Orphanet Rare Disease Ontology

Last uploaded: December 4, 2019
Preferred Name

Joubert syndrome

Synonyms

Pure Joubert syndrome

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

alternative_term

Pure Joubert syndrome

Joubert syndrome type A

Classic Joubert syndrome

Cerebelloparenchymal disorder IV

Joubert-Boltshauser syndrome

CPD IV

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

hasDbXref

OMIM:610688

OMIM:612291

OMIM:618161

OMIM:616654

OMIM:615636

OMIM:617761

OMIM:614424

OMIM:616781

OMIM:617622

ICD-10:Q04.3

OMIM:617121

OMIM:614173

OMIM:614615

OMIM:213300

OMIM:614970

OMIM:616490

OMIM:617120

OMIM:614464

OMIM:616784

label

Joubert syndrome

notation

ORPHA:475

part_of

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

http://www.orpha.net/ORDO/Orphanet_269560

http://www.orpha.net/ORDO/Orphanet_98514

prefLabel

Joubert syndrome

treeView

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

http://www.orpha.net/ORDO/Orphanet_269560

http://www.orpha.net/ORDO/Orphanet_98514

subClassOf

http://www.orpha.net/ORDO/Orphanet_377789

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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 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 REST
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://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 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_475 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_475 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_475 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_475 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_475 EFO SAME_URI
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 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_475 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_475 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_475 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_475 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_475 EFO SAME_URI
http://www.orpha.net/ORDO/Orphanet_475 HOOM SAME_URI
http://www.orpha.net/ORDO/Orphanet_475 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_475 EFO SAME_URI
http://sbmi.uth.tmc.edu/ontology/ochv#C0431399 OCHV LOOM