{"Name":"Phalangeal microgeodic syndrome","DiseaseID__c":"GARD:0021524","id":21524,"encodedName":"phalangeal-microgeodic-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Phalangeal microgeodic syndrome","Xref_IDs__c":"770761005; C4749465; MEDGEN:1658987; MONDO:0018128; ORPHA:352636","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":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018128","Disease_Description__c":"A rare primary osteolysis disorder characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.","GARD_Name__c":"Phalangeal microgeodic syndrome","GARD_Synonym__c":"phalangeal osteolysis","Curated_Disease_Description_Source__c":"MONDO:0018128","Curated_Disease_Description__c":"A rare primary osteolysis disorder characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:352636","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018128","ORPHANET_ID__c":"ORPHA:352636","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome falángico microgeódico","Spanish_Description_Source__c":"ORPHA:352636","Spanish_Description__c":"Es una osteólisis primaria poco frecuente caracterizada por múltiples zonas osteolíticas pequeñas y esclerosis de las falanges de una o ambas manos, así como edema y enrojecimiento de las falanges. La afección es benigna, autolimitada y puede estar relacionada con la exposición al frío.","Spanish_Disease_Name__c":"síndrome falángico microgeódico","Spanish_GARD_Synonym__c":"acroosteólisis falángica","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":"A rare primary osteolysis disorder characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure.","Curated_Disease_Description_Source__c":"MONDO:0018128","GARD_Synonym__c":"phalangeal osteolysis","Name":"Phalangeal microgeodic syndrome","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:352636"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1658987","Source__c":"C4749465","Xref__c":"MEDGEN:1658987"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749465","Source__c":"C4749465","Xref__c":"C4749465"},{"URL__c":"https://www.orpha.net/en/disease/detail/352636","Source__c":"C4749465; MONDO:0018128; ORPHA:352636","Xref__c":"ORPHA:352636"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018128","Source__c":"GARD:0021524","Xref__c":"MONDO:0018128"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770761005","Source__c":"C4749465","Xref__c":"770761005"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"]},"synonyms":["phalangeal osteolysis"]}