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Joubert syndrome with oculorenal defect

^ 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 ]

Term info

database cross reference
  • MESH:C537430 (MONDO:equivalentTo)
  • GARD:0009455 (MONDO:equivalentTo)
  • UMLS:C1855675 (Orphanet:2318)
  • OMIM:243910 (Orphanet:2318/e)
  • Orphanet:2318 (OMIM:243910)
  • SCTID:721862000 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
CORS [ Orphanet:2318 ]

definition

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.

exactMatch

https://omim.org/entry/243910, http://linkedlifedata.com/resource/umls/id/C1855675, http://purl.obolibrary.org/obo/Orphanet_2318, http://identifiers.org/snomedct/721862000, http://identifiers.org/mesh/C537430

has exact synonym

Cerebellooculorenal syndrome, CORS, JS type B, Dekaban-Arima syndrome, Arima syndrome, Joubert syndrome with Senior-Loken syndrome, Joubert syndrome with oculorenal defect, JS-OR

has related synonym

Joubert syndrome with oculorenal anomalies, Joubert syndrome with bilateral chorioretinal coloboma, 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

id

MONDO:0009480

seeAlso

https://rarediseases.info.nih.gov/diseases/9455/joubert-syndrome-with-oculorenal-anomalies