Experimental Factor Ontology

Last uploaded: September 16, 2019
Preferred Name

Joubert syndrome

Synonyms

JBTS

pure Joubert syndrome

Pure Joubert syndrome

Cerebelloparenchymal disorder IV

Classic Joubert syndrome

Joubert syndrome type A

cerebellar vermis agenesis

classic Joubert syndrome

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://www.orpha.net/ORDO/Orphanet_475

closeMatch

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

database_cross_reference

MONDO:0018772

OMIM:610688

OMIM:612291

OMIM:617757

OMIM:616654

OMIM:615636

OMIM:617761

GARD:0006802

OMIM:614424

OMIM:616781

OMIM:617622

OMIM:617767

OMIM:614173

OMIM:614175

OMIM:614615

OMIM:213300

OMIM:614970

OMIM:616490

SCTID:716997004

ICD10:Q04.3

OMIM:617120

OMIM:614464

DOID:0050777

NCIT:C74996

OMIMPS:213300

OMIM:616784

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.

definition_citation

orphanet

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

Pure Joubert syndrome

Cerebelloparenchymal disorder IV

Classic Joubert syndrome

Joubert syndrome type A

classic Joubert syndrome

Joubert syndrome

Joubert-Boltshauser syndrome

cerebelloparenchymal disorder IV

CPD IV

has_related_synonym

cerebellar vermis agenesis

id

Orphanet:475

in_subset

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

label

Joubert syndrome

notation

Orphanet:475

prefLabel

Joubert syndrome

subClassOf

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

http://www.ebi.ac.uk/efo/EFO_0003900

http://www.orpha.net/ORDO/Orphanet_140874

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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/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 CCONT SAME_URI
http://www.orpha.net/ORDO/Orphanet_475 HOOM SAME_URI
http://www.orpha.net/ORDO/Orphanet_475 ORDO LOOM
http://www.orpha.net/ORDO/Orphanet_475 ORDO SAME_URI