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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. [ 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

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:243910 (Orphanet:2318/e)
  • MESH:C537430 (MONDO:equivalentTo)
  • GARD:9455 (Orphanet:2318)
  • SCTID:721862000 (MONDO:equivalentTo)
  • UMLS:C1855675 (Orphanet:2318)
  • Orphanet:2318 (OMIM:243910)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6745

https://github.com/monarch-initiative/mondo/issues/6744

https://github.com/monarch-initiative/mondo/issues/6878

exactMatch

http://www.orpha.net/ORDO/Orphanet_2318

https://omim.org/entry/243910

http://linkedlifedata.com/resource/umls/id/C1855675

http://identifiers.org/snomedct/721862000

http://identifiers.org/mesh/C537430

has related synonym

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

Joubert syndrome 5

coloboma, chorioretinal, with cerebellar vermis aplasia

cerebello-oculo-renal syndrome

id

MONDO:0009480

seeAlso

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