disease has feature
disease has major feature
Strabismus
syndromic disease
obsolete neuro-ophthalmological disease
Joubert syndrome and related disorders
Joubert syndrome with ocular defect
https://github.com/monarch-initiative/mondo/issues/6744
https://github.com/monarch-initiative/mondo/issues/6745
https://github.com/monarch-initiative/mondo/issues/6878
https://rarediseases.info.nih.gov/diseases/10168/joubert-syndrome-with-ocular-anomalies
MONDO:0016364
JBTS3
Orphanet:220493
JS-O
Joubert syndrome 3
SCTID:716998009
GARD:10168
Joubert syndrome with ocular anomalies
ICD10CM:H35.5
UMLS:C4274118
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.
Joubert syndrome with retinopathy
central nervous system malformation
disorder of visual system