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Joubert syndrome

^ 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 ]

Term info

database cross reference
  • OMIMPS:213300 (MONDO:equivalentTo)
  • DOID:0050777 (MONDO:equivalentTo)
  • NCIT:C74996 (MONDO:equivalentTo)
  • SCTID:716997004 (MONDO:equivalentTo)
  • Orphanet:475 (MONDO:equivalentTo)
  • GARD:0006802 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
JBTS [ DOID:0050777 ]

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.

exactMatch

http://identifiers.org/snomedct/716997004, https://omim.org/phenotypicSeries/PS213300, http://purl.obolibrary.org/obo/Orphanet_475, http://purl.obolibrary.org/obo/DOID_0050777, http://purl.obolibrary.org/obo/NCIT_C74996

has exact synonym

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

has related synonym

cerebellar vermis agenesis

id

MONDO:0018772