Preferred Name

Joubert syndrome

Synonyms

JBTS

Definitions

Xref MGI. 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.

ID

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

comment

Xref MGI.

created_by

lschriml

creation_date

2013-04-04T11:25:32Z

database_cross_reference

OMIM:PS213300

GARD:6802

ORDO:475

ICD10CM:Q04.3

has_exact_synonym

JBTS

has_obo_namespace

disease_ontology

id

DOID:0050777

in_subset

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

label

Joubert syndrome

located in

http://purl.obolibrary.org/obo/UBERON_0000955

notation

DOID:0050777

prefLabel

Joubert syndrome

textual 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.

subClassOf

http://purl.obolibrary.org/obo/DOID_936

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

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Delete Mapping To Ontology Source
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/MONDO_0018772 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0050777 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050777 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050777 MONDO SAME_URI
http://purl.obolibrary.org/obo/DOID_0050777 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050777 DOID SAME_URI
http://purl.bioontology.org/ontology/SNOMEDCT/716997004 SNOMEDCT LOOM
http://purl.jp/bio/4/id/200906090111191439 IOBC LOOM
http://purl.jp/bio/4/id/200906090111191439 IOBC LOOM
http://purl.jp/bio/4/id/200906090111191439 IOBC LOOM
http://purl.jp/bio/4/id/200906090111191439 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74996 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74996 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74996 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74996 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74996 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C74996 NCIT LOOM
http://www.orpha.net/ORDO/Orphanet_475 ORDO LOOM
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http://www.orpha.net/ORDO/Orphanet_475 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_475 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_475 HORD LOOM
http://www.orpha.net/ORDO/Orphanet_475 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_475 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_475 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_475 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_475 EFO LOOM