Joubert syndrome - Ontology Browser

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Joubert syndrome (DOID:0050777)
Annotations: Rat: (414) Mouse: (416) Human: (488) Chinchilla: (385) Bonobo: (414) Dog: (415) Squirrel: (386) Pig: (403) Naked Mole-rat: (378) Green Monkey: (414)

Parent Terms

Term With Siblings

Child Terms

cerebellar disease + is-a

ciliopathy + is-a

Alstrom syndrome

Arima Syndrome

Bardet-Biedl syndrome +

Behrens Baumann Dust Syndrome

Caroli disease +

Cerebellar Degeneration-Related Autoantigen 3

cerebellar hypoplasia +

Cerebellar Neoplasms +

Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome

Cerebellar, Ocular, Craniofacial, and Genital Syndrome

Cerebelloparenchymal Disorder VI

Ciliary Motility Disorders +

Dandy-Walker syndrome +

Dykes Markes Harper Syndrome

Dystonia with Cerebellar Atrophy

Glycosylphosphatidylinositol Biosynthesis Defect 15

Joubert syndrome +

A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. (DO)

L-2-hydroxyglutaric aciduria

Meckel syndrome +

Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability

Miller Fisher syndrome

Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures

Paraneoplastic Cerebellar Degeneration

pontocerebellar hypoplasia +

Porencephaly Cerebellar Hypoplasia Malformations

PORETTI-BOLTSHAUSER SYNDROME

primary cerebellar degeneration +

Stevenson-Carey Syndrome

Subacute Cerebellar Degeneration

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JOUBERT SYNDROME 35

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Joubert syndrome 9

Joubert syndrome with orofaciodigital defect

Meckel Syndrome 10

nephronophthisis 12

nephronophthisis 14

Synonyms
Exact Synonyms:	JBTS ; Joubert syndrome and related disorders
Xrefs:	GARD:6802 ; MIM:PS213300 ; NCI:C74996 ; ORDO:475
Definition Sources:	http://en.wikipedia.org/wiki/Joubert_syndrome "DO" "DO", http://omim.org/entry/213300?search=joubert&highlight=joubert "DO" "DO"

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