Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:hereditary neurological disease
go back to main search page
Accession:EFO:MONDO:0100545 term browser browse the term
Definition:A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles.
Synonyms:exact_synonym: neurogenetic disease
 alt_id: MONDO:0100545


show annotations for term's descendants           Sort by:
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
            hereditary neurological disease 0
              2-hydroxyglutaric aciduria + 0
              ATP1A3-associated neurological disorder + 0
              Al Kaissi syndrome 0
              Angelman syndrome + 0
              B4GALT1-congenital disorder of glycosylation 0
              Bailey-Bloch congenital myopathy 0
              Behr syndrome 0
              Bohring-Opitz syndrome 0
              Bosch-Boonstra-Schaaf optic atrophy syndrome 0
              Brody myopathy 0
              CK syndrome 0
              Chiari malformation type I 0
              Chiari malformation type II 0
              Cohen syndrome 0
              DHDDS-related syndrome + 0
              Duane retraction syndrome + 0
              Frey Syndrome 0
              GLUT1 deficiency syndrome + 0
              Gerstmann-Straussler-Scheinker syndrome 0
              Griscelli syndrome type 1 0
              HSD10 mitochondrial disease + 0
              Hoyeraal-Hreidarsson syndrome 0
              Johanson-Blizzard syndrome 0
              KBG syndrome 0
              King-Denborough syndrome 0
              Landau-Kleffner syndrome + 0
              Li-Fraumeni syndrome 0
              Mendelian neurodevelopmental disorder + 0
              Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 0
              Mowat-Wilson syndrome + 0
              Moyamoya disease + 0
              Myhre syndrome 0
              NPHP3-related Meckel-like syndrome 0
              PAX6-related ocular dysgenesis + 0
              PEHO-like syndrome 0
              PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 0
              PPP2R1A-related intellectual disability 0
              PRRT2-associated paroxysmal movement disorder + 0
              Paraganglioma + 0
              Parkinson disease + 0
              Perry syndrome 0
              Pierpont syndrome 0
              PrP systemic amyloidosis 0
              Prader-Willi-like syndrome + 0
              Riley-Day syndrome 0
              Ritscher-Schinzel syndrome + 0
              SATB2 associated disorder + 0
              SERAC1-related neurological disorder + 0
              SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth + 0
              SIN3A-related intellectual disability syndrome 0
              SLC39A8-CDG 0
              SLC6A3-related dopamine transporter deficiency syndrome + 0
              SPAST-related motor disorder + 0
              SYNGAP1-related developmental and epileptic encephalopathy 0
              Schinzel-Giedion syndrome 0
              Smith-Magenis syndrome 0
              Sturge-Weber syndrome 0
              TH-deficient dopa-responsive dystonia 0
              TPM2-related myopathy + 0
              TPM3-related myopathy + 0
              TTN-related myopathy + 0
              TUBB3-related tubulinopathy + 0
              Tourette syndrome 0
              Ververi-Brady syndrome 0
              X-linked deafness + 0
              X-linked immunoneurologic disorder 0
              X-linked intellectual disability + 0
              adult-onset nemaline myopathy 0
              advanced sleep phase syndrome 0
              alpha-actinopathy + 0
              anencephaly + 0
              angioid streaks + 0
              arthrogryposis + 0
              ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0
              ataxia telangiectasia 0
              auditory neuropathy + 0
              autosomal recessive non-syndromic intellectual disability + 0
              benign familial infantile epilepsy + 0
              benign neonatal seizures 0
              benign paroxysmal tonic upgaze of childhood with ataxia 0
              bilateral frontoparietal polymicrogyria 0
              bilateral generalized polymicrogyria 0
              bilateral parasagittal parieto-occipital polymicrogyria 0
              bilateral striopallidodentate calcinosis + 0
              bilirubin encephalopathy + 0
              biotin-responsive basal ganglia disease 0
              blue color blindness 0
              bradyopsia 0
              brain-lung-thyroid syndrome 0
              cardiac anomalies - developmental delay - facial dysmorphism syndrome 0
              caveolinopathy + 0
              central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease 0
              cerebral amyloid angiopathy + 0
              cerebral lipidosis with dementia + 0
              childhood apraxia of speech 0
              childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 0
              childhood-onset nemaline myopathy + 0
              choroid plexus papilloma 0
              chromosome 2p16.3 deletion syndrome 0
              chronic fatigue syndrome 0
              chronic inflammatory demyelinating polyneuropathy 0
              cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome 0
              coloboma of optic nerve + 0
              combined pituitary hormone deficiencies, genetic form + 0
              complex cortical dysplasia with other brain malformations + 0
              congenital hydrocephalus + 0
              congenital nystagmus + 0
              congenital stationary night blindness + 0
              craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome 0
              dilated cardiomyopathy 3B 0
              dyskinesia with orofacial involvement, autosomal dominant 0
              encephalopathy due to mitochondrial and peroxisomal fission defect + 0
              encephalopathy, acute, infection-induced + 0
              epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features + 0
              epilepsy, familial adult myoclonic + 0
              essential tremor + 0
              familial congenital mirror movements + 0
              familial congenital palsy of trochlear nerve 0
              familial hemiplegic migraine + 0
              familial hemophagocytic lymphohistiocytosis type 1 0
              familial hyperprolactinemia 0
              familial infantile myoclonic epilepsy 0
              familial isolated pituitary adenoma + 0
              familial meningioma 0
              familial partial epilepsy + 0
              familial periodic paralysis + 0
              familial porencephaly + 0
              familial pterygium of the conjunctiva 0
              familial retinal arterial macroaneurysm 0
              familial schizencephaly 0
              familial syringomyelia 0
              famililal cerebral cavernous malformations + 0
              folinic acid-responsive seizures 0
              glutaryl-CoA dehydrogenase deficiency 0
              glycine encephalopathy + 0
              hereditary ataxia + 0
              hereditary cryohydrocytosis with reduced stomatin 0
              hereditary generalized epilepsy + 0
              hereditary hyperekplexia + 0
              hereditary narcolepsy 0
              hereditary neuromuscular disease + 0
              hereditary retinoblastoma 0
              holoprosencephaly + 0
              hypermanganesemia with dystonia 2 0
              inborn aminoacylase deficiency + 0
              infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 0
              infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 0
              inherited dystonia + 0
              inherited neurodegenerative disorder + 0
              inherited orthostatic hypotension + 0
              inherited reflex epilepsy + 0
              inherited retinal dystrophy + 0
              inherited vitreoretinopathy + 0
              intellectual developmental disorder and retinitis pigmentosa 0
              intellectual developmental disorder with dysmorphic facies and behavioral abnormalities 0
              intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies 0
              intellectual developmental disorder with neuropsychiatric features 0
              intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 0
              intellectual disability, autosomal dominant + 0
              intellectual disability, autosomal recessive 53 0
              intellectual disability-hypotonia-spasticity-sleep disorder syndrome 0
              intellectual disability-severe speech delay-mild dysmorphism syndrome 0
              intellectual disability-sparse hair-brachydactyly syndrome 0
              intracranial berry aneurysm + 0
              isolated cerebellar hypoplasia/agenesis 0
              isolated hereditary congenital facial paralysis 0
              lateral meningocele syndrome 0
              lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 0
              leukoencephalopathy, megalencephalic + 0
              linear nevus sebaceous syndrome 0
              lissencephaly spectrum disorders + 0
              macrocephaly/megalencephaly syndrome, autosomal recessive 0
              megalencephaly-capillary malformation-polymicrogyria syndrome 0
              megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome + 0
              microangiopathy and leukoencephalopathy, pontine, autosomal dominant 0
              microcephaly-complex motor and sensory axonal neuropathy syndrome 0
              mismatch repair cancer syndrome 1 0
              multiminicore myopathy + 0
              multiple pterygium-malignant hyperthermia syndrome 0
              myoclonus, familial 0
              myofibrillar myopathy 5 0
              myopathy caused by variation in POMGNT1 + 0
              myopathy due to calsequestrin and SERCA1 protein overload 0
              myopic macular degeneration 0
              myosclerosis 0
              neurocutaneous melanocytosis 0
              neurofibromatosis + 0
              neurohypophyseal diabetes insipidus 0
              neuroocular syndrome 0
              nevoid basal cell carcinoma syndrome 0
              noise-induced hearing loss 0
              nonsyndromic genetic hearing loss + 0
              normal pressure hydrocephalus 0
              obsessive-compulsive disorder 0
              occipital pachygyria and polymicrogyria 0
              oculocerebrocutaneous syndrome 0
              orofaciodigital syndrome type 6 0
              parietal foramina + 0
              parkinsonism with polyneuropathy 0
              paroxysmal extreme pain disorder 0
              periventricular nodular heterotopia + 0
              permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 0
              phakomatosis pigmentokeratotica 0
              polyhydramnios, megalencephaly, and symptomatic epilepsy 0
              pontocerebellar hypoplasia + 0
              progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome 0
              progressive external ophthalmoplegia + 0
              progressive myoclonus epilepsy + 0
              proximal myopathy with extrapyramidal signs 0
              pyridoxal phosphate-responsive seizures 0
              pyridoxine-dependent epilepsy + 0
              qualitative or quantitative defects of TRIM32 + 0
              qualitative or quantitative defects of alpha-sarcoglycan + 0
              qualitative or quantitative defects of beta-myosin heavy chain (MYH7) + 0
              qualitative or quantitative defects of beta-sarcoglycan + 0
              qualitative or quantitative defects of delta-sarcoglycan + 0
              qualitative or quantitative defects of desmin + 0
              qualitative or quantitative defects of dysferlin + 0
              qualitative or quantitative defects of gamma-sarcoglycan + 0
              qualitative or quantitative defects of perlecan + 0
              qualitative or quantitative defects of plectin + 0
              qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan + 0
              qualitative or quantitative defects of telethonin + 0
              red color blindness 0
              red-green color blindness 0
              retinal ciliopathy + 0
              retinal detachment + 0
              rhabdoid tumor predisposition syndrome 2 0
              rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 0
              sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 0
              schizophrenia 15 0
              severe congenital nemaline myopathy + 0
              severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 0
              severe neonatal-onset encephalopathy with microcephaly 0
              short stature-brachydactyly-obesity-global developmental delay syndrome 0
              spastic quadriplegic cerebral palsy + 0
              specific language impairment + 0
              specific phobia + 0
              stutter disorder + 0
              tuberous sclerosis 0
              typical nemaline myopathy + 0
              undetermined early-onset epileptic encephalopathy + 0
paths to the root