonym__c":"Fusion of wrist bones","HPO_Name__c":"Synostosis of carpal bones","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:3248","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100490","HPO_Synonym__c":"Camptodactyly of hands; Camptodactyly of proximal interphalangeal joint; Contractures of the proximal interphalangeal joints of the fingers; Flexion contractures of proximal interphalangeal joints; Permanent flexion of the finger; Proximal interphalangeal finger joint contractures","HPO_Name__c":"Camptodactyly of finger","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["distal symphalangism (disease)"," symphalangism, distal"]}