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. [ Orphanet:220493 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:CN201217 (MONDO:equivalentTo)
  • GARD:0010168 (MONDO:equivalentTo)
  • ICD10:H35.5 (Orphanet:220493)
  • Orphanet:220493 (MONDO:equivalentTo)
  • UMLS:C4274118 (MONDO:equivalentTo)
  • ICD10:Q04.3 (Orphanet:220493)
  • SCTID:716998009 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
JBTS3 [ GARD:0010168 ]

definition

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.

exactMatch

http://linkedlifedata.com/resource/umls/id/CN201217

http://linkedlifedata.com/resource/umls/id/C4274118

http://www.orpha.net/ORDO/Orphanet_220493

http://identifiers.org/snomedct/716998009

has exact synonym

JS-O

Joubert syndrome with retinopathy

has related synonym

Joubert syndrome 3

Joubert syndrome with ocular anomalies

JBTS3

id

MONDO:0016364

seeAlso

https://rarediseases.info.nih.gov/diseases/10168/joubert-syndrome-with-ocular-anomalies