Mondo Disease Ontology

Last uploaded: June 6, 2019
Preferred Name

Joubert syndrome

Synonyms

JBTS

pure Joubert syndrome

Joubert syndrome type A

cerebellar vermis agenesis

classic Joubert syndrome

Joubert-Boltshauser syndrome

cerebelloparenchymal disorder IV

CPD IV

Definitions

Joubert syndrome (JS) 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/MONDO_0018772

closeMatch

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

database_cross_reference

GARD:0006802

Orphanet:475

SCTID:716997004

ICD10:Q04.3

DOID:0050777

NCIT:C74996

OMIMPS:213300

definition

Joubert syndrome (JS) 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.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C74996

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

http://purl.obolibrary.org/obo/Orphanet_475

http://identifiers.org/snomedct/716997004

has_exact_synonym

JBTS

pure Joubert syndrome

Joubert syndrome type A

classic Joubert syndrome

Joubert-Boltshauser syndrome

cerebelloparenchymal disorder IV

CPD IV

has_related_synonym

cerebellar vermis agenesis

id

MONDO:0018772

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disease

label

Joubert syndrome

notation

MONDO:0018772

prefLabel

Joubert syndrome

treeView

http://purl.obolibrary.org/obo/MONDO_0020130

http://purl.obolibrary.org/obo/MONDO_0015369

http://purl.obolibrary.org/obo/MONDO_0005308

subClassOf

http://purl.obolibrary.org/obo/MONDO_0020130

http://purl.obolibrary.org/obo/MONDO_0015369

http://purl.obolibrary.org/obo/MONDO_0005308

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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/DOID_0050777 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050777 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050777 NIFSTD LOOM
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