{"Name":"Talo-patello-scaphoid osteolysis","DiseaseID__c":"GARD:0010061","id":10061,"encodedName":"talo-patello-scaphoid-osteolysis","IsDeleted":false,"Disease_Name_Full__c":"Talo-patello-scaphoid osteolysis","Xref_IDs__c":"C1864784; C536894; MEDGEN:400611; MONDO:0012330; OMIM:609655; ORPHA:50809","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012330","Disease_Description__c":"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E; see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested.","GARD_Name__c":"Talo-patello-scaphoid osteolysis","GARD_Synonym__c":"singh-williams-mcalister syndrome","Curated_Disease_Description_Source__c":"MONDO:0012330","Curated_Disease_Description__c":"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E; see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:50809","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012330","ORPHANET_ID__c":"ORPHA:50809","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteólisis de talón-rótula-escafoides","Spanish_Description_Source__c":"ORPHA:50809","Spanish_Description__c":"El síndrome de osteólisis del talón, rótula y escafoides es una forma de osteólisis primaria extremadamente rara (consulte este término), descrito en dos hermanas hasta la fecha. Se caracteriza por osteólisis bilateral del talón, del escafoides y de la rótula (acompañado de inflamación periarticular y dolor) y los cuartos metacarpianos son cortos (braquidactilia tipo E; consulte este término), en ausencia de enfermedad renal. Se ha sugerido una herencia autosómica recesiva.","Spanish_Disease_Name__c":"osteólisis de talón-rótula-escafoides","Spanish_GARD_Synonym__c":"síndrome de singh-williams-mcalister","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":"Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis (see this term), described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E; see this term), in the absence of renal disease. Autosomal recessive inheritance has been suggested.","Curated_Disease_Description_Source__c":"MONDO:0012330","GARD_Synonym__c":"singh-williams-mcalister syndrome","Name":"Talo-patello-scaphoid osteolysis","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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:50809"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/50809","Source__c":"C1864784; MONDO:0012330","Xref__c":"ORPHA:50809"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864784","Source__c":"C1864784","Xref__c":"C1864784"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536894","Source__c":"MONDO:0012330","Xref__c":"C536894"},{"URL__c":"https://www.omim.org/entry/609655","Source__c":"C1864784; MONDO:0012330; ORPHA:50809","Xref__c":"OMIM:609655"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=400611","Source__c":"C1864784","Xref__c":"MEDGEN:400611"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012330","Source__c":"GARD:0010061","Xref__c":"MONDO:0012330"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:50809","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increase in size of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003037","HPO_Synonym__c":"Enlarged joints","HPO_Name__c":"Enlarged joints","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50809","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100769","HPO_Name__c":"Synovitis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50809","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006202","HPO_Name__c":"Osteolysis of scaphoids","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50809","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Short fourth metacarpal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010044","HPO_Synonym__c":"Hypoplastic fourth metacarpal; Short 4th metacarpals; Short fourth metacarpals; Shortened 4th long bone of hand","HPO_Name__c":"Short 4th metacarpal","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50809","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteolysis affecting the talus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008095","HPO_Synonym__c":"Osteolysis of tali","HPO_Name__c":"Osteolysis of talus","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:50809","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006378","HPO_Name__c":"Osteolysis of patellae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["singh-williams-mcalister syndrome"]}