Experimental Factor Ontology

Last uploaded: November 18, 2024
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Preferred Name

obsolete_Joubert syndrome and related disorders
Synonyms

JSRD
Definitions

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.
ID

http://www.orpha.net/ORDO/Orphanet_140874
Obsolete

true
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.
definition_citation

orphanet
deprecated

true
has_exact_synonym

JSRD
label

obsolete_Joubert syndrome and related disorders
obsoleted_in_version

3.41.0
preferred label

obsolete_Joubert syndrome and related disorders
prefLabel

obsolete_Joubert syndrome and related disorders
reason_for_obsolescence

Replaced with Mondo term.
term replaced by

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

http://www.w3.org/2002/07/owl#Thing
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