Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015
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

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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