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Echinobase
Summary Literature (0)
DOID:0110990 - Joubert syndrome 21

Disease Ontology Definition:A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13.

Synonyms: JBTS21,

Echinobase Genes : cspp1


OMIM:
MIM:615636 - joubert syndrome 21; jbts21

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Joubert syndrome (is_a)