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Ontology Browser

Term:
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 (DOID:9004843)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1  
HGPPS is an autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth and childhood-onset progressive scoliosis. These features are associated with a developmental malformation of the brainstem including hypoplasia of the pons and cerebellar peduncles and defective decussation of certain neuronal systems. Cognitive function is normal. Familial horizontal gaze palsy with progressive scoliosis-1 (HGPPS1) is caused by homozygous or compound heterozygous mutation in the ROBO3 gene on chromosome 11q24. (OMIM)
Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2  

Synonyms
Exact Synonyms: HGPPS1
Primary IDs: OMIM:607313

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.