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Joubert syndrome and related disorders

^ http://purl.obolibrary.org/obo/MONDO_0015369

Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa. [ Orphanet:140874 ]

Term info

database cross reference
  • Orphanet:140874 (MONDO:equivalentTo)
  • UMLS:CN199461 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
JSRD [ Orphanet:140874 ]

definition

Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the "molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN199461, http://purl.obolibrary.org/obo/Orphanet_140874

has exact synonym

Joubert syndrome and related disorders, JSRD

id

MONDO:0015369