Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: TMEM237 Joubert syndrome Joubert syndrome 14 Joubert syndrome type 14 JBTS14 Joubert syndrome caused by mutation in TMEM237
Term information
- UMLS:C3280766 (MONDO:equivalentTo)
- DOID:0110983 (MONDO:equivalentTo)
- GARD:15801 (MONDO:GARD)
- OMIM:614424 (MONDO:equivalentTo)
- MEDGEN:482396 (MONDO:equivalentTo)
gard_rare, rare, nord_rare, clingen
http://linkedlifedata.com/resource/umls/id/C3280766
http://identifiers.org/medgen/482396
http://purl.obolibrary.org/obo/DOID_0110983
https://omim.org/entry/614424