Cell Culture Ontology

Last uploaded: July 23, 2014
Preferred Name

obsolete_Joubert syndrome
Synonyms

Classic Joubert syndrome

Joubert syndrome type A

Cerebelloparenchymal disorder IV

Joubert-Boltshauser syndrome

Pure Joubert syndrome

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

Obsolete

true

database_cross_reference

OMIM:615636

OMIM:618161

OMIM:614424

OMIM:213300

OMIM:617622

OMIM:614175

OMIM:614173

OMIM:616784

OMIM:616781

OMIM:612291

OMIM:616654

OMIM:614615

OMIM:614464

OMIM:610688

OMIM:617120

MedDRA:10078574

OMIM:617757

OMIM:617767

OMIM:617761

OMIM:614970

ICD10:Q04.3

OMIM:616490

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

deprecated

true

has_exact_synonym

Classic Joubert syndrome

Joubert syndrome type A

Cerebelloparenchymal disorder IV

Joubert-Boltshauser syndrome

Pure Joubert syndrome

CPD IV

label

obsolete_Joubert syndrome

obsoleted_in_version

3.41.0

preferred label

obsolete_Joubert syndrome

prefLabel

obsolete_Joubert syndrome

reason_for_obsolescence

Replaced with Mondo term.

term replaced by

http://purl.obolibrary.org/obo/MONDO_0018772

subClassOf

http://www.w3.org/2002/07/owl#Thing

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