Joubert syndrome
Sign in to saveAlso known as JBTS, cerebellooculorenal syndrome, Joubert syndrome type A, CPD IV, Pure Joubert syndrome, Classic Joubert syndrome, Joubert-Boltshauser syndrome, Cerebelloparenchymal disorder IV
genetic disorder affecting the cerebellum
In the Vinony graph
Within Vinony's link graph, Joubert syndrome is referenced by 109 other articles, and connects out to cilium, Online Mendelian Inheritance in Man and dominance.
It is catalogued under topics including Ciliopathy, Genetic syndromes and Genodermatoses.
Its subject is documented across 15 Wikipedia language editions.
Wikidata facts
- Subclass of
- encephalopathy
Show 6 more facts
- health specialty
- medical genetics
- exact match
- www.orpha.net/ORDO/Orphanet_475
- NCI Thesaurus ID
- C74996
- external data available at URL
- www.nanbyou.or.jp/entry/4552
- Commons category
- Joubert syndrome
- on focus list of Wikimedia project
- WikiProject Medicine
Sources (6)
via Wikidata · CC0
Connections
cilium
Entity
Online Mendelian Inheritance in Man
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dominance
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Meckel syndrome
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human
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cell
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Montreal
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International Standard Book Number
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gene
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Wayback Machine
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digital object identifier
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mutation
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magnetic resonance imaging
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organelle
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cerebellum
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Ashkenazi Jews
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International Statistical Classification of Diseases and Related Health Problems
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PubMed
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human brain
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McGill University
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