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Joubert syndrome with ocular defect

Go to external page 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 ]

Synonyms: JS-O Joubert syndrome with retinopathy

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C4274118 (MONDO:equivalentTo)
  • GARD:10168 (Orphanet:220493)
  • Orphanet:220493 (MONDO:equivalentTo)
  • ICD10CM:H35.5 (Orphanet:220493/ntbt)
  • SCTID:716998009 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6745

https://github.com/monarch-initiative/mondo/issues/6744

https://github.com/monarch-initiative/mondo/issues/6878

exactMatch

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

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

http://identifiers.org/snomedct/716998009

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015368

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