Terminology Service for NFDI4Health
Joubert syndrome with ocular defect
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http://purl.obolibrary.org/obo/MONDO_0016364
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with retinal dystrophy. [ ]
Term info
Label
Joubert syndrome with ocular defect
Synonyms
- JS-O
- Joubert syndrome with retinopathy
Subsets
gard_rare, ordo_disease
exactMatch
http://purl.obolibrary.org/obo/Orphanet_220493, http://linkedlifedata.com/resource/umls/id/C4274118, http://linkedlifedata.com/resource/umls/id/CN201217, http://identifiers.org/snomedct/716998009
has related synonym
Joubert syndrome 3, JBTS3, Joubert syndrome with ocular anomalies
id
MONDO:0016364
narrowMatch
https://icd.codes/icd10cm/Q04.3
see also
https://rarediseases.info.nih.gov/diseases/10168/joubert-syndrome-with-ocular-anomalies