Human Disease Ontology

Last uploaded: March 2, 2018
Preferred Name

Joubert syndrome 1

Synonyms

cerebellooculorenal syndrome 1

JBTS1

CPD4

cerebelloparenchymal disorder IV

CORS1

Definitions

A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.

ID

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

definition

A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.

has_obo_namespace

disease_ontology

hasDbXref

OMIM:213300

hasExactSynonym

cerebellooculorenal syndrome 1

JBTS1

CPD4

cerebelloparenchymal disorder IV

CORS1

id

DOID:0110980

label

Joubert syndrome 1

notation

DOID:0110980

prefLabel

Joubert syndrome 1

treeView

http://purl.obolibrary.org/obo/DOID_0050777

subClassOf

http://purl.obolibrary.org/obo/DOID_0050777

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0008944 MONDO LOOM
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 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0110980 NIFSTD SAME_URI