{"orpha":800,"name":"Schwartz-Jampel syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Aberfeld syndrome","Burton skeletal dysplasia","Burton syndrome","Catel-Hempel syndrome","Dysostosis enchondralis metaepiphysaria, Catel-Hempel type","Myotonic chondrodystrophy","Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies","Osteochondromuscular dystrophy","SJS","SJS1","Schwartz-Jampel syndrome type 1","Schwartz-Jampel-Aberfeld syndrome"],"definition":"A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-800/","orphanet_url":"https://www.orpha.net/en/disease/detail/800","names":{"fr":{"name":"Syndrome de Schwartz-Jampel","synonyms":["Dysplasie squelettique de Burton","Dystrophie ostéo-chondro-musculaire","Myotonie chondrodystrophique","Syndrome d'Aberfeld","Syndrome de Burton","Syndrome de Catel-Hempel","Syndrome de Schwartz-Jampel type 1","Syndrome de Schwartz-Jampel-Aberfeld"],"definition":"Maladie neuromusculaire rare d'origine génétique qui se caractérise par une myotonie permanente, une expression faciale figée (associée à un blépharophimosis, un rétrécissement de fentes palpébrales, une bouche de petite taille, des lèvres pincées et un menton plissé), ainsi que par une chondrodysplasie (se manifestant de façon variable par une petite taille, un pectus carinatum, une cyphoscoliose, une courbure des os longs, une dysplasie épiphysaire, métaphysaire et de la hanche)."},"de":{"name":"Schwartz-Jampel-Syndrom","synonyms":["Aberfeld-Syndrom","Burton Skelettdysplasie","Burton-Syndrom","Catel-Hempel-Syndrom","Chondrodystrophie, myotone","Dysostosis enchondralis metaepiphysaria vom Catel-Hempel Typ","Osteo-chondro-muskuläre Dystrophie","SJS","SJS1","Schwartz-Jampel-Aberfeld-Syndrom","Schwartz-Jampel-Syndrom Typ 1"],"definition":"Eine seltene, genetisch bedingte neuromuskuläre Erkrankung, die durch eine permanente Myotonie, ein maskenhaftes Gesicht (mit Blepharospasmus, schmalen Lidspalten, kleinem Mund mit zusammengepressten Lippen und faltigem Kinn) und Chondrodysplasie (mit unterschiedlichen Erscheinungsformen wie Kleinwuchs, Pectus carinatum, Kyphoskoliose, Krümmung der Röhrenknochen, Epiphysen-, Metaphysen- und Hüftdysplasie) gekennzeichnet ist."},"es":{"name":"Síndrome de Schwartz-Jampel","synonyms":["Condrodistrofia miotónica","Disostosis endocondral metaepifisaria tipo Catel-Hempel","Displasia esquelética de Burton","Distrofia osteocondromuscular","Miopatía miotónica, enanismo, condrodistrofia, anomalías oculares y faciales","SJS","SJS1","Síndrome de Aberfeld","Síndrome de Burton","Síndrome de Catel-Hempel","Síndrome de Schwartz-Jampel tipo 1","Síndrome de Schwartz-Jampel-Aberfeld"],"definition":"Es una enfermedad neuromuscular de origen genético poco frecuente caracterizada por miotonía permanente, facies en máscara (con blefaroespasmo, fisuras palpebrales estrechas, boca pequeña con labios y mentón ''fruncidos'') y condrodisplasia (con manifestaciones variables como talla baja, pectus carinatum, cifoescoliosis, arqueamiento de los huesos largos, displasia epifisaria, metafisaria y de cadera)."},"it":{"name":"Sindrome di Schwartz-Jampel","synonyms":["Condrodistrofia miotonica","Disostosi encondrale metaepifisaria, tipo Catel-Hempel","Displasia scheletrica di Burton","Distrofia osteo-condro-muscolare","Miopatia miotonica - nanismo - condrodisplasia - anomalie oculari e facciali","SJS","SJS1","Sindrome di Aberfeld","Sindrome di Burton","Sindrome di Catel-Hempel","Sindrome di Schwartz-Jampel, tipo 1","Sindrome di Schwartz-Jampel-Aberfeld"],"definition":"Si tratta di una malattia neuromuscolare genetica rara, caratterizzata da miotonia permanente, facies ''a maschera'' (con blefarospasmo, rime palpebrali strette, bocca piccola con labbra serrate e mento corrugato) e condrodisplasia (che si manifesta in modo variabile con bassa statura, pectus carinatum, cifoscoliosi, incurvamento delle ossa lunghe, e displasia delle epifisi, delle metafisi e dell'anca)."},"nl":{"name":"Syndroom van Schwartz-Jampel","synonyms":["Dysostosis enchondralis metaepiphysaria, Catel-Hempel-type","Myotone chondrodystrofie","Myotone myopathie, dwerggroei, chondrodystrofie, oculaire en faciale anomalieën","Osteochondromusculaire dystrofie","SJS","SJS1","Skeletdysplasie van Burton","Syndroom van Aberfeld","Syndroom van Burton","Syndroom van Catel-Hempel","Syndroom van Schwartz-Jampel type 1","Syndroom van Schwartz-Jampel-Aberfeld"],"definition":"Een zeldzame, genetische neuromusculaire ziekte, gekarakteriseerd door permanente myotonie, maskergelaat (met blefarospasme, smalle ooglidspleten, kleine mond met getuite lippen en gerimpelde kin), en chondrodysplasie (die zich variabel manifesteert met kleine gestalte, pectus carinatum, kyfoscoliose, verkromming van pijpbeenderen, en dysplasie van epifysen, metafysen, en heup)."},"pt":{"name":"Síndrome Schwartz-Jampel","synonyms":["Condrodistrofia miotónica"],"definition":"A síndrome de Schwartz-Jampel (SJS) é caracterizada por miotonia e anomalias osteoarticulares."},"pl":{"name":"Zespół Schwartza i Jampela","synonyms":["Choroba Burtona","Chrzęstna dysostoza metaepifizealna, typu Catela i Hempela","Dysplazja szkieletowa Burtona","Dystrofia kostno-chrzęstno-mięśniowa","Miopatia miotoniczna, karłowatość, chondrodystrofia, anomalie oka i twarzy","Miotoniczna chondrodystrofia","SJS","SJS1","Zespół Aberfelda","Zespół Burtona","Zespół Catela i Hempela","Zespół Schwartza i Jampela typu 1","Zespół Schwartza, Jampela i Aberfelda"]},"cs":{"name":"Schwartzův-Jampelův syndrom","synonyms":["Burtonova skeletální dysplázie","Myotonická chondrodystrofie","Osteochondromuskulární dystrofie","SJS","SJS1","Aberfeldův syndrom","Burtonův syndrom","Catelův-Hempelův syndrom","Dysostosis enchondralis metaepiphysaria, Catelův-Hempelův typ","Myotonická myopatie, trpaslictví, chondrodystrofie, anomálie očí a tváře","Schwartzův-Jampelův syndrom 1. typu","Schwartzův-Jampelův-Aberfeldův syndrom","Schwartz-Jampelův syndrom","Catel-Hempelův syndrom","Dysostosis enchondralis metaepiphysaria, Catel-Hempelův typ","Schwartz-Jampelův syndrom 1. typu","Schwartz-Jampel-Aberfeldův syndrom"]},"uk":{"name":"Синдром Шварца-Ямпеля","synonyms":["Синдром Аберфельда","Скелетна дисплазія Бертона","Синдром Бертона","Синдром Кателя-Гемпеля","Дизостоз енхондральної метаепіфізарії, тип Кателя-Гемпеля","Міотонічна хондродистрофія","Міотонічна міопатія, карликовість, хондродистрофія, очні та лицьові аномалії","Остеохондро-мязова дистрофія","Синдром Шварца-Ямпеля, тип 1","Синдром Шварца-Ямпеля-Аберфельда","SJS","SJS1"],"definition":"A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia)."},"zh":{"name":"Schwartz-Jampel综合征","synonyms":["肌强直性肌病-侏儒-软骨营养不良-眼面畸形"]},"tr":{"name":"Schwartz-Jampel Sendromu","synonyms":["SJS","SJS1","Burton sendromu","Aberfeld sendromu","Catel-Hempel sendromu","Burton iskelet displazisi","Miyotonik kondrodistrofi","Osteokondrokas distrofi","Schwartz-Jampel sendromu tip 1","Schwartz-Jampel-Aberfeld sendromu","Disostoz enkondralis metaepifizarya, Catel-Hempel tipi","Miyotonik miyopati, cücelik, kondrodistrofi, oküler ve fasiyal anomalileri"]}},"xrefs":[{"source":"OMIM","code":"255800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"8C71.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1725668060"},{"source":"MONDO","code":"0009717","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0036391","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"250","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10082378","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":206973,"name":"Congenital myotonia","classifications":[156,181]},{"orpha":206644,"name":"Progressive muscular dystrophy","classifications":[156,181]},{"orpha":674499,"name":"Proteoglycan-related bone disorder","classifications":[156]},{"orpha":207101,"name":"Qualitative or quantitative defects of perlecan","classifications":[156]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"HSPG2","name":"heparan sulfate proteoglycan 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19367640[PMID]","hgnc":"5273","ensembl":"ENSG00000142798","omim":"142461","loci":["1p36.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":129.0,"area":"Worldwide","status":"Validated","source":"26436077[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26436077[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012544","label":"Elevated circulating aldolase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010508","label":"Metatarsus valgus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002486","label":"Myotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000205","label":"Pursed lips","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000211","label":"Trismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000600","label":"Abnormality of the pharynx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100569","label":"Abnormally ossified vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002673","label":"Coxa valga","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005830","label":"Flexion contracture of toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003273","label":"Hip contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003044","label":"Shoulder flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003712","label":"Skeletal muscle hypertrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003306","label":"Spinal rigidity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001621","label":"Weak voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001239","label":"Wrist flexion contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100795","label":"Abnormally straight spine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008056","label":"Aplasia/Hypoplasia affecting the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000643","label":"Blepharospasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009743","label":"Distichiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001083","label":"Ectopia lentis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007740","label":"Long eyelashes in irregular rows","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002047","label":"Malignant hyperthermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100612","label":"Odontogenic neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001557","label":"Prenatal movement abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003179","label":"Protrusio acetabuli","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100813","label":"Testicular torsion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Occasional (29-5%)","criteria":null}]}}