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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 Dekaban-Arima syndrome 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)
  • MEDGEN:340930 (MONDO:equivalentTo)
  • NANDO:1200662 (https://orcid.org/0000-0003-0011-764X)
  • MESH:C537430 (MONDO:equivalentTo)
  • GARD:9455 (MONDO:GARD)
  • Orphanet:2318 (OMIM:243910)
  • icd11.foundation:397835469 (MONDO:equivalentTo)
  • SCTID:721862000 (MONDO:equivalentTo)
  • UMLS:C1855675 (MONDO:equivalentTo)
Subsets

gard_rare, matrix_llm__is_cancer_other, ordo_disorder, mondo_top_grouping_disorder_of_visual_system, mondo_top_grouping_member, matrix_llm__txgnn_other, nord_rare, matrix_included, rare, orphanet_rare, mondo_top_grouping_syndromic_disease, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, harrisons_view_disorder_of_visual_system, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis

abbreviation
CORS [ Orphanet:2318 ]

abbreviation
JS-OR [ GARD:0009455 Orphanet:2318 ]

exactMatch

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

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/397835469

has related synonym

Joubert syndrome with bilateral chorioretinal coloboma

Joubert syndrome with oculorenal anomalies

Dekaban Arima syndrome

cerebro-oculo-hepato-renal 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

term tracker item

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

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

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