Search Ontology:

Human Disease

Joubert syndrome 1

Term ID

DOID:0110980

Synonyms

cerebellooculorenal syndrome 1
cerebelloparenchymal disorder IV
CORS1
CPD4
JBTS1

Definition

A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. https://www.ncbi.nlm.nih.gov/pubmed/19668216

References

MIM:213300

Ontology

Human Disease ( DOID:0110980 )

Relationships

is a type of: Joubert syndrome

Joubert syndrome Show first 5 Terms
inverse disjoint_from: Joubert syndrome with orofaciodigital defect

Joubert syndrome with orofaciodigital defect Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models