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Joubert syndrome with ocular defect

^ 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. [ Orphanet:220493 ]

Term info

database cross reference
  • UMLS:C4274118 (MONDO:equivalentTo)
  • ICD10CM:H35.5 (Orphanet:220493/ntbt)
  • SCTID:716998009 (MONDO:equivalentTo)
  • UMLS:CN201217 (MONDO:equivalentTo)
  • Orphanet:220493 (MONDO:equivalentTo)
  • GARD:0010168 (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://purl.obolibrary.org/obo/Orphanet_220493, http://linkedlifedata.com/resource/umls/id/C4274118, 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