{"Name":"Distal arthrogryposis type 10","DiseaseID__c":"GARD:0017212","id":17212,"encodedName":"distal-arthrogryposis-type-10","IsDeleted":false,"Disease_Name_Full__c":"Distal arthrogryposis type 10","Xref_IDs__c":"1208482007; 275336002; C1861238; C566069; DOID:0111593; MEDGEN:349990; MONDO:0016675; OMIM:187370; ORPHA:251515","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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:251515","Disease_Description__c":"A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.","GARD_Name__c":"Distal arthrogryposis type 10","GARD_Synonym__c":"congenital plantar contractures; congenital plantar flexion contracture; da10; da10 - distal arthrogryposis type 10; plantar flexion contracture; short achilles tendon; short tendo calcaneus; tendo calcaneus, short","Curated_Disease_Description_Source__c":"ORPHA:251515","Curated_Disease_Description__c":"A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.","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:251515","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016675","ORPHANET_ID__c":"ORPHA:251515","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Artrogriposis distal tipo 10","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"artrogriposis distal tipo 10","Spanish_GARD_Synonym__c":"contractura en flexión plantar; da10; tendón calcáneo corto","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":"A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.","Curated_Disease_Description_Source__c":"ORPHA:251515","GARD_Synonym__c":"congenital plantar contractures; congenital plantar flexion contracture; da10; da10 - distal arthrogryposis type 10; plantar flexion contracture; short achilles tendon; short tendo calcaneus; tendo calcaneus, short","Name":"Distal arthrogryposis type 10","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Arthrogryposis Multiplex Congenita Support Inc.","Website__c":"https://www.amcsupport.org/"}],"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":"Neonatal","Provided_By__c":"ORPHA:251515"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:251515"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111593","Source__c":"MONDO:0016675","Xref__c":"DOID:0111593"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=275336002","Source__c":"MONDO:0016675","Xref__c":"275336002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861238","Source__c":"C1861238","Xref__c":"C1861238"},{"URL__c":"https://www.omim.org/entry/187370","Source__c":"C1861238; MONDO:0016675","Xref__c":"OMIM:187370"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=349990","Source__c":"C1861238","Xref__c":"MEDGEN:349990"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566069","Source__c":"MONDO:0016675","Xref__c":"C566069"},{"URL__c":"https://www.orpha.net/en/disease/detail/251515","Source__c":"C1861238; MONDO:0016675; ORPHA:251515","Xref__c":"ORPHA:251515"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1208482007","Source__c":"C1861238","Xref__c":"1208482007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016675","Source__c":"GARD:0017212","Xref__c":"MONDO:0016675"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:187370","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030051","HPO_Synonym__c":"Tiptoe gait; Toe walking; Walking on tiptoes","HPO_Name__c":"Tip-toe gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:187370","Feature__r":{"HPO_Description__c":"An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002987","HPO_Synonym__c":"Elbow flexion contractures; Elbow flexion deformity; Fixed flexion at the elbow joint","HPO_Name__c":"Elbow flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:187370","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003089","HPO_Synonym__c":"Hamstring contractures","HPO_Name__c":"Hamstring contractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:187370","Feature__r":{"HPO_Description__c":"A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001239","HPO_Synonym__c":"Wrist contracture; Wrist flexion deformity","HPO_Name__c":"Wrist flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:187370","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of contracture in which the plantar flexion muscles are contracted.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008112","HPO_Synonym__c":"Plantar flexion contractures","HPO_Name__c":"Plantar flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:187370","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:187370","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005684","HPO_Name__c":"Distal arthrogryposis","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":["congenital plantar contractures"," congenital plantar flexion contracture"," da10"," da10 - distal arthrogryposis type 10"," plantar flexion contracture"," short achilles tendon"," short tendo calcaneus"," tendo calcaneus, short"]}