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COACH syndrome 1

Disease Summary
Associated Targets (4)
Tbio

4


GARD Rare
Mondo Description A very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
Mondo Term and Equivalent IDs
MONDO:0008996:  COACH syndrome 1
DOID:0111589: 
GARD:0001410: 
MESH:C536430: 
Orphanet:1454: 
SCTID:721847002: 
UMLS:C1857662: