Terminology Service for NFDI4Health
Joubert syndrome with renal defect
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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. [ ]
Term info
Label
Joubert syndrome with renal defect
Synonyms
- JBTS4
- JS-R
- Joubert syndrome type 4
Subsets
gard_rare, ordo_disease
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 related synonym
Joubert syndrome with renal anomalies, Joubert syndrome 4
id
MONDO:0012308
narrowMatch
https://icd.codes/icd10cm/Q04.3, https://icd.codes/icd10cm/Q61.5
see also
https://rarediseases.info.nih.gov/diseases/10169/joubert-syndrome-with-renal-anomalies