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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:hereditary peripheral neuropathy
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Accession:EFO:MONDO:0020127 term browser browse the term
Definition:An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual.
Synonyms:exact_synonym: genetic peripheral neuropathy
 alt_id: MONDO:0020127
 xref: GARD:10711;   MEDGEN:1825937;   ORDO:98497;   UMLS:C5681733


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Term paths to the root
Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          nervous system disease 0
            peripheral nervous system disease 0
              peripheral neuropathy 0
                hereditary peripheral neuropathy 0
                  Charcot-Marie-Tooth disease + 0
                  Charcot-Marie-Tooth disease type 5 0
                  Chediak-Higashi syndrome 0
                  EMILIN-1-related connective tissue disease 0
                  Finnish type amyloidosis 0
                  Kearns-Sayre syndrome 0
                  Krabbe disease + 0
                  Leigh syndrome + 0
                  NARP syndrome 0
                  Niemann-Pick disease type B 0
                  PHARC syndrome 0
                  PRPS1 deficiency disorder 0
                  Sandhoff disease + 0
                  Tay-Sachs disease + 0
                  abetalipoproteinemia 0
                  adrenomyeloneuropathy 0
                  adult polyglucosan body disease 0
                  attenuated Chédiak-Higashi syndrome 0
                  beta-mannosidosis 0
                  biotinidase deficiency 0
                  carpal tunnel syndrome + 0
                  cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 0
                  cerebrotendinous xanthomatosis 0
                  chorea-acanthocytosis 0
                  coenzyme Q10 deficiency + 0
                  congenital trigeminal anesthesia 0
                  distal hereditary motor neuropathy + 0
                  familial amyloid neuropathy + 0
                  familial episodic pain syndrome + 0
                  familial isolated deficiency of vitamin E 0
                  familial recurrent peripheral facial palsy 0
                  fumaric aciduria 0
                  giant axonal neuropathy + 0
                  hereditary motor and sensory neuropathy + 0
                  hereditary motor and sensory neuropathy, Okinawa type + 0
                  hereditary neuropathy with liability to pressure palsies 0
                  hereditary sensory and autonomic neuropathy + 0
                  hereditary sensory and autonomic neuropathy with spastic paraplegia 0
                  homocystinuria due to methylene tetrahydrofolate reductase deficiency 0
                  infantile axonal neuropathy 0
                  long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 0
                  metachromatic leukodystrophy + 0
                  methylmalonic aciduria and homocystinuria type cblC 0
                  mitochondrial DNA depletion syndrome 4a 0
                  mitochondrial neurogastrointestinal encephalomyopathy + 0
                  neurodegeneration with brain iron accumulation 2A 0
                  neuropathy with hearing impairment 0
                  neuropathy, congenital hypomelinating + 0
                  neuropathy, hereditary sensory and autonomic, type IId 0
                  optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 0
                  ornithine aminotransferase deficiency 0
                  oxoglutaricaciduria 0
                  peripheral motor neuropathy, childhood-onset, biotin-responsive 0
                  peroxisome biogenesis disorder + 0
                  primary CD59 deficiency 0
                  progressive demyelinating neuropathy with bilateral striatal necrosis 0
                  proximal spinal muscular atrophy + 0
                  pyruvate dehydrogenase deficiency + 0
                  sensory ataxic neuropathy, dysarthria, and ophthalmoparesis + 0
                  sodium channelopathy-related small fiber neuropathy 0
                  spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 0
                  spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          nervous system disease 0
            neuropathy 0
              neuromuscular disease 0
                peripheral neuropathy 0
                  hereditary peripheral neuropathy 0
                    Charcot-Marie-Tooth disease + 0
                    Charcot-Marie-Tooth disease type 5 0
                    Chediak-Higashi syndrome 0
                    EMILIN-1-related connective tissue disease 0
                    Finnish type amyloidosis 0
                    Kearns-Sayre syndrome 0
                    Krabbe disease + 0
                    Leigh syndrome + 0
                    NARP syndrome 0
                    Niemann-Pick disease type B 0
                    PHARC syndrome 0
                    PRPS1 deficiency disorder 0
                    Sandhoff disease + 0
                    Tay-Sachs disease + 0
                    abetalipoproteinemia 0
                    adrenomyeloneuropathy 0
                    adult polyglucosan body disease 0
                    attenuated Chédiak-Higashi syndrome 0
                    beta-mannosidosis 0
                    biotinidase deficiency 0
                    carpal tunnel syndrome + 0
                    cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 0
                    cerebrotendinous xanthomatosis 0
                    chorea-acanthocytosis 0
                    coenzyme Q10 deficiency + 0
                    congenital trigeminal anesthesia 0
                    distal hereditary motor neuropathy + 0
                    familial amyloid neuropathy + 0
                    familial episodic pain syndrome + 0
                    familial isolated deficiency of vitamin E 0
                    familial recurrent peripheral facial palsy 0
                    fumaric aciduria 0
                    giant axonal neuropathy + 0
                    hereditary motor and sensory neuropathy + 0
                    hereditary motor and sensory neuropathy, Okinawa type + 0
                    hereditary neuropathy with liability to pressure palsies 0
                    hereditary sensory and autonomic neuropathy + 0
                    hereditary sensory and autonomic neuropathy with spastic paraplegia 0
                    homocystinuria due to methylene tetrahydrofolate reductase deficiency 0
                    infantile axonal neuropathy 0
                    long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 0
                    metachromatic leukodystrophy + 0
                    methylmalonic aciduria and homocystinuria type cblC 0
                    mitochondrial DNA depletion syndrome 4a 0
                    mitochondrial neurogastrointestinal encephalomyopathy + 0
                    neurodegeneration with brain iron accumulation 2A 0
                    neuropathy with hearing impairment 0
                    neuropathy, congenital hypomelinating + 0
                    neuropathy, hereditary sensory and autonomic, type IId 0
                    optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 0
                    ornithine aminotransferase deficiency 0
                    oxoglutaricaciduria 0
                    peripheral motor neuropathy, childhood-onset, biotin-responsive 0
                    peroxisome biogenesis disorder + 0
                    primary CD59 deficiency 0
                    progressive demyelinating neuropathy with bilateral striatal necrosis 0
                    proximal spinal muscular atrophy + 0
                    pyruvate dehydrogenase deficiency + 0
                    sensory ataxic neuropathy, dysarthria, and ophthalmoparesis + 0
                    sodium channelopathy-related small fiber neuropathy 0
                    spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 0
                    spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 0
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