Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015
Jump to:
Spinner 000000 16px loading...
Preferred Name

Joubert syndrome 1
Synonyms

JBTS1
Definitions

(JBTS1) - A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia|aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
ID

http://identifiers.org/omim/213300
altLabel

JBTS1
definition

(JBTS1) - A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia|aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
id

OMIM:213300
notation

OMIM:213300
prefLabel

Joubert syndrome 1
subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0008944 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C536293 RH-MESH LOOM
http://identifiers.org/omim/213300 RETO LOOM
http://identifiers.org/omim/213300 RETO SAME_URI
http://identifiers.org/omim/213300 GEXO LOOM
http://identifiers.org/omim/213300 GEXO SAME_URI
http://purl.bioontology.org/ontology/OMIM/213300 OMIM LOOM
http://purl.obolibrary.org/obo/DOID_0110980 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0110980 NIFSTD LOOM