|
DOID:0050777 - Joubert syndrome
Disease Ontology 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.
Synonyms: JBTS,
Echinobase Genes
:
ahi1,
cspp1,
pde6d,
cep290,
tmem138,
arl13b,
cplane1,
nphp1,
cep41,
tmem67,
rpgrip1l,
tmem231
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
ciliopathy (is_a)