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horizontal gaze palsy with progressive scoliosis

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital autosomal recessive disease, presenting in children and adolescents, and characterized by progressive scoliosis along with the absence of conjugate horizontal eye movements and associated with failure of the somatosensory and corticospinal neuronal tracts to decussate in the medulla.
Mondo Term and Equivalent IDs
MONDO:0011810:  horizontal gaze palsy with progressive scoliosis
GARD:0012682: 
MESH:C564593: 
OMIMPS:607313: 
Orphanet:2744: 
SCTID:702381007: 
UMLS:C1846496: