Online Mendelian Inheritance in Man

Last uploaded: August 27, 2019
Preferred Name

JOUBERT SYNDROME 1

Synonyms

JOUBERT SYNDROME

ID

http://purl.bioontology.org/ontology/OMIM/213300

altLabel

JOUBERT SYNDROME

JBTS

CPD4

JBTS1

CEREBELLOPARENCHYMAL DISORDER IV

CORS1

CEREBELLOOCULORENAL SYNDROME 1

JOUBERT-BOLTSHAUSER SYNDROME

cui

C0431399

C4551568

Gene Locus

9q34.3

Gene Symbol

JBTS1

MORMS

INPP5E

CORS1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000691

http://purl.bioontology.org/ontology/OMIM/MTHU002153

http://purl.bioontology.org/ontology/OMIM/MTHU002511

http://purl.bioontology.org/ontology/OMIM/MTHU058316

http://purl.bioontology.org/ontology/OMIM/MTHU058314

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

http://purl.bioontology.org/ontology/OMIM/MTHU014031

http://purl.bioontology.org/ontology/OMIM/MTHU058313

http://purl.bioontology.org/ontology/OMIM/MTHU014041

http://purl.bioontology.org/ontology/OMIM/MTHU000509

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

http://purl.bioontology.org/ontology/OMIM/MTHU041785

http://purl.bioontology.org/ontology/OMIM/MTHU001623

http://purl.bioontology.org/ontology/OMIM/MTHU004286

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

http://purl.bioontology.org/ontology/OMIM/MTHU014029

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU001096

http://purl.bioontology.org/ontology/OMIM/MTHU004614

http://purl.bioontology.org/ontology/OMIM/MTHU005348

http://purl.bioontology.org/ontology/OMIM/MTHU001995

http://purl.bioontology.org/ontology/OMIM/MTHU002002

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

http://purl.bioontology.org/ontology/OMIM/MTHU002502

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

http://purl.bioontology.org/ontology/OMIM/MTHU002510

http://purl.bioontology.org/ontology/OMIM/MTHU058315

http://purl.bioontology.org/ontology/OMIM/MTHU014039

http://purl.bioontology.org/ontology/OMIM/MTHU000554

http://purl.bioontology.org/ontology/OMIM/MTHU000619

http://purl.bioontology.org/ontology/OMIM/MTHU001833

http://purl.bioontology.org/ontology/OMIM/MTHU014034

http://purl.bioontology.org/ontology/OMIM/MTHU002512

http://purl.bioontology.org/ontology/OMIM/MTHU014032

http://purl.bioontology.org/ontology/OMIM/MTHU014037

http://purl.bioontology.org/ontology/OMIM/MTHU014030

http://purl.bioontology.org/ontology/OMIM/MTHU014036

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU014040

http://purl.bioontology.org/ontology/OMIM/MTHU007265

http://purl.bioontology.org/ontology/OMIM/MTHU001776

http://purl.bioontology.org/ontology/OMIM/MTHU040758

http://purl.bioontology.org/ontology/OMIM/MTHU001994

http://purl.bioontology.org/ontology/OMIM/MTHU000094

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

http://purl.bioontology.org/ontology/OMIM/MTHU014038

http://purl.bioontology.org/ontology/OMIM/MTHU002503

http://purl.bioontology.org/ontology/OMIM/MTHU002501

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

213300

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

JOUBERT SYNDROME 1

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/RCD/X77rY RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10078574 MEDDRA CUI
http://purl.obolibrary.org/obo/MONDO_0008944 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536293 RH-MESH LOOM
http://purl.bioontology.org/ontology/CSP/1254-7727 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/253175003 SNOMEDCT CUI
http://identifiers.org/omim/213300 RETO LOOM
http://identifiers.org/omim/213300 GEXO LOOM
http://identifiers.org/omim/213300 REXO LOOM
http://purl.bioontology.org/ontology/SCTSPA/716997004 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C536293 MESH CUI
http://purl.bioontology.org/ontology/MESH/C536293 MESH CUI
http://purl.bioontology.org/ontology/MESH/C536293 MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/716997004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10078574 MDRFRE CUI
http://purl.bioontology.org/ontology/CSP/0944-7801 CRISP CUI
http://purl.bioontology.org/ontology/SCTSPA/253175003 SCTSPA CUI
http://purl.obolibrary.org/obo/DOID_0110980 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0110980 NIFSTD LOOM