ZFIN Human Disease: Joubert syndrome

OBO ID: DOID:0050777

Term Name:	Joubert syndrome		Search Ontology:
Synonyms:	JBTS
Definition:	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. (2)
References:	GARD:6802 ICD10CM:Q04.3 OMIM:PS213300 ORDO:475
Ontology:	Human Disease ( DOID:0050777 )

Relationships

is a type of:

has subtype:

...

Show All 31 Terms

OTHER Joubert syndrome PAGES

Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS

Fish	Conditions	Citations
ahi1^lri46/lri46	standard conditions	Lessieur et al., 2017
armc9^zh502/zh502	standard conditions	Latour et al., 2020
armc9^zh503/zh503	standard conditions	Latour et al., 2020
armc9^zh504/zh504	standard conditions	Latour et al., 2020
armc9^zh505/zh505	standard conditions	Latour et al., 2020
cc2d2a^w38/w38	standard conditions	Bachmann-Gagescu et al., 2011
inpp5e^tju62/tju62	standard conditions	Xu et al., 2017
togaram1^zh508/zh508	standard conditions	Latour et al., 2020
togaram1^zh509/zh509	standard conditions	Latour et al., 2020
togaram1^zh510/zh510	standard conditions	Latour et al., 2020

PHENOTYPE No data available

CITATIONS (26)