{"Name":"Ehlers-Danlos syndrome, familial joint laxity type","DiseaseID__c":"GARD:0003054","id":3054,"encodedName":"ehlers-danlos-syndrome-familial-joint-laxity-type","IsDeleted":false,"Disease_Name_Full__c":"Ehlers-Danlos syndrome, familial joint laxity type","Xref_IDs__c":"71322004; C0268349; C535884; MEDGEN:120629; MONDO:0007842; OMIM:147900; ORPHA:2295","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0007842","Disease_Description__c":"A rare genetic disease characterized by generalized joint laxity leading to recurrent dislocation of major joints, such as the hip (often with congenital hip dislocation), shoulder, elbow, or patella. Patients often experience muscle and joint pain (sometimes with effusion) and may develop degenerative joint changes at a relatively early age. Skin abnormalities are absent.","GARD_Name__c":"Ehlers-Danlos syndrome, familial joint laxity type","GARD_Synonym__c":"articular hypermobility syndrome; eds xi; eds11; ehlers-danlos syndrome type 11, formerly; ehlers-danlos syndrome type xi; ehlers-danlos syndrome, type 11; ehlers-danlos syndrome, type xi; familial articular hypermobility syndrome; familial generalized articular hypermobility; familial joint instability syndrome; familial joint laxity; joint instability syndrome; joint laxity, familial","Curated_Disease_Description_Source__c":"MONDO:0007842","Curated_Disease_Description__c":"A rare genetic disease characterized by generalized joint laxity leading to recurrent dislocation of major joints, such as the hip (often with congenital hip dislocation), shoulder, elbow, or patella. Patients often experience muscle and joint pain (sometimes with effusion) and may develop degenerative joint changes at a relatively early age. Skin abnormalities are absent.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:2295","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007842","ORPHANET_ID__c":"ORPHA:2295","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hipermovilidad articular familiar","Spanish_Description_Source__c":"ORPHA:2295","Spanish_Description__c":"Es una enfermedad genética poco frecuente caracterizada por laxitud articular generalizada, que resulta en luxaciones recurrentes de las principales articulaciones, como la cadera (a menudo con luxación congénita de cadera), el hombro, el codo o la rótula. Con frecuencia, los pacientes experimentan dolores musculares y articulares (en ocasiones con derrame), pudiendo desarrollar cambios articulares degenerativos a una edad relativamente temprana. No asocia anomalías cutáneas.","Spanish_Disease_Name__c":"síndrome de hipermovilidad articular familiar","Spanish_GARD_Synonym__c":"laxitud articular familiar; síndrome de inestabilidad articular; síndrome de inestabilidad articular familiar","Category_Linearization__c":"ORPHA:98023","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 disease characterized by generalized joint laxity leading to recurrent dislocation of major joints, such as the hip (often with congenital hip dislocation), shoulder, elbow, or patella. Patients often experience muscle and joint pain (sometimes with effusion) and may develop degenerative joint changes at a relatively early age. Skin abnormalities are absent.","Curated_Disease_Description_Source__c":"MONDO:0007842","GARD_Synonym__c":"articular hypermobility syndrome; eds xi; eds11; ehlers-danlos syndrome type 11, formerly; ehlers-danlos syndrome type xi; ehlers-danlos syndrome, type 11; ehlers-danlos syndrome, type xi; familial articular hypermobility syndrome; familial generalized articular hypermobility; familial joint instability syndrome; familial joint laxity; joint instability syndrome; joint laxity, familial","Name":"Ehlers-Danlos syndrome, familial joint laxity type","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Ehlers-Danlos Society","Website__c":"https://www.ehlers-danlos.com/"},{"Account_Name__c":"Ehlers-Danlos Support UK","Website__c":"https://www.ehlers-danlos.org/"},{"Account_Name__c":"Coalition for Heritable Disorders of Connective Tissue","Website__c":"https://www.connectivetissuecoalition.org/"},{"Account_Name__c":"EDS Awareness","Website__c":"https://www.chronicpainpartners.com/"}],"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":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Dermatology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Skin diseases, or integumentary system diseases, affect the skin, hair, nails, sweat glands, or oil glands.","curated_tag_name":"Skin 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":"Infancy","Provided_By__c":"ORPHA:2295"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2295"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:2295"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120629","Source__c":"C0268349","Xref__c":"MEDGEN:120629"},{"URL__c":"https://www.omim.org/entry/147900","Source__c":"C0268349; MONDO:0007842; ORPHA:2295","Xref__c":"OMIM:147900"},{"URL__c":"https://www.orpha.net/en/disease/detail/2295","Source__c":"C0268349; MONDO:0007842; ORPHA:2295","Xref__c":"ORPHA:2295"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=71322004","Source__c":"C0268349; MONDO:0007842","Xref__c":"71322004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535884","Source__c":"MONDO:0007842","Xref__c":"C535884"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268349","Source__c":"C0268349","Xref__c":"C0268349"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007842","Source__c":"GARD:0003054","Xref__c":"MONDO:0007842"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2295","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001374","HPO_Synonym__c":"Congenital dislocation of the hip; Congenital dislocation of the hips; Congenital hip anomaly; Congenital hip dislocations; Dislocated hip since birth","HPO_Name__c":"Congenital hip dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2295","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002999","HPO_Synonym__c":"Dislocated kneecap; Dislocated patellae; Dislocation of patella","HPO_Name__c":"Patellar dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2295","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001382","HPO_Synonym__c":"Double-Jointed; Extensible joints; Flexible joints; Hyperextensible joints; Increased joint mobility; Increased mobility of joints; Joint hyperextensibility; Joint hyperflexibility; Joint hyperlaxity; Joint laxity; Joints move beyond expected range of motion; Lax joints; Loose-jointedness","HPO_Name__c":"Joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2295","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the knee joint or surrounding structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002815","HPO_Synonym__c":"Abnormality of the knee","HPO_Name__c":"Abnormality of the knee","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2295","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any anomaly of the structure of the femur.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002823","HPO_Synonym__c":"Abnormality of femur morphology; Abnormality of the femora; Abnormality of the thighbone","HPO_Name__c":"Abnormal femur morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2295","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the joint that connects the upper and the lower arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009811","HPO_Synonym__c":"Abnormality of the elbow; Abnormality of the elbows","HPO_Name__c":"Abnormality of the elbow","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2295","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003834","HPO_Synonym__c":"Shoulder dislocation","HPO_Name__c":"Shoulder dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2295","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of the contents of the abdominal cavity through the inguinal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000023","HPO_Name__c":"Inguinal hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Rheumatology","Dermatology","Orthopedics","Pediatrics"],"Account":["Dermatology"]},"synonyms":["articular hypermobility syndrome"," eds xi"," eds11"," ehlers-danlos syndrome type 11, formerly"," ehlers-danlos syndrome type xi"," ehlers-danlos syndrome, type 11"," ehlers-danlos syndrome, type xi"," familial articular hypermobility syndrome"," familial generalized articular hypermobility"," familial joint instability syndrome"," familial joint laxity"," joint instability syndrome"," joint laxity, familial"]}