{"orpha":666,"name":"Osteogenesis imperfecta","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OI","Brittle bone disease","Glass bone disease","Lobstein disease"],"definition":"A rare, genetic, primary bone dysplasias characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures. The clinical severity is heterogeneous.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-666/","orphanet_url":"https://www.orpha.net/en/disease/detail/666","names":{"fr":{"name":"Ostéogenèse imparfaite","synonyms":["Maladie de Lobstein","Maladie des os de verre","OI"],"definition":"Dysplasie osseuse primaire rare d'origine génétique caractérisée par une fragilité osseuse excessive, une faible masse osseuse et une tendance aux fractures. La sévérité des signes clinique est hétérogène."},"de":{"name":"Osteogenesis imperfecta","synonyms":["Glasknochenkrankheit","Lobstein-Krankheit","OI","Porak-Durante-Krankheit"],"definition":"Eine seltene primäre Knochendysplasie, die durch erhöhte Knochenbrüchigkeit, verringerte Gewebeverdichtung und Anfälligkeit für Knochenbrüche gekennzeichnet ist. Der klinische Schweregrad ist heterogen."},"es":{"name":"Osteogénesis imperfecta","synonyms":["Enfermedad de Lobstein","Enfermedad de los huesos de cristal","OI"],"definition":"Es una displasia ósea primaria, de base genética y poco frecuente, caracterizada por un incremento de la fragilidad ósea, baja masa ósea y susceptibilidad a las fracturas óseas. La gravedad clínica es heterogénea."},"it":{"name":"Osteogenesi imperfetta","synonyms":["Malattia delle ossa di vetro","Malattia delle ossa fragili","Malattia di Lobstein","OI"],"definition":"L'osteogenesi imperfetta (OI) è una displasia scheletrica primitiva rara, di origine genetica, caratterizzata da un aumento della fragilità ossea, dalla riduzione della massa ossea e dalla predisposizione alle fratture. La gravità clinica è eterogenea."},"nl":{"name":"Osteogenesis imperfecta","synonyms":["Brozebottenziekte","Glazenbottenziekte","OI","Ziekte van Lobstein"],"definition":"Een zeldzame, genetische primaire botdysplasie, gekenmerkt door verhoogde botfragiliteit, lage botmassa, en susceptibiliteit voor botfracturen. De klinische ernst is heterogeen."},"pt":{"name":"Osteogenesis imperfecta","synonyms":["Doença de Lobstein","Doença dos ossos Brittle","Doença dos ossos de vidro","Doença dos ossos quebradiços","OI","Osteogénese imperfeita"],"definition":"Displasia óssea primária rara, genética, caracterizada por um aumento da fragilidade óssea, diminuição da massa óssea e suscetibilidade a fraturas ósseas. A gravidade clínica é heterogénea."},"pl":{"name":"Wrodzona łamliwość kości","synonyms":["Choroba szklanych kości","Osteopsathyrosis","Choroba kruchych kości","Choroba Lobsteina","Choroba Poraka i Durante","OI"]},"cs":{"name":"Osteogenesis imperfecta","synonyms":["Lobsteinova nemoc","OI","Osteopsathyrosis","Porakova a Durantova nemoc","Nemoc křehkých kostí","Nemoc skleněných kostí"],"definition":"Osteogenesis imperfecta (OI) se užívá jako název pro heterogenní skupinu genetických poruch typických sníženou pevností kostí, nízkou kvalitou kostní hmoty a náchylností ke zlomeninám kostí různé závažnosti."},"uk":{"name":"Недосконалий остеогенез","synonyms":["Захворювання крихких кісток","Хвороба скляної кістки","Хвороба Лобштейна","OI"],"definition":"A rare, genetic, primary bone dysplasias characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures. The clinical severity is heterogeneous."},"zh":{"name":"成骨不全","synonyms":["Porak和Durante病"]},"tr":{"name":"Osteogenezis imperfekta","synonyms":["OI","Lobstein hastalığı","Osteopsatiroz","Cam kemik hastalığı","Kırılgan kemik hastalığı","Porak ve Durante hastalığı"]}},"xrefs":[{"source":"OMIM","code":"166200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"166210","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"166220","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"166230","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"259420","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"259440","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"301014","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610682","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610915","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610967","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610968","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613848","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613849","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613982","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614856","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615066","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615220","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616229","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616507","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619131","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619795","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.0","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD24.K0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1219932551"},{"source":"MONDO","code":"0019019","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D010013","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0029434","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1017","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10031243","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare 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associated protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21438135[PMID]","hgnc":"2379","ensembl":"ENSG00000170275","omim":"605497","loci":["3p22.3"],"via":{"orpha":216820,"name":"Osteogenesis imperfecta type 4"}},{"symbol":"FKBP10","name":"FKBP prolyl isomerase 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21438135[PMID]_25046257[PMID]","hgnc":"18169","ensembl":"ENSG00000141756","omim":"607063","loci":["17q21.2"],"via":{"orpha":216812,"name":"Osteogenesis imperfecta type 3"}},{"symbol":"FKBP10","name":"FKBP prolyl isomerase 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21438135[PMID]_25046257[PMID]","hgnc":"18169","ensembl":"ENSG00000141756","omim":"607063","loci":["17q21.2"],"via":{"orpha":216820,"name":"Osteogenesis imperfecta type 4"}},{"symbol":"IFITM5","name":"interferon induced transmembrane protein 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22863190[PMID]_22863195[PMID]_25046257[PMID]","hgnc":"16644","ensembl":"ENSG00000206013","omim":"614757","loci":["11p15.5"],"via":{"orpha":216828,"name":"Osteogenesis imperfecta type 5"}},{"symbol":"MBTPS2","name":"membrane bound transcription factor peptidase, site 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27380894[PMID]","hgnc":"15455","ensembl":"ENSG00000012174","omim":"300294","loci":["Xp22.12"],"via":{"orpha":216812,"name":"Osteogenesis imperfecta type 3"}},{"symbol":"MBTPS2","name":"membrane bound transcription factor peptidase, site 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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protein acidic and cysteine rich","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26027498[PMID]","hgnc":"11219","ensembl":"ENSG00000113140","omim":"182120","loci":["5q33.1"],"via":{"orpha":216820,"name":"Osteogenesis imperfecta type 4"}},{"symbol":"TMEM38B","name":"transmembrane protein 38B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23313006[PMID]_25046257[PMID]","hgnc":"25535","ensembl":"ENSG00000095209","omim":"611236","loci":["9q31.2"],"via":{"orpha":216820,"name":"Osteogenesis imperfecta type 4"}}],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":8.06,"area":"Worldwide","status":"Validated","source":"31769437[PMID]_25944380[PMID]_24715559[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.4,"area":"France","status":"Validated","source":"2785882[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.4,"area":"Latin America","status":"Validated","source":"3746832[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Ireland","status":"Validated","source":"22375084[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.95,"area":"United States","status":"Validated","source":"22461456[PMID]_24715559[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.4,"area":"Sweden","status":"Validated","source":"25944380[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.375,"area":"China","status":"Validated","source":"34103049[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-04-08","source":"20301472[PMID]_25439022[PMID]_36905741[PMID]","terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011073","label":"Abnormality of dental color","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004331","label":"Decreased skull ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005019","label":"Diaphyseal thickening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000410","label":"Mixed hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000883","label":"Thin ribs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003103","label":"Abnormal cortical bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011314","label":"Abnormality of long bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004586","label":"Biconcave vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000973","label":"Cutis laxa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000703","label":"Dentinogenesis imperfecta","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004621","label":"Enlarged vertebral pedicles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003546","label":"Exercise intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002980","label":"Femoral bowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003084","label":"Fractures of the long bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006640","label":"Multiple ribs fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001730","label":"Progressive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003100","label":"Slender long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002953","label":"Vertebral compression fracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004306","label":"Abnormality of the endocardium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030267","label":"Calcification of the interosseus membrane of the forearm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003083","label":"Dislocated radial head","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030268","label":"Hyperplastic callus formation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005214","label":"Intestinal obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002011","label":"Morphological central nervous system abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002758","label":"Osteoarthritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003179","label":"Protrusio acetabuli","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004482","label":"Relative macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100661","label":"Trigeminal neuralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100761","label":"Visceral angiomatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002647","label":"Aortic dissection","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001659","label":"Aortic regurgitation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002616","label":"Aortic root aneurysm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005294","label":"Arterial dissection","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012366","label":"Basilar invagination","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002512","label":"Brain stem compression","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002947","label":"Cervical kyphosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010953","label":"Noncommunicating hydrocephalus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003396","label":"Syringomyelia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002273","label":"Tetraparesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005257","label":"Thoracic hypoplasia","frequency":"Very rare (<4-1%)","criteria":null}]}}