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Joubert syndrome

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


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.

Synonyms: Joubert-Boltshauser syndrome, Pure Joubert syndrome, Joubert syndrome type A, Classic Joubert syndrome, Cerebelloparenchymal disorder IV, CPD IV

Term info

database cross reference
  • OMIM:213300 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:614464 (BTNT (broader term maps to a narrower term))
  • OMIM:617120 (BTNT (broader term maps to a narrower term))
  • OMIM:614970 (BTNT (broader term maps to a narrower term))
  • OMIM:616654 (BTNT (broader term maps to a narrower term))
  • OMIM:615636 (BTNT (broader term maps to a narrower term))
  • OMIM:614173 (BTNT (broader term maps to a narrower term))
  • OMIM:614615 (BTNT (broader term maps to a narrower term))
  • OMIM:616784 (BTNT (broader term maps to a narrower term))
  • OMIM:617121 (BTNT (broader term maps to a narrower term))
  • OMIM:617622 (BTNT (broader term maps to a narrower term))
  • OMIM:616490 (BTNT (broader term maps to a narrower term))
  • OMIM:617761 (BTNT (broader term maps to a narrower term))
  • OMIM:612291 (BTNT (broader term maps to a narrower term))
  • ICD-10:Q04.3 (NTBT (narrower term maps to a broader term))
  • OMIM:610688 (BTNT (broader term maps to a narrower term))
  • OMIM:614424 (BTNT (broader term maps to a narrower term))
  • ICD-10:Q04.3 (Attributed)
  • OMIM:616781 (BTNT (broader term maps to a narrower term))
hasDbXref

OMIM:617120, OMIM:612291, OMIM:616490, OMIM:617761, OMIM:616781, OMIM:614173, OMIM:617121, OMIM:616654, OMIM:617622, OMIM:614970, OMIM:616784, OMIM:614464, ICD-10:Q04.3, OMIM:615636, OMIM:614424, OMIM:213300, OMIM:610688, OMIM:614615

notation

ORPHA:475