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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
achromatopsia 4  
Achromatopsia 5  
Acrootoocular Syndrome 
Aicardi syndrome  
Alacrima +   
Albinism +   
Alien Hand Syndrome 
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia  
aniridia +   
ataxia telangiectasia +   
Ataxia Telangiectasia Like Disorder +   
ataxia with oculomotor apraxia type 1  
ataxia with oculomotor apraxia type 3  
An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13. (DO)
Ataxia-Microcephaly-Cataract Syndrome 
ataxia-oculomotor apraxia type 4  
Ataxia-Telangiectasia Variant  
Ataxia-Telangiectasia Variant V2 
Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death 
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 29  
autosomal recessive spinocerebellar ataxia 3 
autosomal recessive spinocerebellar ataxia 30  
autosomal recessive spinocerebellar ataxia 31  
autosomal recessive spinocerebellar ataxia 32  
autosomal recessive spinocerebellar ataxia 33  
autosomal recessive spinocerebellar ataxia 34  
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 +   
basal laminar drusen  
bestrophinopathy  
Bothnia retinal dystrophy  
bradyopsia +   
cataract 17 multiple types  
cataract 22 multiple types  
cataract 35  
Cataract, Pulverulent 
Cavitary Optic Disc Anomalies  
Cayman type cerebellar ataxia  
cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome +   
Charlevoix-Saguenay spastic ataxia  
Cholestasis with Gallstone, Ataxia, and Visual Disturbance 
Choroideremia +   
cone-rod dystrophy +   
Congenital Alacrima +   
congenital fibrosis of the extraocular muscles 1  
congenital fibrosis of the extraocular muscles 2  
congenital fibrosis of the extraocular muscles 3A  
congenital fibrosis of the extraocular muscles 3C 
congenital fibrosis of the extraocular muscles 5  
Congenital Mydriasis +   
Cornea Plana 1 
Cornea Plana 2  
corneal dystrophy +   
Duane retraction syndrome +   
enhanced S-cone syndrome  
exudative vitreoretinopathy +   
familial benign fleck retina  
Floriform Cataract 
Foveal Hypoplasia +   
Foveal Hypoplasia with Anterior Segment Anomalies 
Friedreich ataxia +   
gait apraxia 
Glaucoma 1, Open Angle, P  
Graves ophthalmopathy  
Grouped Pigmentation of the Macula 
gyrate atrophy +   
hereditary night blindness +   
Hereditary Optic Atrophies +   
hereditary retinal dystrophy +   
High Hyperopia  
Histiocytic Dermatoarthritis 
ideomotor apraxia 
Iris Pigment Epithelium Anomalies 
Joubert syndrome 8  
Leber congenital amaurosis +   
Marinesco-Sjogren syndrome  
megalocornea +   
Microcephaly and Chorioretinopathy +   
mitochondrial DNA depletion syndrome 7  
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES  
ocular motor apraxia, Cogan type  
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 
Ophthalmomandibulomelic Dysplasia 
Peripapillary Atrophy, Beta Type 
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive  
pigmented paravenous chorioretinal atrophy  
PORETTI-BOLTSHAUSER SYNDROME  
primary coenzyme Q10 deficiency 4  
primary congenital glaucoma +   
pseudopapilledema 
Radial Drusen, Autosomal Dominant  
renal hypomagnesemia 5 with ocular involvement  
Retinal Aplasia 
Retinal Dysplasia +   
Retinal Dystrophy, Early Onset Severe +   
retinitis pigmentosa +   
Retinohepatoendocrinologic Syndrome 
Rhegmatogenous Retinal Detachment, Autosomal Dominant  
ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED  
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant 
Specific Language Impairment 4 
speech-language disorder-1  
spinocerebellar ataxia with axonal neuropathy 2  
Spondyloocular Syndrome, Autosomal Recessive  
Stickler Syndrome, Type I, Nonsyndromic Ocular  
Vascular Hyalinosis 
vitelliform macular dystrophy +   
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Walker-Warburg syndrome +   
Weill-Marchesani syndrome +   
Wieacker-Wolff syndrome  
X-Linked Macular Dystrophy +   

Synonyms
Exact Synonyms: AOA3 ;   PIK3R5-RELATED CONDITION ;   ataxia-oculomotor apraxia 3
Primary IDs: MIM:615217
Definition Sources: https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia "DO" "DO"

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