{"Name":"Finger clinodactyly","DiseaseID__c":"GARD:0021202","id":21202,"encodedName":"finger-clinodactyly","IsDeleted":false,"Disease_Name_Full__c":"Finger clinodactyly","Xref_IDs__c":"763691008; C0265610; HP:0040019; MEDGEN:120550; MONDO:0017461; ORPHA:295014","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0017461","Disease_Description__c":"Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.","GARD_Name__c":"Finger clinodactyly","GARD_Synonym__c":"congenital clinodactyly of finger; congenital crooked finger; curvature of finger; familial isolated clinodactyly of fingers","Curated_Disease_Description_Source__c":"MONDO:0017461","Curated_Disease_Description__c":"Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:295014","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0017461","ORPHANET_ID__c":"ORPHA:295014","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Clinodactilia familiar aislada de los dedos de la mano","Spanish_Description_Source__c":"ORPHA:295014","Spanish_Description__c":"La clinodactilia aislada familiar de los dedos de las manos es un trastorno congénito de malformación de las extremidades no-sindrómico, genético y poco frecuente, que se caracteriza por la angulación de un dedo en el plano radiocubital (coronal), alejándose del eje de flexión-extensión articular, en varios miembros de una sola familia, sin otras manifestaciones asociadas. La desviación es habitualmente bilateral y, por lo general, afecta al quinto dedo. Los dedos afectados presentan falanges de forma trapezoidal o triangular (delta) en las imágenes médicas.","Spanish_Disease_Name__c":"clinodactilia familiar aislada de los dedos de la mano","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":"Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging.","Curated_Disease_Description_Source__c":"MONDO:0017461","GARD_Synonym__c":"congenital clinodactyly of finger; congenital crooked finger; curvature of finger; familial isolated clinodactyly of fingers","Name":"Finger clinodactyly","estimateUsa":""}],"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763691008","Source__c":"MONDO:0017461","Xref__c":"763691008"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0265610","Source__c":"C0265610","Xref__c":"C0265610"},{"URL__c":"https://www.orpha.net/en/disease/detail/295014","Source__c":"C0265610; MONDO:0017461","Xref__c":"ORPHA:295014"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120550","Source__c":"C0265610","Xref__c":"MEDGEN:120550"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0040019","Source__c":"C0265610","Xref__c":"HP:0040019"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1003620005","Source__c":"C0265610","Xref__c":"1003620005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017461","Source__c":"GARD:0021202","Xref__c":"MONDO:0017461"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["congenital clinodactyly of finger"," congenital crooked finger"," curvature of finger"," familial isolated clinodactyly of fingers"]}