Mondo Disease Ontology

Last uploaded: June 6, 2019
Preferred Name

Joubert syndrome 1

Synonyms

cerebellooculorenal syndrome 1

Joubert syndrome 1; JBTS1

Joubert syndrome type 1

JBTS1

INPP5E Joubert syndrome

Joubert syndrome

Cerebellooculorenal syndrome 1

cerebelloparenchymal disorder 4

CPD4

Joubert syndrome 1

Joubert-Boltshauser syndrome

Joubert syndrome caused by mutation in INPP5E

cerebelloparenchymal disorder IV

CORS1

Definitions

Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.

ID

http://purl.obolibrary.org/obo/MONDO_0008944

closeMatch

http://linkedlifedata.com/resource/umls/id/C0431399

database_cross_reference

DOID:0110980

OMIM:213300

UMLS:CN119531

definition

Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.

exactMatch

http://identifiers.org/omim/213300

http://linkedlifedata.com/resource/umls/id/CN119531

http://purl.obolibrary.org/obo/DOID_0110980

has_exact_synonym

cerebellooculorenal syndrome 1

Joubert syndrome type 1

JBTS1

INPP5E Joubert syndrome

CPD4

Joubert syndrome 1

Joubert syndrome caused by mutation in INPP5E

cerebelloparenchymal disorder IV

CORS1

has_related_synonym

Joubert syndrome 1; JBTS1

Joubert syndrome

Cerebellooculorenal syndrome 1

cerebelloparenchymal disorder 4

Joubert-Boltshauser syndrome

id

MONDO:0008944

label

Joubert syndrome 1

notation

MONDO:0008944

prefLabel

Joubert syndrome 1

treeView

http://purl.obolibrary.org/obo/MONDO_0018772

subClassOf

http://purl.obolibrary.org/obo/MONDO_0018772

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Delete Mapping To Ontology Source
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536293 RH-MESH LOOM
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/OMIM/213300 OMIM LOOM
http://purl.obolibrary.org/obo/DOID_0110980 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0110980 NIFSTD LOOM