Experimental Factor Ontology

Last uploaded: March 18, 2024
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

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
Create mapping

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