{"Name":"Ehlers-Danlos syndrome, kyphoscoliotic type 1","DiseaseID__c":"GARD:0022216","id":22216,"encodedName":"ehlers-danlos-syndrome-kyphoscoliotic-type-1","IsDeleted":false,"Disease_Name_Full__c":"Ehlers-Danlos syndrome, kyphoscoliotic type 1","Xref_IDs__c":"718211004; C0268342; C125700; C536198; DOID:0080734; MEDGEN:75672; MONDO:0016002; OMIM:225400; ORPHA:1900","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":6,"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":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016002","Disease_Description__c":"A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include skin fragility, atrophic scarring, scleral/ocular fragility/rupture, microcornea, and facial dysmorphology (like low&#8208;set ears, epicanthal folds, down&#8208;slanting palpebral fissures, high palate). Molecular testing is obligatory to confirm the diagnosis.","GARD_Name__c":"Ehlers-Danlos syndrome, kyphoscoliotic type 1","GARD_Synonym__c":"eds 6; eds via; eds, kyphoscoliotic type; eds, oculoscoliotic type; eds6; edskscl1; ehlers-danlos syndrome kyphoscoliotic type; ehlers-danlos syndrome type 6a; ehlers-danlos syndrome, hydroxylysine-deficient; ehlers-danlos syndrome, kyphoscoliotic type; ehlers-danlos syndrome, lysyl hydroxylase deficient; ehlers-danlos syndrome, ocular-scoliotic type; ehlers-danlos syndrome, oculoscoliotic type; ehlers-danlos syndrome, type 6; ehlers-danlos syndrome, type via; hydroxylysine-deficient collagen disease; keds-plod1; kyphoscoliotic eds due to lysyl hydroxylase 1 deficiency; kyphoscoliotic ehlers-danlos syndrome due to lysyl hydroxylase 1 deficiency; lysyl hydroxylase-deficient eds; ocular scoliotic eds (ehlers-danlos syndrome); ocular-scoliotic eds; plod1-related kyphoscoliotic ehlers-danlos syndrome; protocollagen lysyl hydroxylase deficiency","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency is a rare subtype of Kyphoscoliotic Ehlers-Danlos syndrome, a genetic connective tissue disorder. It is characterized by reduced muscle tone (hypotonia) present at birth. This condition also causes kyphoscoliosis. Kyphoscoliosis is curvature of the spine. This curvature starts in early childhood and may worsen during the teenage years. It also causes loose and unstable joints that can lead to full or partial dislocations of the shoulders, hips, or knees. People with this syndrome may experience stretchy and fragile skin. The skin is prone to easy bruising and scarring. People may experience weakened medium-sized arteries that may rupture. They may also have lower bone density (osteopenia/osteoporosis). Symptoms also include a blueish tint in the white part of the eyes, small corneas, and/or a hernia near the belly button. Some people may also have a sunken or protruding chest, long and slender fingers, long limbs, clubfoot, and issues with vision. An atypical facial structure is also present for this subtype. This includes low set ears, skin folds in the upper eyelids that cover the inner corner of the eye (epicanthal folds), and a downward slant of the opening between the upper and lower eyelids. Features also include a high arched roof of the mouth. Genetic testing is necessary to confirm the diagnosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:1900","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016002","ORPHANET_ID__c":"ORPHA:1900","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ehlers-danlos cifoescoliótico por deficiencia de lisil hidroxilasa 1","Spanish_Description_Source__c":"ORPHA:1900","Spanish_Description__c":"Es un subtipo poco frecuente del síndrome de Ehlers-Danlos cifoescoliótico caracterizado por hipotonía muscular congénita, cifoescoliosis congénita o de inicio temprano (progresiva o no progresiva) e hipermovilidad articular generalizada con luxaciones/subluxaciones (en particular de hombros, caderas y rodillas). Otras características adicionales comunes incluyen hiperextensibilidad de la piel, fácil formación de hematomas en la piel, ruptura/aneurisma de una arteria de tamaño medio, osteopenia/osteoporosis, esclerótica azul, hernia umbilical o inguinal, deformidad torácica, hábito marfanoide, pie zambo (talipes equinovaro) y errores de refracción. Las manifestaciones específicas del subtipo incluyen fragilidad de la piel, cicatrización atrófica, fragilidad/ruptura escleral/ocular, microcórnea y dismorfia facial (orejas de implantación baja, pliegues epicánticos, fisuras palpebrales inclinadas hacia abajo, paladar alto). Las pruebas moleculares son necesarias para la confirmación diagnóstica.","Spanish_Disease_Name__c":"síndrome de ehlers-danlos cifoescoliótico por deficiencia de lisil hidroxilasa 1","Spanish_GARD_Synonym__c":"sed cifoescoliótico asociado a plod1; sed cifoescoliótico por deficiencia de lisil hidroxilasa 1; sed deficiente en lisil hidroxilasa; sed ocular-escoliótico; sed via; síndrome de ehlers-danlos tipo 6a","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":"Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency is a rare subtype of Kyphoscoliotic Ehlers-Danlos syndrome, a genetic connective tissue disorder. It is characterized by reduced muscle tone (hypotonia) present at birth. This condition also causes kyphoscoliosis. Kyphoscoliosis is curvature of the spine. This curvature starts in early childhood and may worsen during the teenage years. It also causes loose and unstable joints that can lead to full or partial dislocations of the shoulders, hips, or knees. People with this syndrome may experience stretchy and fragile skin. The skin is prone to easy bruising and scarring. People may experience weakened medium-sized arteries that may rupture. They may also have lower bone density (osteopenia/osteoporosis). Symptoms also include a blueish tint in the white part of the eyes, small corneas, and/or a hernia near the belly button. Some people may also have a sunken or protruding chest, long and slender fingers, long limbs, clubfoot, and issues with vision. An atypical facial structure is also present for this subtype. This includes low set ears, skin folds in the upper eyelids that cover the inner corner of the eye (epicanthal folds), and a downward slant of the opening between the upper and lower eyelids. Features also include a high arched roof of the mouth. Genetic testing is necessary to confirm the diagnosis.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"eds 6; eds via; eds, kyphoscoliotic type; eds, oculoscoliotic type; eds6; edskscl1; ehlers-danlos syndrome kyphoscoliotic type; ehlers-danlos syndrome type 6a; ehlers-danlos syndrome, hydroxylysine-deficient; ehlers-danlos syndrome, kyphoscoliotic type; ehlers-danlos syndrome, lysyl hydroxylase deficient; ehlers-danlos syndrome, ocular-scoliotic type; ehlers-danlos syndrome, oculoscoliotic type; ehlers-danlos syndrome, type 6; ehlers-danlos syndrome, type via; hydroxylysine-deficient collagen disease; keds-plod1; kyphoscoliotic eds due to lysyl hydroxylase 1 deficiency; kyphoscoliotic ehlers-danlos syndrome due to lysyl hydroxylase 1 deficiency; lysyl hydroxylase-deficient eds; ocular scoliotic eds (ehlers-danlos syndrome); ocular-scoliotic eds; plod1-related kyphoscoliotic ehlers-danlos syndrome; protocollagen lysyl hydroxylase deficiency","Name":"Ehlers-Danlos syndrome, kyphoscoliotic type 1","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Ehlers-Danlos Support UK","Website__c":"https://www.ehlers-danlos.org/"},{"Account_Name__c":"Ehlers-Danlos Society","Website__c":"https://www.ehlers-danlos.com/"},{"Account_Name__c":"Bobby Jones Chiari & Syringomyelia Foundation","Website__c":"https://bobbyjonescsf.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Neonatal","Provided_By__c":"ORPHA:1900"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1900"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1462","Source__c":"Gene Review","Xref__c":"NBK1462"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75672","Source__c":"C0268342","Xref__c":"MEDGEN:75672"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718211004","Source__c":"MONDO:0016002","Xref__c":"718211004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536198","Source__c":"MONDO:0016002","Xref__c":"C536198"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268342","Source__c":"C0268342","Xref__c":"C0268342"},{"URL__c":"https://www.orpha.net/en/disease/detail/1900","Source__c":"C0268342; MONDO:0016002; ORPHA:1900","Xref__c":"ORPHA:1900"},{"URL__c":"https://www.omim.org/entry/225400","Source__c":"C0268342; MONDO:0016002; ORPHA:1900","Xref__c":"OMIM:225400"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080734","Source__c":"MONDO:0016002","Xref__c":"DOID:0080734"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C125700","Source__c":"C0268342; MONDO:0016002","Xref__c":"C125700"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016002","Source__c":"GARD:0022216","Xref__c":"MONDO:0016002"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=25606004","Source__c":"C0268342","Xref__c":"25606004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PLOD1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/plod1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030043","HPO_Synonym__c":"Partial hip dislocation; Subluxation involving the hip joint","HPO_Name__c":"Hip subluxation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003199","HPO_Synonym__c":"Decreased muscle mass","HPO_Name__c":"Decreased muscle mass","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Frequent (30-79%)","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:1900","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:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003458","HPO_Synonym__c":"EMG: myopathic changes; EMG: myopathy; Myopathic electromyogram","HPO_Name__c":"EMG: myopathic abnormalities","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001635","HPO_Synonym__c":"Cardiac failure; Cardiac failures; Cardiac insufficiency; CHF; Chronic heart failure; Heart failure","HPO_Name__c":"Congestive heart failure","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","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:1900","HPO_Frequency__c":"Frequent (30-79%)","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:1900","HPO_Frequency__c":"Frequent (30-79%)","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:1900","HPO_Frequency__c":"Uncommon (<1-4%)","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:1900","HPO_Frequency__c":"Occasional (5-29%)","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:1900","HPO_Frequency__c":"Occasional (5-29%)","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:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008780","HPO_Name__c":"Congenital bilateral hip dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Very frequent (80-99%)","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:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A partial dislocation of the shoulder joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003835","HPO_Synonym__c":"Partial shoulder dislocation","HPO_Name__c":"Shoulder subluxation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal bluish coloration of the sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000592","HPO_Synonym__c":"Blue sclera; Bluish sclerae; Gray sclerae; Whites of eyes are a bluish-gray color","HPO_Name__c":"Blue sclerae","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","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:1900","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000939","HPO_Name__c":"Osteoporosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Reduced ability to walk in a straight line while placing the feet heel to toe.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031629","HPO_Synonym__c":"Clumsy tandem walking","HPO_Name__c":"Impaired tandem gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality characterized by disruption of the normal functioning of peripheral axons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003477","HPO_Synonym__c":"Axonal neuropathy; Axonal peripheral neuropathy","HPO_Name__c":"Peripheral axonal neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Displacement or malalignment of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001373","HPO_Synonym__c":"Joint dislocation; Joint dislocations","HPO_Name__c":"Joint dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","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:1900","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormality of the pinna, which is also referred to as the auricle or external ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000377","HPO_Synonym__c":"Abnormal form of ears; Abnormally shaped ears; Auricular malformation; Deformed auricles; Deformed ears; Dysplastic ears; Malformation of auricle; Malformed auricles; Malformed ears; Malformed external ears; Minor malformation of the auricles; Poorly defined conchae","HPO_Name__c":"Abnormal pinna morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005659","HPO_Name__c":"Thoracic kyphoscoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of stability of a distal joint (e.g., finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020152","HPO_Synonym__c":"Distal joint laxity","HPO_Name__c":"Distal joint hypermobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Uncommon (<1-4%)","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":"ORPHA:1900","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A condition in which the affected individual cannot extend the wrist, which hangs flaccidly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031189","HPO_Name__c":"Wrist drop","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","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:1900","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Displacement of the femur from its normal location in the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002827","HPO_Synonym__c":"Dislocated femoral heads; 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:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000501","HPO_Name__c":"Glaucoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002091","HPO_Synonym__c":"Restrictive deficit on pulmonary function testing; Restrictive deficit on pulmonary function tests; Restrictive respiratory disease; Restrictive respiratory insufficiency; Restrictive respiratory syndrome; Spirometric restriction; Stiff lung or chest wall causing decreased lung volume","HPO_Name__c":"Restrictive ventilatory defect","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Procedure_PFT"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000243","HPO_Synonym__c":"Triangular cranium shape; Triangular skull shape; Wedge shaped cranium; Wedge shaped skull","HPO_Name__c":"Trigonocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012379","HPO_Name__c":"Abnormal circulating enzyme concentration or activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001319","HPO_Synonym__c":"Hypotonia, in neonatal onset; Hypotonia, neonatal; Low muscle tone, in neonatal onset","HPO_Name__c":"Neonatal hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","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:1900","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An anomaly of vein.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002624","HPO_Synonym__c":"Abnormal vein; Venous abnormality","HPO_Name__c":"Abnormal venous morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006532","HPO_Synonym__c":"Multiple pulmonary infections; Pneumonia, recurrent; Pneumonia, recurrent episodes; Pulmonary infection; Pulmonary infections; pulmonary infections, recurrent; Recurrent pneumonia; Recurrent pulmonary infections","HPO_Name__c":"Recurrent pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002495","HPO_Synonym__c":"Decreased vibration sense; Decreased vibratory sense; Diminished vibratory sense; Hypopallesthesia; Impaired vibratory sensation; Impaired vibratory sense","HPO_Name__c":"Impaired vibratory sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Very frequent (80-99%)","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:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003324","HPO_Synonym__c":"Generalized weakness; Muscle weakness, diffuse; Muscle weakness, generalized","HPO_Name__c":"Generalized muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","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:1900","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002943","HPO_Name__c":"Thoracic scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A separation (dissection) of the layers of an artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005294","HPO_Name__c":"Arterial dissection","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","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:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002194","HPO_Synonym__c":"Delayed attainment of gross motor milestones; Delayed attainment of gross motor skills; Delayed development of gross motor milestones; Delayed development of gross motor skills; Delayed gross motor milestones; Delayed gross motor skills; Delayed motor skills; Developmental delay, gross motor; Gross motor delay; Limited gross motor development; Limited gross motor skills","HPO_Name__c":"Delayed gross motor development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000540","HPO_Synonym__c":"Farsightedness; Hyperopia; Long-sightedness","HPO_Name__c":"Hypermetropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of a high and narrow palate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002705","HPO_Synonym__c":"Gothic palate; High narrow palate; High vaulted palate; High, narrow palate; Narrow and high arched palate; Narrow, high-arched palate; Narrow, high-arched roof of mouth; Narrow, highly arched palate; Narrow, highly arched roof of mouth","HPO_Name__c":"High, narrow palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Breakage of the sclera.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025513","HPO_Name__c":"Scleral rupture","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength and weakness of the muscles of the arms and legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003690","HPO_Synonym__c":"Limb muscle weakness; Limb weakness","HPO_Name__c":"Limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001892","HPO_Synonym__c":"Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis","HPO_Name__c":"Abnormal bleeding","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Separation of the inner layers of the retina (neural retina) from the pigment epithelium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000541","HPO_Synonym__c":"Detached retina; Retinal detachment","HPO_Name__c":"Retinal detachment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal outpouching or sac-like dilatation in the wall of an artery, vein or the heart.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002617","HPO_Synonym__c":"Aneurysmal dilatation; Wider than typical opening or gap","HPO_Name__c":"Vascular dilatation","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000482","HPO_Synonym__c":"Cornea of eye less than 10mm in diameter; Decreased corneal diameter","HPO_Name__c":"Microcornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001519","HPO_Synonym__c":"Dolichostenomelia; Marfanoid body habitus; Marfanoid habitus; Reduced upper-lower segment ratio","HPO_Name__c":"Disproportionate tall stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002647","HPO_Synonym__c":"Tear in inner wall of large artery that carries blood away from heart","HPO_Name__c":"Aortic dissection","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100295","HPO_Synonym__c":"Muscle fiber atrophy; Muscle fiber degeneration","HPO_Name__c":"Muscle fiber atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031158","HPO_Name__c":"Widened atrophic scar","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atypically scarred skin .","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000987","HPO_Synonym__c":"Atypical scarring; Atypical scarring of skin","HPO_Name__c":"Atypical scarring of skin","Feature_System__c":"Skin System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001315","HPO_Synonym__c":"Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes","HPO_Name__c":"Reduced tendon reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Very frequent (80-99%)","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:1900","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Any abnormality of the brachial nerve plexus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045052","HPO_Name__c":"Abnormality of the brachial nerve plexus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1900","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004942","HPO_Synonym__c":"Aortic dilatation; Bulge in wall of large artery that carries blood away from heart; Enlarged aorta","HPO_Name__c":"Aortic aneurysm","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Ophthalmology","Rheumatology","Dermatology","Orthopedics","Pediatrics"],"Account":["Dermatology"]},"synonyms":["eds 6"," eds via"," eds, kyphoscoliotic type"," eds, oculoscoliotic type"," eds6"," edskscl1"," ehlers-danlos syndrome kyphoscoliotic type"," ehlers-danlos syndrome type 6a"," ehlers-danlos syndrome, hydroxylysine-deficient"," ehlers-danlos syndrome, kyphoscoliotic type"," ehlers-danlos syndrome, lysyl hydroxylase deficient"," ehlers-danlos syndrome, ocular-scoliotic type"," ehlers-danlos syndrome, oculoscoliotic type"," ehlers-danlos syndrome, type 6"," ehlers-danlos syndrome, type via"," hydroxylysine-deficient collagen disease"," keds-plod1"," kyphoscoliotic eds due to lysyl hydroxylase 1 deficiency"," kyphoscoliotic ehlers-danlos syndrome due to lysyl hydroxylase 1 deficiency"," lysyl hydroxylase-deficient eds"," ocular scoliotic eds (ehlers-danlos syndrome)"," ocular-scoliotic eds"," plod1-related kyphoscoliotic ehlers-danlos syndrome"," protocollagen lysyl hydroxylase deficiency"]}