{"Name":"Arthrogryposis multiplex congenita","DiseaseID__c":"GARD:0000777","id":777,"encodedName":"arthrogryposis-multiplex-congenita","IsDeleted":false,"Disease_Name_Full__c":"Arthrogryposis multiplex congenita","Xref_IDs__c":"205402004; C5779613; DOID:0080954; HP:0002804; MEDGEN:1830310; MONDO:0015168; OMIMPS:617468; ORPHA:1037; Q74.3","USA_Estimate__c":"50,000","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":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0015168","Disease_Description__c":"A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.","GARD_Name__c":"Arthrogryposis multiplex congenita","GARD_Synonym__c":"amc; amc - arthrogryposis multiplex congenita; arthrogryposis multiplex; arthrogryposis, congenital; arthromyodysplasia congenita; congenital arthromyodysplasia; congenital multiple arthrogryposis; fibrous ankylosis of multiple joints; guerin-stern syndrome; guérin-stern syndrome; multiple congenital arthrogryposis; multiple congenital contractures; myodysplasia; myodystrophia fetalis deformans; otto syndrome; rocher-sheldon syndrome; rossi syndrome","Curated_Disease_Description_Source__c":"GARD:0000777","Curated_Disease_Description__c":"Arthrogryposis multiplex congenita (AMC) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. A contracture occurs when a joint becomes permanently fixed in a bent or straightened position, which can impact the function and range of motion of the joint and may lead to muscle atrophy. AMC is not a specific diagnosis, but rather a physical symptom that can be associated with many different medical conditions. It is suspected that AMC is related to decreased fetal movement during development which can have a variety of different causes, including environmental factors (i.e. maternal illness, limited space), single gene changes (autosomal dominant, autosomal recessive, X-linked), chromosomal abnormalities and various syndromes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:1037","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0015168","ORPHANET_ID__c":"ORPHA:1037","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Artrogriposis múltiple congénita","Spanish_Description_Source__c":"ORPHA:1037","Spanish_Description__c":"Es un grupo de trastornos caracterizados por contracturas congénitas de las extremidades. Se manifiesta al nacimiento como una limitación del movimiento de las articulaciones de varias extremidades que, generalmente, no es progresiva y puede incluir debilidad muscular y fibrosis. La AMC siempre se asocia con una disminución del movimiento fetal intrauterino que deriva, de manera secundaria, en contracturas.","Spanish_Disease_Name__c":"artrogriposis múltiple congénita","Spanish_GARD_Synonym__c":"amc; artrogriposis congénita múltiple","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":"Arthrogryposis multiplex congenita (AMC) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. A contracture occurs when a joint becomes permanently fixed in a bent or straightened position, which can impact the function and range of motion of the joint and may lead to muscle atrophy. AMC is not a specific diagnosis, but rather a physical symptom that can be associated with many different medical conditions. It is suspected that AMC is related to decreased fetal movement during development which can have a variety of different causes, including environmental factors (i.e. maternal illness, limited space), single gene changes (autosomal dominant, autosomal recessive, X-linked), chromosomal abnormalities and various syndromes.","Curated_Disease_Description_Source__c":"GARD:0000777","GARD_Synonym__c":"amc; amc - arthrogryposis multiplex congenita; arthrogryposis multiplex; arthrogryposis, congenital; arthromyodysplasia congenita; congenital arthromyodysplasia; congenital multiple arthrogryposis; fibrous ankylosis of multiple joints; guerin-stern syndrome; guérin-stern syndrome; multiple congenital arthrogryposis; multiple congenital contractures; myodysplasia; myodystrophia fetalis deformans; otto syndrome; rocher-sheldon syndrome; rossi syndrome","Name":"Arthrogryposis multiplex congenita","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Asociación AMC-Artrogriposis Múltiple Congénita","Website__c":"https://artrogriposis.org/"},{"Account_Name__c":"The Arthrogryposis Group","Website__c":"http://www.arthrogryposis.co.uk/"},{"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:1037"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5779613","Source__c":"C5779613","Xref__c":"C5779613"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS617468","Source__c":"MONDO:0015168","Xref__c":"OMIMPS:617468"},{"URL__c":"https://www.orpha.net/en/disease/detail/1037","Source__c":"C5779613; MONDO:0015168; ORPHA:1037","Xref__c":"ORPHA:1037"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1830310","Source__c":"C5779613","Xref__c":"MEDGEN:1830310"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080954","Source__c":"MONDO:0015168","Xref__c":"DOID:0080954"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/Q74.3","Source__c":"MONDO:0015168","Xref__c":"Q74.3"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=205402004","Source__c":"C5779613","Xref__c":"205402004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C001176","Source__c":"C5779613","Xref__c":"D001176"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015168","Source__c":"GARD:0000777","Xref__c":"MONDO:0015168"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0002804","Source__c":"C5779613","Xref__c":"HP:0002804"}],"Inheritance__c":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["amc"," amc - arthrogryposis multiplex congenita"," arthrogryposis multiplex"," arthrogryposis, congenital"," arthromyodysplasia congenita"," congenital arthromyodysplasia"," congenital multiple arthrogryposis"," fibrous ankylosis of multiple joints"," guerin-stern syndrome"," guérin-stern syndrome"," multiple congenital arthrogryposis"," multiple congenital contractures"," myodysplasia"," myodystrophia fetalis deformans"," otto syndrome"," rocher-sheldon syndrome"," rossi syndrome"],"spanishId":12902,"spanishName":"artrogriposis-multiple-congenita"}