ZFIN Human Disease: Joubert syndrome 1

OBO ID: DOID:0110980

Term Name:	Joubert syndrome 1		Search Ontology:
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:	OMIM: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 Joubert syndrome 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
INPP5E	inpp5e	Joubert syndrome 1	213300

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None