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Joubert syndrome 1

^ http://purl.obolibrary.org/obo/MONDO_0008944

Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

database cross reference
  • OMIM:213300 (MONDO:equivalentTo)
  • DOID:0110980 (MONDO:equivalentTo)
  • UMLS:CN119531 (MONDO:ncbi_mim2gene_medline)
abbreviation
CPD4 [ DOID:0110980 ]

abbreviation
CORS1 [ DOID:0110980 ]

abbreviation
JBTS1 [ OMIM:213300 DOID:0110980 MONDO:Lexical ]

definition

Any Joubert syndrome in which the cause of the disease is a mutation in the INPP5E gene.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN119531, http://purl.obolibrary.org/obo/DOID_0110980, https://omim.org/entry/213300

has exact synonym

CORS1, Joubert syndrome caused by mutation in INPP5E, CPD4, Joubert syndrome 1, INPP5E Joubert syndrome, Joubert syndrome type 1, JBTS1, cerebellooculorenal syndrome 1

has related synonym

Joubert-Boltshauser syndrome, Joubert syndrome, cerebelloparenchymal disorder 4, Cerebellooculorenal syndrome 1

id

MONDO:0008944

Term relations

Subclass of: