{"Name":"Ehlers-Danlos syndrome, kyphoscoliotic type, 2","DiseaseID__c":"GARD:0017361","id":17361,"encodedName":"ehlers-danlos-syndrome-kyphoscoliotic-type-2","IsDeleted":false,"Disease_Name_Full__c":"Ehlers-Danlos syndrome, kyphoscoliotic type, 2","Xref_IDs__c":"720859009; C3281160; MEDGEN:482790; MONDO:0013800; OMIM:614557; ORPHA:300179","USA_Estimate__c":"1,000","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":"1 to 8,000","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:0013800","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 congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis.","GARD_Name__c":"Ehlers-Danlos syndrome, kyphoscoliotic type, 2","GARD_Synonym__c":"eds with progressive kyphoscoliosis, myopathy, and deafness; eds with progressive kyphoscoliosis, myopathy, and hearing loss; eds, kyphoscoliotic and hearing loss type; ehlers-danlos syndrome with kyphoscoliosis, myopathy, and deafness; ehlers-danlos syndrome with kyphoscoliosis, myopathy, and hearing loss; ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness; ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; ehlers-danlos syndrome, kyphoscoliotic and deafness type; ehlers-danlos syndrome, kyphoscoliotic and hearing loss type; fkbp14-related eds; fkbp22-deficient eds; keds-fkbp14; kyphoscoliotic eds due to fkbp22 deficiency; kyphoscoliotic ehlers-danlos syndrome due to fkbp22 deficiency","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency is a rare subtype of yphoscoliotic Ehlers-Danlos syndrome, a genetic connective tissue disorder. It is characterized by hypotonia (low muscle tone) that is present at birth. This condition causes early-onset kyphoscoliosis (curvature of the spine) that may or may not be progressive. This condition can also cause generalized joint hypermobility. Full or partial dislocations, may accompany hypermobility. Dislocations particularly occur in the shoulders, hips, and knees. Other common features include hyperextensible or stretchy skin. The skin bruises easily. Symptoms include aneurysms (bulging or weakened arteries). People with this condition may have brittle bones, and/or blue tint to the whites of the eyes. Symptoms may also include umbilical or inguinal (groin area) hernia. Symptoms may also include umbilical or inguinal (groin area) hernia. Other people have chest deformity, and/or tall, thin body shape known as marfanoid habitus. Some have clubfoot (talipes equinovarus), and vision problems. This subtype of kyphoscoliotic Ehlers-Danlos syndrome can be associated with sensorineural, conductive, or mixed hearing loss that is present at birth. It can also cause thickened skin on the scalp known as follicular hyperkeratosis. It can cause atrophy, or shrinkage, of muscles. Symptoms also include abnormal pouches in the bladder known as bladder diverticula. Genetic testing is necessary to confirm this diagnosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:300179","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013800","ORPHANET_ID__c":"ORPHA:300179","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ehlers-danlos cifoescoliótico por deficiencia de fkbp22","Spanish_Description_Source__c":"ORPHA:300179","Spanish_Description__c":"Es un subtipo poco frecuente del síndrome de Ehlers-Danlos cifoscoliótico caracterizado por hipotonía muscular y cifoscoliosis congénitas o de inicio temprano (progresiva o no progresiva) e hipermovilidad articular generalizada con luxaciones/subluxaciones (en particular de los hombros, las caderas y las rodillas). Otros hallazgos adicionales frecuentes son hiperextensibilidad cutánea, propensión a hematomas en la piel, ruptura/aneurisma de arterias medianas, osteopenia/osteoporosis, escleróticas azules, hernia umbilical o inguinal, deformidades torácicas, hábito marfanoide, pie zambo y defectos de refracción. Las manifestaciones específicas del subtipo incluyen deficiencia auditiva congénita (neurosensorial, de conducción o mixta), hiperqueratosis folicular, atrofia muscular y divertículos vesicales. Las pruebas moleculares son necesarias para la confirmación diagnóstica.","Spanish_Disease_Name__c":"síndrome de ehlers-danlos cifoescoliótico por deficiencia de fkbp22","Spanish_GARD_Synonym__c":"sed asociado a fkbp14; sed cifoescoliótico por deficiencia de fkbp22; sed deficiente en fkbp22; síndrome de ehlers-danlos con cifoescoliosis, miopatía e hipoacusia; síndrome de ehlers-danlos con cifoescoliosis, miopatía y sordera","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 FKBP22 deficiency is a rare subtype of yphoscoliotic Ehlers-Danlos syndrome, a genetic connective tissue disorder. It is characterized by hypotonia (low muscle tone) that is present at birth. This condition causes early-onset kyphoscoliosis (curvature of the spine) that may or may not be progressive. This condition can also cause generalized joint hypermobility. Full or partial dislocations, may accompany hypermobility. Dislocations particularly occur in the shoulders, hips, and knees. Other common features include hyperextensible or stretchy skin. The skin bruises easily. Symptoms include aneurysms (bulging or weakened arteries). People with this condition may have brittle bones, and/or blue tint to the whites of the eyes. Symptoms may also include umbilical or inguinal (groin area) hernia. Symptoms may also include umbilical or inguinal (groin area) hernia. Other people have chest deformity, and/or tall, thin body shape known as marfanoid habitus. Some have clubfoot (talipes equinovarus), and vision problems. This subtype of kyphoscoliotic Ehlers-Danlos syndrome can be associated with sensorineural, conductive, or mixed hearing loss that is present at birth. It can also cause thickened skin on the scalp known as follicular hyperkeratosis. It can cause atrophy, or shrinkage, of muscles. Symptoms also include abnormal pouches in the bladder known as bladder diverticula. Genetic testing is necessary to confirm this diagnosis.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"eds with progressive kyphoscoliosis, myopathy, and deafness; eds with progressive kyphoscoliosis, myopathy, and hearing loss; eds, kyphoscoliotic and hearing loss type; ehlers-danlos syndrome with kyphoscoliosis, myopathy, and deafness; ehlers-danlos syndrome with kyphoscoliosis, myopathy, and hearing loss; ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness; ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; ehlers-danlos syndrome, kyphoscoliotic and deafness type; ehlers-danlos syndrome, kyphoscoliotic and hearing loss type; fkbp14-related eds; fkbp22-deficient eds; keds-fkbp14; kyphoscoliotic eds due to fkbp22 deficiency; kyphoscoliotic ehlers-danlos syndrome due to fkbp22 deficiency","Name":"Ehlers-Danlos syndrome, kyphoscoliotic type, 2","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"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:300179"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:300179"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK541503","Source__c":"Gene Review","Xref__c":"NBK541503"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3281160","Source__c":"C3281160","Xref__c":"C3281160"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=482790","Source__c":"C3281160","Xref__c":"MEDGEN:482790"},{"URL__c":"https://www.omim.org/entry/614557","Source__c":"C3281160; MONDO:0013800; ORPHA:300179","Xref__c":"OMIM:614557"},{"URL__c":"https://www.orpha.net/en/disease/detail/300179","Source__c":"C3281160; MONDO:0013800","Xref__c":"ORPHA:300179"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720859009","Source__c":"MONDO:0013800","Xref__c":"720859009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013800","Source__c":"GARD:0017361","Xref__c":"MONDO:0013800"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FKBP14","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fkbp14","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:300179","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300179","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the globe of the eye, or bulbus oculi.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012372","HPO_Synonym__c":"Abnormal eye structure; Abnormality of the globe; Abnormally shaped eye","HPO_Name__c":"Abnormal eye morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300179","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100790","HPO_Name__c":"Hernia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300179","HPO_Frequency__c":"Uncommon (<1-4%)","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:300179","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300179","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:300179","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002751","HPO_Name__c":"Kyphoscoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300179","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to fatigue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003388","HPO_Name__c":"Easy fatigability","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300179","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003198","HPO_Synonym__c":"Muscle tissue disease; Myopathic changes","HPO_Name__c":"Myopathy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300179","HPO_Frequency__c":"Very frequent (80-99%)","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:300179","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:300179","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:300179","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006829","HPO_Synonym__c":"Hypotonia, severe; Severely decreased muscle tone","HPO_Name__c":"Severe muscular hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300179","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:300179","HPO_Frequency__c":"Uncommon (<1-4%)","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:300179","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002421","HPO_Synonym__c":"Delay in head control; Delay in head righting; Infant head lag; Poor head control","HPO_Name__c":"Poor head control","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300179","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:300179","HPO_Frequency__c":"Very frequent (80-99%)","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:300179","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:300179","HPO_Frequency__c":"Frequent (30-79%)","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:300179","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:300179","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007502","HPO_Synonym__c":"Hyperkeratosis follicularis","HPO_Name__c":"Follicular hyperkeratosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:300179","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Dermatology","Congenital Abnormality"],"Specialist":["Genetics","Rheumatology","Dermatology","Orthopedics","Pediatrics"],"Account":["Dermatology"]},"synonyms":["eds with progressive kyphoscoliosis, myopathy, and deafness"," eds with progressive kyphoscoliosis, myopathy, and hearing loss"," eds, kyphoscoliotic and hearing loss type"," ehlers-danlos syndrome with kyphoscoliosis, myopathy, and deafness"," ehlers-danlos syndrome with kyphoscoliosis, myopathy, and hearing loss"," ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness"," ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss"," ehlers-danlos syndrome, kyphoscoliotic and deafness type"," ehlers-danlos syndrome, kyphoscoliotic and hearing loss type"," fkbp14-related eds"," fkbp22-deficient eds"," keds-fkbp14"," kyphoscoliotic eds due to fkbp22 deficiency"," kyphoscoliotic ehlers-danlos syndrome due to fkbp22 deficiency"]}