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Ontology Browser

Term:
ataxia with oculomotor apraxia type 1 (DOID:0050754)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (3) Pig: (3)
Parent Terms Term With Siblings Child Terms
apraxia +     
Hypoalbuminemia +     
Alien Hand Syndrome 
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia  
Analbuminemia  
ataxia telangiectasia +   
ataxia with oculomotor apraxia type 1  
An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene. (DO)
ataxia with oculomotor apraxia type 2  
ataxia with oculomotor apraxia type 3  
Ataxia-Oculomotor Apraxia 4  
autosomal recessive spinocerebellar ataxia 10  
autosomal recessive spinocerebellar ataxia 11  
autosomal recessive spinocerebellar ataxia 12  
autosomal recessive spinocerebellar ataxia 13  
autosomal recessive spinocerebellar ataxia 14  
autosomal recessive spinocerebellar ataxia 15  
autosomal recessive spinocerebellar ataxia 16  
autosomal recessive spinocerebellar ataxia 17  
autosomal recessive spinocerebellar ataxia 18  
autosomal recessive spinocerebellar ataxia 19  
autosomal recessive spinocerebellar ataxia 2  
autosomal recessive spinocerebellar ataxia 20  
autosomal recessive spinocerebellar ataxia 21  
autosomal recessive spinocerebellar ataxia 22  
autosomal recessive spinocerebellar ataxia 23  
autosomal recessive spinocerebellar ataxia 24  
autosomal recessive spinocerebellar ataxia 25  
autosomal recessive spinocerebellar ataxia 26  
autosomal recessive spinocerebellar ataxia 27  
Autosomal Recessive Spinocerebellar Ataxia 28  
autosomal recessive spinocerebellar ataxia 3 
autosomal recessive spinocerebellar ataxia 4  
autosomal recessive spinocerebellar ataxia 6 
autosomal recessive spinocerebellar ataxia 7  
autosomal recessive spinocerebellar ataxia 8  
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy +   
Cayman type cerebellar ataxia  
cerebellar ataxia, mental retardation and dysequlibrium syndrome +   
Charlevoix-Saguenay spastic ataxia  
Friedreich ataxia +   
gait apraxia 
ideomotor apraxia 
Marinesco-Sjogren syndrome  
Miles-Carpenter syndrome +   
mitochondrial DNA depletion syndrome 7  
ocular motor apraxia, Cogan type  
primary coenzyme Q10 deficiency 4  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Specific Language Impairment 4 
speech-language disorder-1  

Synonyms
Exact Synonyms: AOA ;   AOA1 ;   Ataxia-oculomotor apraxia 1 ;   Ataxia-oculomotor apraxia syndrome ;   Ataxia-telangiectasia-like syndrome ;   EAOH ;   Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia ;   Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia ;   adult-onset ataxia with oculomotor apraxia
Narrow Synonyms: CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA ;   EOCA-HA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA
Primary IDs: MESH:C538013
Alternate IDs: OMIM:208920
Xrefs: GARD:9283
Definition Sources: https://rarediseases.info.nih.gov/diseases/9283/ataxia-oculomotor-apraxia-type-1 "DO"

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