Joubert syndrome with oculorenal defect
Go to external page http://purl.obolibrary.org/obo/MONDO_0009480
Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with both renal and ocular disease. [ Orphanet:2318 ]
Synonyms: Cerebellooculorenal syndrome CORS JS type B Arima syndrome Dekaban-Arima syndrome Joubert syndrome with Senior-Loken syndrome JS-OR Joubert syndrome with oculorenal defect
Term information
- UMLS:C1855675 (MONDO:equivalentTo)
- MESH:C537430 (MONDO:equivalentTo)
- MEDGEN:340930 (MONDO:equivalentTo)
- NANDO:1200662 (https://orcid.org/0000-0003-0011-764X)
- OMIM:243910 (Orphanet:2318/e)
- GARD:9455 (MONDO:GARD)
- SCTID:721862000 (MONDO:equivalentTo)
- Orphanet:2318 (OMIM:243910)
gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare
https://github.com/monarch-initiative/mondo/issues/6745
https://github.com/monarch-initiative/mondo/issues/6744
https://github.com/monarch-initiative/mondo/issues/6878
http://identifiers.org/medgen/340930
http://www.orpha.net/ORDO/Orphanet_2318
https://omim.org/entry/243910
http://identifiers.org/snomedct/721862000
http://linkedlifedata.com/resource/umls/id/C1855675
http://identifiers.org/mesh/C537430
Joubert syndrome with bilateral chorioretinal coloboma
Joubert syndrome with oculorenal anomalies
cerebro-oculo-hepato-renal syndrome
Dekaban Arima syndrome
cerebrooculohepatorenal syndrome
chorioretinal coloboma with cerebellar vermis aplasia
coloboma, chorioretinal, with cerebellar vermis aplasia
Joubert syndrome 5
cerebello-oculo-renal syndrome