{"Name":"Ehlers-Danlos syndrome, classic type","DiseaseID__c":"GARD:0002088","id":2088,"encodedName":"ehlers-danlos-syndrome-classic-type","IsDeleted":false,"Disease_Name_Full__c":"Ehlers-Danlos syndrome, classic type","Xref_IDs__c":"715318006; C4225429; MEDGEN:909864; MONDO:0007522; NBK1244; ORPHA:287","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":8,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0007522","Disease_Description__c":"A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility.","GARD_Name__c":"Ehlers-Danlos syndrome, classic type","GARD_Synonym__c":"ceds; classical eds; classical ehlers-danlos syndrome; eds, classic type; ehlers-danlos syndrome classic type; ehlers-danlos syndrome classical type","Curated_Disease_Description_Source__c":"GARD:0002088","Curated_Disease_Description__c":"Classical Ehlers-Danlos syndrome (EDS) is a genetic connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include skin hyperextensibility, abnormal wound healing, and joint hypermobility. More than 90% of people with classical EDS have genetic changes in COL5A1 or COL5A2, two genes which encode type V collagen. In rare cases, genetic changes in the gene encoding type I collagen, COL1A1 gene, may be found. The condition is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"from Birth to Childhood","SourceID__c":"ORPHA:287","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007522","ORPHANET_ID__c":"ORPHA:287","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ehlers-danlos clásico","Spanish_Description_Source__c":"ORPHA:287","Spanish_Description__c":"Es una forma hereditaria y poco frecuente del síndrome de Ehlers-Danlos que afecta al tejido conectivo caracterizada por hiperextensibilidad de la piel, cicatrices atróficas ensanchadas e hipermovilidad articular generalizada.","Spanish_Disease_Name__c":"síndrome de ehlers-danlos clásico","Spanish_GARD_Synonym__c":"sed clásico","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":"Classical Ehlers-Danlos syndrome (EDS) is a genetic connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include skin hyperextensibility, abnormal wound healing, and joint hypermobility. More than 90% of people with classical EDS have genetic changes in COL5A1 or COL5A2, two genes which encode type V collagen. In rare cases, genetic changes in the gene encoding type I collagen, COL1A1 gene, may be found. The condition is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0002088","GARD_Synonym__c":"ceds; classical eds; classical ehlers-danlos syndrome; eds, classic type; ehlers-danlos syndrome classic type; ehlers-danlos syndrome classical type","Name":"Ehlers-Danlos syndrome, classic type","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Bobby Jones Chiari & Syringomyelia Foundation","Website__c":"https://bobbyjonescsf.org/"},{"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":"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":"The Zebra Network","Website__c":"https://thezebranetwork.org/"},{"Account_Name__c":"EDS Awareness","Website__c":"https://www.chronicpainpartners.com/"},{"Account_Name__c":"Hypermobility Syndromes Association","Website__c":"https://www.hypermobility.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":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Rheumatology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"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":"Odontology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:287"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:287"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:287"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0268336"},{"Type__c":"GTR","Curie__c":"MEDGEN:C4225429"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0002088","Source__c":"RareSource"},{"URL__c":"https://ui.transltr.io/demo/disease/MONDO:0007522","Source__c":"Biomedical Data Translator","Xref__c":"7522"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1244","Source__c":"Gene Review","Xref__c":"NBK1244"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715318006","Source__c":"C4225429; MONDO:0007522","Xref__c":"715318006"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225429","Source__c":"C4225429","Xref__c":"C4225429"},{"URL__c":"https://www.orpha.net/en/disease/detail/287","Source__c":"C4225429; MONDO:0007522; ORPHA:287","Xref__c":"ORPHA:287"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=909864","Source__c":"C4225429","Xref__c":"MEDGEN:909864"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007522","Source__c":"GARD:0002088","Xref__c":"MONDO:0007522"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL5A2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col5a2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"COL5A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col5a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"COL1A1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col1a1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:287","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:287","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Skin that splits easily with minimal injury.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001030","HPO_Synonym__c":"Fragile skin; Skin fragility","HPO_Name__c":"Fragile skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002758","HPO_Synonym__c":"Degenerative joint disease","HPO_Name__c":"Osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000481","HPO_Synonym__c":"Abnormality of the cornea; Corneal abnormalities; Corneal abnormality","HPO_Name__c":"Abnormal cornea morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sensation of unease in the stomach together with an urge to vomit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002018","HPO_Synonym__c":"Nausea","HPO_Name__c":"Nausea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001704","HPO_Name__c":"Tricuspid valve prolapse","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001075","HPO_Synonym__c":"Sunken or indented skin due to damage; Thin, atrophic scars","HPO_Name__c":"Atrophic scars","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012450","HPO_Synonym__c":"Chronic constipation; Infrequent bowel movements","HPO_Name__c":"Chronic constipation","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sudden and involuntary contractions of one or more muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003394","HPO_Synonym__c":"Muscle cramps; 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Dislocated hips; Dislocation of hip; Dislocation of the femoral head; Hip dislocation","HPO_Name__c":"Hip dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal localized widening (dilatation) of the aortic root.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002616","HPO_Synonym__c":"Bulge in wall of root of large artery that carries blood away from heart; Enlarged aortic root; Increased aortic root diameter","HPO_Name__c":"Aortic root aneurysm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; 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It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010749","HPO_Synonym__c":"Saggy upper eyelid skin","HPO_Name__c":"Blepharochalasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010750","HPO_Synonym__c":"Baggy eyes; Droopy eyelid skin; Extra eyelid skin; Eyelid dermatochalasia; Redundant eyelid skin","HPO_Name__c":"Dermatochalasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. In individuals with Joint hypermobility at multiple sites (usually five or more), the term generalized joint hypermobility is preferred.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002761","HPO_Synonym__c":"Generalized joint laxity; Hypermobility of all joints","HPO_Name__c":"Generalized joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A dislocation of the head of the radius from its socket in the elbow joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003083","HPO_Synonym__c":"Congenital radial head dislocation; Dislocated radius; Dislocation of radial head; Dislocation of the radial head; Radial dislocation; Radial head dislocation; Radial head dislocation/subluxation","HPO_Name__c":"Dislocated radial head","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bluish discoloration of the skin of the hands or feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001063","HPO_Synonym__c":"Persistent blue color of hands or feet","HPO_Name__c":"Acrocyanosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Sudden breakage of an artery leading to leakage of blood from the circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025019","HPO_Name__c":"Arterial rupture","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of prolapse of the uterus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000139","HPO_Synonym__c":"Sagging uterus","HPO_Name__c":"Uterine prolapse","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001653","HPO_Synonym__c":"Mitral incompetence; Mitral insufficiency; Mitral valve insufficiency; Mitral valve regurgitation","HPO_Name__c":"Mitral regurgitation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An anomaly of the temporomandibular joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010754","HPO_Synonym__c":"Abnormality of the jaw joint; Anomaly of the temporomandibular joint; Deformity of the jaw joint; Malformation of jaw joint","HPO_Name__c":"Abnormality of the temporomandibular joint","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A purpuric lesion that is larger than 1 cm in diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031364","HPO_Synonym__c":"Ecchymoses","HPO_Name__c":"Ecchymosis","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002036","HPO_Synonym__c":"Hiatal hernia; Stomach hernia","HPO_Name__c":"Hiatus hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the skeleton of foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001760","HPO_Synonym__c":"Abnormal feet structure; Abnormality of the feet; Abnormality of the foot; Foot deformities; Foot deformity","HPO_Name__c":"Abnormal foot morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which the skin can be stretched beyond normal, and then returns to its initial position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000974","HPO_Synonym__c":"Hyperelastic skin; Skin hyperelasticity; Skin hyperextensibility; Stretchable skin","HPO_Name__c":"Hyperextensible skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001027","HPO_Synonym__c":"Soft, doughy skin","HPO_Name__c":"Soft, doughy skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diverticulum (sac or pouch) in the wall of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000015","HPO_Synonym__c":"Bladder diverticula","HPO_Name__c":"Bladder diverticulum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000286","HPO_Synonym__c":"Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds","HPO_Name__c":"Epicanthus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003010","HPO_Synonym__c":"Increased bleeding time; Prolonged bleeding time","HPO_Name__c":"Prolonged bleeding time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001634","HPO_Name__c":"Mitral valve prolapse","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","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"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006243","HPO_Name__c":"Phalangeal dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001386","HPO_Synonym__c":"Joint swelling","HPO_Name__c":"Joint swelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025509","HPO_Name__c":"Piezogenic pedal papules","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal connection between an artery and vein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004947","HPO_Synonym__c":"Arteriovenous fistulas","HPO_Name__c":"Arteriovenous fistula","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001763","HPO_Synonym__c":"Flat feet; Flat foot","HPO_Name__c":"Pes planus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004872","HPO_Synonym__c":"Recurrent abdominal hernia","HPO_Name__c":"Incisional hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001537","HPO_Synonym__c":"Umbilical hernias","HPO_Name__c":"Umbilical hernia","Feature_System__c":"Musculoskeletal System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001065","HPO_Synonym__c":"Purplish striae; Stretch marks; Striae; Striae atrophicae; Striae cutis distensae","HPO_Name__c":"Striae distensae","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000978","HPO_Synonym__c":"Bruisability; Bruise easily; Bruising susceptibility; Easy bruisability; Easy bruising","HPO_Name__c":"Bruising susceptibility","Feature_System__c":"Skin System; Cardiovascular System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Protrusion of the rectal mucous membrane through the anus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002035","HPO_Synonym__c":"Rectum protrudes through anus","HPO_Name__c":"Rectal prolapse","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001278","HPO_Synonym__c":"Decrease in blood pressure upon standing up; Postural hypotension","HPO_Name__c":"Orthostatic hypotension","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any functional abnormality of a cardiac valve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031653","HPO_Name__c":"Abnormal heart valve physiology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001788","HPO_Name__c":"Premature rupture of membranes","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000993","HPO_Synonym__c":"Molluscoid pseudotumor","HPO_Name__c":"Molluscoid pseudotumors","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007495","HPO_Synonym__c":"Precociously senile appearance; Prematurely aged appearance","HPO_Name__c":"Prematurely aged appearance","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Thin (atrophic) and wide scars.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001073","HPO_Synonym__c":"Cigarette paper scarring; Cigarette-paper scars","HPO_Name__c":"Cigarette-paper scars","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003771","HPO_Synonym__c":"Pulp calcifications; Pulp denticles; Pulp stones; Pulpoliths","HPO_Name__c":"Pulp calcification","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","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:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025014","HPO_Name__c":"Subcutaneous spheroids","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced ability to heal cutaneous wounds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001058","HPO_Synonym__c":"Poor wound healing","HPO_Name__c":"Poor wound healing","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a localized dilatation or ballooning of a cerebral artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004944","HPO_Name__c":"Dilatation of the cerebral artery","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Gastroenterology","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Rheumatology","Gastroenterology","Dermatology","Orthopedics","Odontology","Pediatrics"],"Account":["Dermatology"]},"synonyms":["ceds"," classical eds"," classical ehlers-danlos syndrome"," eds, classic type"," ehlers-danlos syndrome classic type"," ehlers-danlos syndrome classical type"],"spanishId":13313,"spanishName":"sindrome-de-ehlers-danlos-tipo-clasico"}