Joubert syndrome 21

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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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cspp1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014288 - Joubert syndrome 21

MONDO:0014288 - Joubert syndrome 21

MIM:

MIM:615636 - JOUBERT SYNDROME 21; JBTS21

MIM:615636 - JOUBERT SYNDROME 21; JBTS21

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)