Cell Culture Ontology

Last uploaded: July 23, 2014

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

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_140874	EFO	SAME_URI
http://www.orpha.net/ORDO/Orphanet_140874	ORDO	SAME_URI
http://www.orpha.net/ORDO/Orphanet_140874	EFO	LOOM