{"Name":"Camptodactyly of fingers","DiseaseID__c":"GARD:0009448","id":9448,"encodedName":"camptodactyly-of-fingers","IsDeleted":false,"Disease_Name_Full__c":"Camptodactyly of fingers","Xref_IDs__c":"29271008; C2751430; C536852; C567780; MEDGEN:416550; MONDO:0007250; OMIM:114200; ORPHA:295016","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":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0007250","Disease_Description__c":"Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.","GARD_Name__c":"Camptodactyly of fingers","GARD_Synonym__c":"camptodactyly 1; camptodactyly and knuckle pads","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Camptodactyly of fingers is a rare, genetic condition that is present since birth. It causes the little finger on one or both hands to remain permanently bent at the middle joint. Other fingers in addition to the little finger can also be affected. The bending doesn't cause pain and is always there, even when the finger is relaxed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:295016","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007250","ORPHANET_ID__c":"ORPHA:295016","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Camptodactilia de los dedos de la mano","Spanish_Description_Source__c":"ORPHA:295016","Spanish_Description__c":"La camptodactilia de los dedos de las manos es un trastorno congénito de malformación de las extremidades no-sindrómico, genético y poco frecuente, caracterizado por una contractura de flexión permanente, indolora, no-traumática, no-neurogénica, con frecuencia bilateral, de la articulación interfalángica proximal de un dedo postaxial, provocando la inclinación del dedo afectado. El quinto dedo siempre está afectado pero también pueden verse afectados otros dedos.","Spanish_Disease_Name__c":"camptodactilia 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":"Camptodactyly of fingers is a rare, genetic condition that is present since birth. It causes the little finger on one or both hands to remain permanently bent at the middle joint. Other fingers in addition to the little finger can also be affected. The bending doesn't cause pain and is always there, even when the finger is relaxed.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"camptodactyly 1; camptodactyly and knuckle pads","Name":"Camptodactyly of fingers","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://uts.nlm.nih.gov/uts/umls/concept/C2751430","Source__c":"C2751430","Xref__c":"C2751430"},{"URL__c":"https://www.orpha.net/en/disease/detail/295016","Source__c":"C2751430; MONDO:0007250","Xref__c":"ORPHA:295016"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=29271008","Source__c":"MONDO:0007250","Xref__c":"29271008"},{"URL__c":"https://www.omim.org/entry/114200","Source__c":"C2751430; MONDO:0007250; ORPHA:295016","Xref__c":"OMIM:114200"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536852","Source__c":"MONDO:0007250","Xref__c":"C536852"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=416550","Source__c":"C2751430","Xref__c":"MEDGEN:416550"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567780","Source__c":"MONDO:0007250","Xref__c":"C567780"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007250","Source__c":"GARD:0009448","Xref__c":"MONDO:0007250"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:114200","Feature__r":{"HPO_Description__c":"A partial dislocation of a joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032153","HPO_Name__c":"Joint subluxation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:114200","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"}},{"Provided_By__c":"OMIM:114200","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004976","HPO_Synonym__c":"Dislocations of the knees; Knee dislocations","HPO_Name__c":"Knee dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:114200","Feature__r":{"HPO_Description__c":"Increased concentration of taurine in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003166","HPO_Synonym__c":"Increased urinary taurine","HPO_Name__c":"Increased urinary taurine","HPO_Feature_Type__c":"Lab"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics"],"Account":["Congenital limb malformation"]},"synonyms":["camptodactyly 1"," camptodactyly and knuckle pads"]}