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DOID:0110980 - Joubert syndrome 1
Disease Ontology Definition:A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.
Synonyms: cerebellooculorenal syndrome 1, cerebelloparenchymal disorder IV, CORS1, CPD4, JBTS1
Xenbase Genes
:
cplane1,
tmem138,
cep41,
tmem231,
tctn2,
tmem237,
inpp5el,
ttc21b,
inpp5e
| MONDO:0008944 - Joubert syndrome 1 |
| MIM:213300 - JOUBERT SYNDROME 1; JBTS1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
Joubert syndrome (is_a)