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Statements

Subject Item
dbr:Johanson–Blizzard_syndrome
rdf:type
yago:WikicatAutosomalRecessiveDisorders yago:Anomaly114505821 yago:Imperfection114462666 yago:Attribute100024264 yago:Condition113920835 yago:Concept105835747 wikidata:Q12136 yago:Cognition100023271 yago:PhysicalCondition114034177 yago:Defect114464005 yago:Content105809192 owl:Thing yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:Abstraction100002137 yago:WikicatGeneticDisorders yago:Complex105870365 yago:Idea105833840 yago:WikicatCongenitalDisordersOfDigestiveSystem yago:PsychologicalFeature100023100 yago:BirthDefect114465048 yago:Disorder114052403 yago:Abnormality114501726 yago:Whole105869584 yago:State100024720 yago:WikicatSyndromes yago:Syndrome105870790 dbo:Disease yago:GeneticDisease114151139 yago:Disease114070360
rdfs:label
Sindrome di Johanson-Blizzard Zespół Johanson-Blizzarda متلازمة جوهانسون-بليزارد Johanson-Blizzard-Syndrom Syndrome de Johanson-Blizzard Johanson–Blizzard syndrome
rdfs:comment
Das Johanson-Blizzard Syndrom (JBS) ist eine seltene, manchmal tödlich verlaufende Erbkrankheit mehrerer Organsysteme, die durch eine gestörte Entwicklung von Bauchspeicheldrüse, Nase und Kopfschwarte gekennzeichnet ist und mit Intelligenzminderung, Hörverlust und Kleinwuchs einhergeht. Die Störung wird gelegentlich als ektodermale Dysplasie beschrieben und üblicherweise als eine erblich bedingte Erkrankung der Bauchspeicheldrüse betrachtet. Die Erkrankung ist nach den amerikanischen Kinderärzten Ann J. Johanson und Robert. M. Blizzard benannt, die diese Störung 1971 erstmals beschrieben haben. La sindrome di Johanson-Blizzard è una malattia genetica rara a trasmissione autosomica recessiva. Johanson–Blizzard syndrome is a rare, sometimes fatal autosomal recessive multisystem congenital disorder featuring abnormal development of the pancreas, nose and scalp, with intellectual disability, hearing loss and growth failure. It is sometimes described as a form of ectodermal dysplasia. The disorder is especially noted for causing profound developmental errors and exocrine dysfunction of the pancreas, and it is considered to be an inherited pancreatic disease. Le syndrome de Johanson-Blizzard est une maladie génétique rare à transmission autosomique récessive décrite pour la première fois en 1971. Zespół Johanson-Blizzarda (łac. syndroma Johanson-Blizzard ang. Johanson-Blizzard syndrome, JBS) – genetycznie uwarunkowany zespół wad wrodzonych charakteryzujący się niedoczynnością zewnątrzwydzielniczą trzustki, hipoplazją skrzydełek nosa, , niedosłuchem odbiorczym oraz niepełnosprawnością intelektualną. متلازمة جوهانسون-بليزارد هي نادرة، وقاتلة في بعض الأحيان تنتج من صفة متنحية تسبب عيب خلقي متعدد، يضم نمو غير طبيعي للبنكرياس والأنف وفروة الرأس، مع تخلف عقلي، وفقدان السمع وفشل في النمو. يتم وصفها في بعض الأحيان بأنها شكل من أشكال خلل التنسج الأديمي الظاهر. من الملاحظ أن تسبب هذه المتلازمة اضطراب النمو العميقة وقصور إفرازات البنكرياس، ويعتقد أن هذه المتلازمة مرض بنكرياس موروث.
foaf:name
Johanson-Blizzard syndrome
dbp:name
Johanson-Blizzard syndrome
foaf:depiction
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dcterms:subject
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dbo:thumbnail
n4:Johanson-Blizzard_syndrome.png?width=300
dbp:diseasesdb
31914
dbp:icd
Q87.8 751.7
dbp:omim
243800
dbp:orphanet
2315
dbp:symptoms
pancreatic insufficiency, intellectual disability, distinctive craniofacial abnormalities, intestinal malabsorption, deafness, dental abnormalities
dbp:caption
Photographs of individuals with Johanson-Blizzard Syndrome showing characteristic facial features.
dbp:synonyms
JBS
dbo:abstract
Das Johanson-Blizzard Syndrom (JBS) ist eine seltene, manchmal tödlich verlaufende Erbkrankheit mehrerer Organsysteme, die durch eine gestörte Entwicklung von Bauchspeicheldrüse, Nase und Kopfschwarte gekennzeichnet ist und mit Intelligenzminderung, Hörverlust und Kleinwuchs einhergeht. Die Störung wird gelegentlich als ektodermale Dysplasie beschrieben und üblicherweise als eine erblich bedingte Erkrankung der Bauchspeicheldrüse betrachtet. Die Erkrankung ist nach den amerikanischen Kinderärzten Ann J. Johanson und Robert. M. Blizzard benannt, die diese Störung 1971 erstmals beschrieben haben. Le syndrome de Johanson-Blizzard est une maladie génétique rare à transmission autosomique récessive décrite pour la première fois en 1971. Zespół Johanson-Blizzarda (łac. syndroma Johanson-Blizzard ang. Johanson-Blizzard syndrome, JBS) – genetycznie uwarunkowany zespół wad wrodzonych charakteryzujący się niedoczynnością zewnątrzwydzielniczą trzustki, hipoplazją skrzydełek nosa, , niedosłuchem odbiorczym oraz niepełnosprawnością intelektualną. La sindrome di Johanson-Blizzard è una malattia genetica rara a trasmissione autosomica recessiva. Johanson–Blizzard syndrome is a rare, sometimes fatal autosomal recessive multisystem congenital disorder featuring abnormal development of the pancreas, nose and scalp, with intellectual disability, hearing loss and growth failure. It is sometimes described as a form of ectodermal dysplasia. The disorder is especially noted for causing profound developmental errors and exocrine dysfunction of the pancreas, and it is considered to be an inherited pancreatic disease. متلازمة جوهانسون-بليزارد هي نادرة، وقاتلة في بعض الأحيان تنتج من صفة متنحية تسبب عيب خلقي متعدد، يضم نمو غير طبيعي للبنكرياس والأنف وفروة الرأس، مع تخلف عقلي، وفقدان السمع وفشل في النمو. يتم وصفها في بعض الأحيان بأنها شكل من أشكال خلل التنسج الأديمي الظاهر. من الملاحظ أن تسبب هذه المتلازمة اضطراب النمو العميقة وقصور إفرازات البنكرياس، ويعتقد أن هذه المتلازمة مرض بنكرياس موروث.
dbp:differential
cystic fibrosis, schwachman syndrome, Pearson marrow-pancreas syndrome
dbo:symptom
dbr:Intellectual_disability dbr:Craniofacial dbr:Teeth dbr:Deafness
dbo:icd9
751.7
prov:wasDerivedFrom
wikipedia-en:Johanson–Blizzard_syndrome?oldid=1086561398&ns=0
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38011
dbo:differentialDiagnosis
dbr:Cystic_fibrosis
dbo:diseasesDB
31914
dbo:icd10
Q87.8
dbo:omim
243800
dbo:orpha
2315
foaf:isPrimaryTopicOf
wikipedia-en:Johanson–Blizzard_syndrome