Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

JOUBERT SYNDROME 1
Synonyms

CORS1
ID

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

CORS1

CEREBELLOPARENCHYMAL DISORDER IV

JBTS1

JOUBERT SYNDROME

CPD4

CEREBELLOOCULORENAL SYNDROME 1

JBTS

JOUBERT-BOLTSHAUSER SYNDROME
cui

C0431399

C4551568
Gene Locus

9q34.3
Gene Symbol

MORMS

CORS1

INPP5E

JBTS1
Has manifestation

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU001998

http://purl.bioontology.org/ontology/OMIM/MTHU002514

http://purl.bioontology.org/ontology/OMIM/MTHU020469

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

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU067545

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU037221

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

http://purl.bioontology.org/ontology/OMIM/MTHU067543

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

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

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

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

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

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

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

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

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

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU002507

http://purl.bioontology.org/ontology/OMIM/MTHU008900

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU067544
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

213300
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

JOUBERT SYNDROME 1
Scope Statement

Caused by mutation in the inositol polyphosphate-5-phosphatase, 72-kd gene (INPP5E, 613037.0002) [MOLECULAR BASIS]

Genetic heterogeneity [MISCELLANEOUS]

Variable phenotype [MISCELLANEOUS]
tui

T047
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