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Joubert Syndrome With Oculorenal Defect (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.

Overview

Category

syndromic disease

nervous system disorder

disorder of visual system

Ontology ID

MONDO:0009480

Internal:10706

Synonyms

Arima syndrome

CORS

Cerebellooculorenal syndrome

Dekaban-Arima syndrome

JS type B

JS-OR

Joubert syndrome with Senior-Loken syndrome

Joubert syndrome with oculorenal defect

Dekaban Arima syndrome

Joubert syndrome 5

Joubert syndrome with bilateral chorioretinal coloboma

Joubert syndrome with oculorenal anomalies

cerebello-oculo-renal syndrome

cerebro-oculo-hepato-renal syndrome

cerebrooculohepatorenal syndrome

chorioretinal coloboma with cerebellar vermis aplasia

coloboma, chorioretinal, with cerebellar vermis aplasia

Mapped terms

GARD:0009455

MEDGEN:340930

MESH:C537430

NANDO:1200662

OMIM:243910

Orphanet:2318

SCTID:721862000

UMLS:C1855675

icd11.foundation:397835469

Child terms

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