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Joubert syndrome with renal defect

Go to external page http://purl.obolibrary.org/obo/MONDO_0012308

A rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy. [ Orphanet:220497 ]

Synonyms: Joubert syndrome type 4 JS-R JBTS4

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C1846790 (MONDO:equivalentTo)
  • Orphanet:220497 (OMIM:609583)
  • icd11.foundation:1419767028 (MONDO:equivalentTo)
  • SCTID:716999001 (MONDO:equivalentTo)
  • MESH:C536296 (MONDO:equivalentTo)
  • GARD:10169 (MONDO:GARD)
  • DOID:0110999 (MONDO:equivalentTo)
  • MEDGEN:335526 (MONDO:equivalentTo)
  • OMIM:609583 (Orphanet:220497/e)
  • NCIT:C74997 (MONDO:equivalentTo)
Subsets

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

abbreviation
JBTS4 [ GARD:0010169 MONDO:Lexical DOID:0110999 https://omim.org/entry/609583 ]

abbreviation
JS-R [ Orphanet:220497 ]

exactMatch

http://purl.obolibrary.org/obo/DOID_0110999

http://www.orpha.net/ORDO/Orphanet_220497

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1419767028

https://omim.org/entry/609583

http://purl.obolibrary.org/obo/NCIT_C74997

http://identifiers.org/snomedct/716999001

http://identifiers.org/mesh/C536296

http://identifiers.org/medgen/335526

http://linkedlifedata.com/resource/umls/id/C1846790

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019741

http://purl.obolibrary.org/obo/MONDO_0020022

has related synonym

Joubert syndrome with renal anomalies

Joubert syndrome 4

id

MONDO:0012308

seeAlso

https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-anomalies