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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
abetalipoproteinemia 
acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 
adrenomyeloneuropathy 
adult polyglucosan body disease 
adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy +  
ataxia neuropathy spectrum +  
attenuated Chédiak-Higashi syndrome 
autosomal dominant mitochondrial myopathy with exercise intolerance 
autosomal dominant optic atrophy and peripheral neuropathy 
autosomal dominant optic atrophy, classic form 
autosomal recessive optic atrophy, OPA7 type 
beta-mannosidosis 
biotinidase deficiency 
carpal tunnel syndrome +   
cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 
cerebral creatine deficiency syndrome +  
cerebrotendinous xanthomatosis 
Charcot-Marie-Tooth disease +  
Charcot-Marie-Tooth disease recessive intermediate D 
Charcot-Marie-Tooth disease type 4K 
Charcot-Marie-Tooth disease type 5 
Chediak-Higashi syndrome 
chorea-acanthocytosis 
chronic diarrhea with villous atrophy 
coenzyme Q10 deficiency +  
combined oxidative phosphorylation deficiency +  
congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 
congenital trigeminal anesthesia 
deafness, aminoglycoside-induced 
distal hereditary motor neuropathy +  
EMILIN-1-related connective tissue disease 
encephalopathy due to mitochondrial and peroxisomal fission defect +  
episodic ataxia type 1 
familial amyloid neuropathy +  
familial episodic pain syndrome +  
familial isolated deficiency of vitamin E 
familial recurrent peripheral facial palsy 
FASTKD2-related infantile mitochondrial encephalomyopathy 
fatal infantile encephalocardiomyopathy +  
Finnish type amyloidosis 
folinic acid-responsive seizures 
fumaric aciduria 
giant axonal neuropathy +  
GLUT1 deficiency syndrome +  
hereditary motor and sensory neuropathy +  
hereditary motor and sensory neuropathy, Okinawa type +  
hereditary neuropathy with liability to pressure palsies 
hereditary sensory and autonomic neuropathy +  
hereditary sensory and autonomic neuropathy with spastic paraplegia 
hereditary spastic paraplegia 55 
hereditary spastic paraplegia 7 
hereditary spastic paraplegia 77 
holocarboxylase synthetase deficiency 
homocystinuria due to methylene tetrahydrofolate reductase deficiency 
hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome 
hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation 
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome 
infantile axonal neuropathy 
Kearns-Sayre syndrome 
Krabbe disease +  
Leber hereditary optic neuropathy 
Leber plus disease 
Leigh syndrome +  
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 
long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 
maternally-inherited diabetes and deafness 
maternally-inherited mitochondrial dystonia 
maternally-inherited progressive external ophthalmoplegia 
MERRF syndrome 
metachromatic leukodystrophy +  
methylmalonic aciduria and homocystinuria type cblC 
mitochondrial DNA depletion syndrome +  
mitochondrial DNA depletion syndrome 4a 
mitochondrial DNA maintenance syndrome 
mitochondrial neurogastrointestinal encephalomyopathy 
mitochondrial non-syndromic sensorineural hearing loss +  
myopathy, lactic acidosis, and sideroblastic anemia 
NARP syndrome 
Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.
neurodegeneration with brain iron accumulation 2A 
neuropathy with hearing impairment 
neuropathy, congenital hypomelinating +  
neuropathy, hereditary sensory and autonomic, type IId 
Niemann-Pick disease type B 
optic atrophy 3 
optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 
ornithine aminotransferase deficiency 
oxoglutaricaciduria 
pancreatic insufficiency-anemia-hyperostosis syndrome 
periodic paralysis with later-onset distal motor neuropathy 
peroxisomal disease +  
peroxisome biogenesis disorder +  
Perrault syndrome +  
PHARC syndrome 
pontocerebellar hypoplasia type 6 
primary CD59 deficiency 
progressive demyelinating neuropathy with bilateral striatal necrosis 
proximal spinal muscular atrophy +  
PRPS1 deficiency disorder 
pyridoxal phosphate-responsive seizures 
pyridoxine-dependent epilepsy +  
pyruvate dehydrogenase deficiency +  
Sandhoff disease +  
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +  
sodium channelopathy-related small fiber neuropathy 
spastic ataxia 3 
spastic ataxia 4 
spinocerebellar ataxia type 28 
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 
Tay-Sachs disease +  
Zellweger-like syndrome without peroxisomal anomalies 

Synonyms
Exact Synonyms: neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
Related Synonyms: NARP ;   neuropathy ataxia retinitis pigmentosa syndrome ;   neuropathy, ataxia, and retinitis pigmentosa
Alternate IDs: MONDO:0010794
Xrefs: DOID:0111273 ;   GARD:262 ;   MEDGEN:231285 ;   MESH:C537396 ;   MIM:551500 ;   MedDRA:10062940 ;   ORDO:644 ;   UMLS:C1328349 ;   icd11.foundation:2089784682
Definition Sources: Orphanet:644

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