Mondo Disease Ontology

Last uploaded: June 6, 2019
Preferred Name

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

database_cross_reference

UMLS:CN199461

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

JSRD

id

MONDO:0015369

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders

label

Joubert syndrome and related disorders

notation

MONDO:0015369

prefLabel

Joubert syndrome and related disorders

treeView

http://purl.obolibrary.org/obo/MONDO_0020043

subClassOf

http://purl.obolibrary.org/obo/MONDO_0020043

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Delete Mapping To Ontology Source
http://www.limics.org/hrdo/rdfns#pat_id_16992 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_140874 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_140874 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_140874 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_140874 ORDO LOOM