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bn:03371858n
Noun Concept
SYL
No term available
EN
Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Wikipedia
Relations
Sources
IS A
EN
rare disease
EN
brain disorder
EN
dominance
EN
ciliopathy
HAS KIND
EN
Joubert syndrome with orofaciodigital defect
EN
Joubert syndrome with oculorenal defect
EN
COACH syndrome
GENETIC ASSOCIATION
EN
TMEM67
EN
MKS1
EN
ARL13B
EN
CPLANE1
EN
CEP104
+2 relations
HEALTH SPECIALTY
EN
medical genetics

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