Drug Target Ontology

Last uploaded: February 15, 2018
Preferred Name

Joubert syndrome

Definitions

A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. Xref MGI.

ID

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

comment

Xref MGI.

created_by

lschriml

creation_date

2013-04-04T11:25:32Z

definition

A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

hasDbXref

OMIM:610688

OMIM:612291

OMIM:616654

OMIM:615636

OMIM:615665

OMIM:608629

OMIM:614424

OMIM:614465

OMIM:614173

OMIM:612285

OMIM:608091

OMIM:614815

OMIM:300804

OMIM:609583

ORDO:475

OMIM:614615

OMIM:213300

OMIM:610188

OMIM:611560

OMIM:614970

OMIM:614464

hasExactSynonym

JBTS

hasOBONamespace

disease_ontology

id

DOID:0050777

imported from

http://purl.obolibrary.org/obo/doid.owl

inSubset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

Joubert syndrome

prefixIRI

DOID:0050777

prefLabel

Joubert syndrome

subClassOf

http://purl.obolibrary.org/obo/DOID_0060340

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http://purl.bioontology.org/ontology/MEDDRA/10078574 MEDDRA LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Joubert_Syndrome CSEO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_1022 HRDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018772 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0050777 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050777 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050777 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050777 NIFSTD SAME_URI
http://purl.bioontology.org/ontology/SNOMEDCT/716997004 SNOMEDCT LOOM
http://www.gamuts.net/entity#Joubert_syndrome GAMUTS LOOM
http://purl.jp/bio/4/id/200906090111191439 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74996 NCIT LOOM
http://www.orpha.net/ORDO/Orphanet_475 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_475 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_475 ORDO LOOM