Preferred Name

Joubert syndrome

Synonyms

Pure Joubert syndrome

ID

http://www.limics.org/hrdo/rdfns#pat_id_1022

ageOfOnset

Neonatal/infancy

Neonatal/infancy

Neonatale/prima infanzia

Neonatal/infância

Néonatal/petite enfance

Neonatal / infancia

Neonatal/Kleinkindalter

altLabel

Pure Joubert syndrome

Doença cerebeloparenquimatosa IV (CPD IV)

Syndrome de Joubert-Boltshauser

Síndrome de Joubert puro

Syndrome de Joubert classique

Disturbo cerebelloparenchimale IV

Síndrome de Joubert-Boltshauser

CPD IV

Joubert syndrome type A

Zerebello-parenchymale Krankheit IV

CPD IV

Sindrome di Joubert pura

Joubert-Boltshauser-Syndrom

Klassisches Joubert-Syndrom (JS)

Classic Joubert syndrome

Cerebelloparenchymal disorder IV

CPD IV

Syndrome de Joubert type A

Joubert-Syndrom Typ A

Joubert-Boltshauser syndrome

Sindrome di Joubert classica

Agenesia do vermis cerebeloso

CPD IV

Syndrome de Joubert pur

Cerebeloparenquimatosa IV, doença (CPD IV)

Sindrome di Joubert, tipo A

Sindrome di Joubert-Boltshauser

Joubert-Syndrom, reines

Síndrome de Joubert clásico

id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=joubert+boltshauser%5Btw%5D+OR+joubert+synd*%5Btw%5D+OR+%28cerebell*%5Bti%5D+vermis%5Bti%5D+agenesis%5Bti%5D%29

id_MIM

612291

614970

614424

614615

614173

213300

610688

614464

id_OMS

Q04.3

id_Orpha

475

inheritance

Autosómico recesivo

Autosomique récessif

Autosomica recessiva

Autosomal recessive

Autosomal-rezessiv

Autosomal recessive

Autossómica recessiva

patType

disease

prefixIRI

hrdo:pat_id_1022

prefLabel

Joubert-Syndrom

Sindrome di Joubert

Syndrome de Joubert

Síndrome de Joubert

Síndrome de Joubert

Joubert syndrome

prevalence

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

1-9 / 100 000

subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11

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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://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 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_475 ORDO LOOM