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Term:
Posterior Column Ataxia with Retinitis Pigmentosa (DOID:9008679)
Annotations: Rat: (2) Mouse: (2) Human: (3) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Ataxia +     
Abetalipoproteinemia Neuropathy  
adult-onset ataxia and polyneuropathy  
Aldred Syndrome 
Alstrom syndrome  
Amaurosis Hypertrichosis  
Arts syndrome  
Ataxia with Fasciculations 
Ataxia with Myoclonic Epilepsy and Presenile Dementia 
Ataxia, Deafness, and Cardiomyopathy 
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS  
Ataxia-Microcephaly-Cataract Syndrome 
Ataxia-Oculomotor Apraxia 4  
ataxic cerebral palsy 
Atonic-Astatic Syndrome of Foerster 
autosomal recessive pericentral pigmentary retinopathy 
Bangstad Syndrome 
Behr syndrome  
Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 
Bhaskar Jagannathan Syndrome 
Bork Stender Schmidt Syndrome 
CANOMAD Syndrome 
Carnitine Acetyltransferase Deficiency  
Cataract Ataxia Deafness 
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Chang Davidson Carlson Syndrome 
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline  
Christianson syndrome  
Chromosome Xp11.3 Deletion Syndrome  
COACH syndrome +   
coenzyme Q10 deficiency disease +   
Cone Dystrophy 4  
Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
Cone Rod Dystrophy Amelogenesis Imperfecta 
cone-rod dystrophy 1  
cone-rod dystrophy 10  
cone-rod dystrophy 11  
cone-rod dystrophy 12  
cone-rod dystrophy 13  
cone-rod dystrophy 14  
cone-rod dystrophy 16  
cone-rod dystrophy 17 
cone-rod dystrophy 19  
cone-rod dystrophy 2  
cone-rod dystrophy 20  
Cone-Rod Dystrophy 21  
cone-rod dystrophy 3  
cone-rod dystrophy 5  
cone-rod dystrophy 6  
cone-rod dystrophy 7  
cone-rod dystrophy 8 
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
Deafness Hyperuricemia Neurologic Ataxia 
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Diaminopentanuria 
dominant pericentral pigmentary retinopathy 
Erythrokeratodermia with Ataxia 
familial isolated deficiency of vitamin E  
Flynn Aird Syndrome 
Furukawa Takagi Nakao Syndrome 
Gait Ataxia +   
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
Hardikar Syndrome 
hereditary ataxia +   
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA  
isolated microphthalmia 5  
Jalili syndrome  
Joubert syndrome 7  
Kearns-Sayre syndrome  
late-adult onset retinitis pigmentosa 
Leber congenital amaurosis 14  
Leber congenital amaurosis 3  
Leukoencephalopathy with Ataxia  
Light Fixation Seizure Syndrome 
Macular Dystrophy with Central Cone Involvement  
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa  
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
Mirhosseini-Holmes-Walton Syndrome 
Mitochondrial Myopathy, and Ataxia  
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus 
Myokymia 1  
NARP syndrome  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
Newfoundland cone-rod dystrophy  
Oculotrichodysplasia 
Oliver-McFarlane syndrome  
optic atrophy 10  
OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME  
Partington syndrome  
Peripheral Cone Dystrophy 
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain 
PHARC syndrome  
Pigmentary Retinopathy and Sensorineural Deafness  
Posterior Column Ataxia with Retinitis Pigmentosa  
progressive myoclonus epilepsy 1B  
Progressive Pallidal Degeneration with Retinitis Pigmentosa 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Reardon Wilson Cavanagh Syndrome 
Retinal Cone Dystrophy 3A  
Retinal Cone Dystrophy 3B  
Retinal Cone Dystrophy 4  
retinitis pigmentosa 1  
retinitis pigmentosa 10  
retinitis pigmentosa 11  
retinitis pigmentosa 12  
retinitis pigmentosa 13  
retinitis pigmentosa 14  
retinitis pigmentosa 17  
retinitis pigmentosa 18  
retinitis pigmentosa 19  
retinitis pigmentosa 2  
retinitis pigmentosa 20  
retinitis pigmentosa 22 
retinitis pigmentosa 23  
retinitis pigmentosa 24 
retinitis pigmentosa 25  
retinitis pigmentosa 26  
retinitis pigmentosa 27  
retinitis pigmentosa 28  
retinitis pigmentosa 29 
retinitis pigmentosa 3  
retinitis pigmentosa 30  
retinitis pigmentosa 31  
retinitis pigmentosa 32  
retinitis pigmentosa 33  
retinitis pigmentosa 34 
retinitis pigmentosa 35  
retinitis pigmentosa 36  
retinitis pigmentosa 37  
retinitis pigmentosa 38  
retinitis pigmentosa 39  
retinitis pigmentosa 4  
retinitis pigmentosa 40  
retinitis pigmentosa 41  
retinitis pigmentosa 42  
retinitis pigmentosa 43  
retinitis pigmentosa 44  
retinitis pigmentosa 45  
retinitis pigmentosa 46  
retinitis pigmentosa 47  
retinitis pigmentosa 48  
retinitis pigmentosa 49  
retinitis pigmentosa 50  
retinitis pigmentosa 51  
retinitis pigmentosa 54  
retinitis pigmentosa 55  
retinitis pigmentosa 56  
retinitis pigmentosa 57  
retinitis pigmentosa 58  
retinitis pigmentosa 59  
retinitis pigmentosa 6  
retinitis pigmentosa 60  
retinitis pigmentosa 61  
retinitis pigmentosa 62  
retinitis pigmentosa 63 
retinitis pigmentosa 66  
retinitis pigmentosa 67  
retinitis pigmentosa 68  
retinitis pigmentosa 69  
retinitis pigmentosa 7  
retinitis pigmentosa 70  
retinitis pigmentosa 71  
retinitis pigmentosa 72  
retinitis pigmentosa 73  
retinitis pigmentosa 74  
retinitis pigmentosa 75  
Retinitis Pigmentosa 76  
retinitis pigmentosa 77  
Retinitis Pigmentosa 78  
Retinitis Pigmentosa 79  
Retinitis Pigmentosa 80  
retinitis pigmentosa 81  
retinitis pigmentosa 83  
retinitis pigmentosa 84  
retinitis pigmentosa 85  
retinitis pigmentosa 86  
retinitis pigmentosa 87  
retinitis pigmentosa 88  
retinitis pigmentosa 89  
retinitis pigmentosa 9  
retinitis pigmentosa 90  
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS  
Retinitis Pigmentosa Inversa with Deafness 
retinitis pigmentosa with or without situs inversus  
Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium 
retinitis pigmentosa Y-linked 
Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism 
Retinitis Pigmentosa, Late-Onset Dominant  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa 
RHYNS Syndrome  
Richards-Rundle Syndrome 
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 
Senior-Loken Syndrome 4  
Sensory Ataxia, Autosomal Dominant  
Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration 
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
short-rib thoracic dysplasia 9 with or without polydactyly  
Spastic Ataxia with Congenital Miosis 
Spastic Paraplegia, Ataxia, and Mental Retardation 
Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation 
Spinocerebellar Ataxias +   
spondyloepimetaphyseal dysplasia, Genevieve-type  
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy  
stress-induced childhood-onset neurodegeneration with variable ataxia and seizures  
Tapetoretinal Degeneration with Ataxia 
Treft Sanborn Carey Syndrome 
Tremor of Intention, Ataxia, and Lipofuscinosis 
Tryptophanuria with Dwarfism 
Usher syndrome +   
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked cone-rod dystrophy 3  
X-linked retinitis pigmentosa and sinorespiratory infections  

Synonyms
Exact Synonyms: AXPC1 ;   PCARP
Primary IDs: MESH:C536343 ;   RDO:0001890
Alternate IDs: OMIM:609033

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