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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
3-methylglutaconic aciduria type 3  
achromatopsia 4  
Achromatopsia 5  
Acrootoocular Syndrome 
Aicardi syndrome  
Al Gazali Khidr Prem Chandran Syndrome 
Al Gazali Sabrinathan Nair Syndrome 
Alacrima +   
Albinism +   
Alexander disease  
aniridia +   
ataxia with oculomotor apraxia type 3  
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION  
Ataxia-Microcephaly-Cataract Syndrome 
ataxia-oculomotor apraxia type 4  
basal laminar drusen  
Behr syndrome  
bestrophinopathy  
Bothnia retinal dystrophy  
bradyopsia +   
Canavan disease  
CAPOS Syndrome  
cataract 17 multiple types  
cataract 22 multiple types  
cataract 35 
Cataract, Pulverulent 
Cavitary Optic Disc Anomalies  
Cerebrocortical Degeneration of Infancy 
childhood spinal muscular atrophy +   
childhood-onset dystonia with optic atrophy and basal ganglia abnormalities  
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline  
Cholestasis with Gallstone, Ataxia, and Visual Disturbance 
Choroideremia +   
Cockayne syndrome +   
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 Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 
Congenital Mydriasis +   
Cornea Plana 1 
Cornea Plana 2  
corneal dystrophy +   
deafness-dystonia-optic neuronopathy syndrome  
Duane retraction syndrome +   
Dystonia Musculorum Deformans +   
enhanced S-cone syndrome  
exudative vitreoretinopathy +   
Familial Amyloid Polyneuropathies +   
familial benign fleck retina  
familial encephalopathy with neuroserpin inclusion bodies  
Familial Partial Lipodystrophy Type 7  
Floriform Cataract 
Foveal Hypoplasia +   
Foveal Hypoplasia with Anterior Segment Anomalies 
Gerstmann-Straussler-Scheinker syndrome  
Gilles de la Tourette syndrome +   
Glaucoma 1, Open Angle, P  
glaucomatous atrophy of optic disc 
Graves ophthalmopathy  
Grouped Pigmentation of the Macula 
gyrate atrophy +   
Halperin-Birk syndrome  
Hereditary Central Nervous System Demyelinating Diseases +   
hereditary night blindness +   
Hereditary Optic Atrophies +   
Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER).
hereditary retinal dystrophy +   
hereditary sensory neuropathy +   
High Hyperopia  
Histiocytic Dermatoarthritis 
Huntington's disease +   
Huntington's disease-like 2  
Huntington's Disease-Like Syndrome  
infantile cerebellar-retinal degeneration  
Iris Pigment Epithelium Anomalies 
Joubert syndrome 8  
Kennedy's disease  
Lafora disease +   
Leber congenital amaurosis +   
Leukoencephalomyelopathy  
megalocornea +   
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Microcephaly and Chorioretinopathy +   
mitochondrial DNA depletion syndrome 16B  
mitochondrial DNA depletion syndrome 6  
motor peripheral neuropathy +   
Multiple mitochondrial dysfunctions syndrome 8  
myotonia congenita +   
myotonic dystrophy type 1 +   
neuroacanthocytosis +   
Neurodegeneration with Ataxia and Late-Onset Optic Atrophy  
NEURODEGENERATION, INFANTILE-ONSET, WITH OPTIC ATROPHY AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY  
neurofibromatosis +   
neurogenic scapuloperoneal syndrome Kaeser type  
neuronal ceroid lipofuscinosis +   
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 
Ophthalmomandibulomelic Dysplasia 
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME  
Opticocochleodentate Degeneration 
pantothenate kinase-associated neurodegeneration  
partial optic atrophy 
PCWH syndrome  
PEHO syndrome  
Peripapillary Atrophy, Beta Type 
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive  
pigmented paravenous chorioretinal atrophy  
PORETTI-BOLTSHAUSER SYNDROME  
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
primary cerebellar degeneration +   
primary congenital glaucoma +   
primary optic atrophy 
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
Progressive Psychomotor Deterioration  
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  
Silengo Lerone Pelizza Syndrome 
spastic ataxia +   
spinal muscular atrophy with lower extremity predominant +   
SPOAN syndrome  
Spondyloocular Syndrome, Autosomal Recessive  
Spongiform Encephalopathy with Neuropsychiatric Features  
Stickler Syndrome, Type I, Nonsyndromic Ocular  
syndromic microphthalmia 10 
Treft Sanborn Carey Syndrome 
tuberous sclerosis +   
Unverricht-Lundborg syndrome +   
Vascular Hyalinosis 
vitelliform macular dystrophy +   
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Walker-Warburg syndrome +   
Warburg micro syndrome +   
Weill-Marchesani syndrome +   
Wilson disease +   
X-Linked Intellectual Developmental Disorders +   
X-Linked Macular Dystrophy +   
X-linked mental retardation Gustavson type  

Synonyms
Exact Synonyms: Hereditary Optic Atrophy
Narrow Synonyms: AUTOSOMAL RECESSIVE OPTIC ATROPHY ;   OPTIC ATROPHY, RECESSIVE
Xrefs: MESH:D015418 ;   MONDO:0043878 ;   NCI:C34864
Definition Sources: MESH:D015418

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