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Joubert syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0018772

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. [ Orphanet:475 ]

Synonyms: cerebelloparenchymal disorder IV pure Joubert syndrome Joubert-Boltshauser syndrome JBTS classic Joubert syndrome Joubert syndrome type A Joubert syndrome CPD IV

This is just here as a test because I lose it

Term information

database cross reference
  • NORD:1312 (MONDO:NORD)
  • MEDGEN:98464 (MONDO:equivalentTo)
  • Orphanet:475 (MONDO:equivalentTo)
  • SCTID:716997004 (MONDO:equivalentTo)
  • OMIMPS:213300 (MONDO:equivalentTo)
  • icd11.foundation:1414756318 (Orphanet:475)
  • GARD:6802 (MONDO:GARD)
  • DOID:0050777 (MONDO:equivalentTo)
  • UMLS:C0431399 (MONDO:equivalentTo)
  • NCIT:C74996 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare, clingen

abbreviation
JBTS [ DOID:0050777 ]

ClinGen label
Joubert syndrome

exactMatch

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

http://identifiers.org/snomedct/716997004

https://omim.org/phenotypicSeries/PS213300

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

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

http://identifiers.org/medgen/98464

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

excluded subClassOf

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

has related synonym

cerebellar vermis agenesis

id

MONDO:0018772

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml