JOUBERT SYNDROME 5

JBTS5

http://purl.bioontology.org/ontology/OMIM/610188

JBTS5

C1857780

12q21.3

KIAA0373

LCA10

JBTS5

CEP290

3H11AG

SLSN6

BBS14

http://purl.bioontology.org/ontology/OMIM/MTHU020097

http://purl.bioontology.org/ontology/OMIM/MTHU020095

http://purl.bioontology.org/ontology/OMIM/MTHU020093

http://purl.bioontology.org/ontology/OMIM/MTHU020101

http://purl.bioontology.org/ontology/OMIM/MTHU041789

http://purl.bioontology.org/ontology/OMIM/MTHU037363

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU041787

http://purl.bioontology.org/ontology/OMIM/MTHU036349

http://purl.bioontology.org/ontology/OMIM/MTHU003477

http://purl.bioontology.org/ontology/OMIM/MTHU020094

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU000629

http://purl.bioontology.org/ontology/OMIM/MTHU000621

http://purl.bioontology.org/ontology/OMIM/MTHU005737

http://purl.bioontology.org/ontology/OMIM/MTHU020098

http://purl.bioontology.org/ontology/OMIM/MTHU020096

http://purl.bioontology.org/ontology/OMIM/MTHU041788

http://purl.bioontology.org/ontology/OMIM/MTHU041786

http://purl.bioontology.org/ontology/OMIM/MTHU000197

Phenotype description, molecular basis known.

610188

3

pound

JOUBERT SYNDROME 5

Allelic to Senior-Loken syndrome 6 (610189) and Leber congenital amaurosis type X (610142) [MISCELLANEOUS]

Caused by mutation in the 290-kD centrosomal protein gene (CEP290, 610142.0004) [MOLECULAR BASIS]

T047