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Joubert syndrome with renal defect

^ 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 ]

Term info

database cross reference
  • GARD:0010169 (MONDO:equivalentTo)
  • MESH:C536296 (MONDO:equivalentTo)
  • SCTID:716999001 (MONDO:equivalentTo)
  • DOID:0110999 (MONDO:equivalentTo)
  • Orphanet:220497 (OMIM:609583)
  • NCIT:C74997 (MONDO:equivalentTo)
  • OMIM:609583 (Orphanet:220497/e)
Subsets

gard_rare, ordo_disease

abbreviation
JBTS4 [ DOID:0110999 OMIM:609583 GARD:0010169 MONDO:Lexical ]

definition

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.

exactMatch

http://purl.obolibrary.org/obo/DOID_0110999, https://omim.org/entry/609583, http://purl.obolibrary.org/obo/NCIT_C74997, http://purl.obolibrary.org/obo/Orphanet_220497, http://identifiers.org/snomedct/716999001, http://identifiers.org/mesh/C536296

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019741, http://purl.obolibrary.org/obo/MONDO_0020022

has exact synonym

Joubert syndrome type 4, JS-R, JBTS4

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