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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. [ ]

Term info

Label

Joubert syndrome with oculorenal defect

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
database cross reference
Subsets

gard_rare, ordo_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 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

narrowMatch

https://icd.codes/icd10cm/Q04.3

see also

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