Human Diseases

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 Immune system diseases
 Nervous system diseases
   Neurodegenerative diseases
   Other nervous and sensory system diseases
     H00524  TRPV4-related peripheral neuropathies
     H00604  Deafness, autosomal dominant
     H00605  Deafness, autosomal recessive
     H01209  Deafness, X-linked
     H01704  Sudden sensorineural hearing loss
     H01705  Bilateral sudden sensorineural hearing loss
     H01706  Delayed endolymphatic hydrops
     H01495  Meniere disease
     H00779  Usher syndrome (US)
     H00527  Retinitis pigmentosa (RP) [PATH:hsa04744 hsa00830 hsa03040 hsa00900]
     H01770  Macular dystrophy
     H00819  Stargardt disease (STGD) [PATH:hsa02010 hsa00062]
     H00481  Cone-rod dystrophy (CORD) and cone dystrophy (COD) [PATH:hsa04744 hsa00230]
     H00814  Vitelliform macular dystrophy
     H01766  Juvenile retinoschisis
     H01010  Occult macular dystrophy (OMD)
     H01768  Central areolar choroidal dystrophy
     H00821  Age-related macular degeneration
     H01651  Macular edema
     H00825  Familial flecked retina syndrome [PATH:hsa00830 hsa04744]
     H00837  Leber congenital amaurosis (LCR) [PATH:hsa00230 hsa00830 hsa04744]
     H00789  Keratoconus
     H00732  Sorsby fundus dystrophy
     H00726  Meesmann corneal dystrophy
     H00612  Primary open angle glaucoma [PATH:hsa03008]
     H00589  Familial exudative vitreoretinopathy (FEVR) [PATH:hsa04310]
     H00787  Congenital stationary night blindness (CSNB) [PATH:hsa04744 hsa04010 hsa04020 hsa04080 hsa04724]
     H01641  Dry eye desease
     H01644  Blepharitis
     H01717  Optic neuritis
     H01719  Optic neuropathy
     H00620  Axenfeld-Rieger syndrome (ARS) [PATH:hsa04350]
     H00633  Duane retraction syndrome
     H00634  Duane-radial ray syndrome
     H00635  Aniridia
     H00676  Congenital primary aphakia
     H00662  Ectopia lentis
     H00690  Aland Island eye disease
     H00732  Sorsby fundus dystrophy
     H00805  Vitreoretinal degeneration [PATH:hsa04510 hsa04512 hsa04514]
     H00951  Reis-Bucklers corneal dystrophy (RBCD)
     H00952  Thiel-Behnke dystrophies (TBCD)
     H00953  Gelatinous drop-like corneal dystrophy (GDCD)
     H00954  Macular corneal dystrophy (MCD) [PATH:hsa00533]
     H00955  Granular corneal dystrophies (GCD)
     H00956  Lattice corneal dystrophies (LCD) [PATH:hsa04810]
     H00957  Fleck corneal dystrophy (FCD) [PATH:hsa00562 hsa04070 hsa04145 hsa04810]
     H00958  Congenital stromal corneal dystrophy (CSCD) [PATH:hsa04350]
     H00959  Schnyder corneal dystrophy (SCD)
     H00960  Fuchs corneal dystrophy (FECD)
     H00961  Posterior polymorphous corneal dystrophy (PPCD)
     H00963  Congenital hereditary endothelial dystrophy (CHED)
     H00971  Achromatopsia [PATH:hsa04744]
     H00973  Bradyopsia [PATH:hsa04744]
     H00974  Blue cone monochromacy
     H00976  Colorblindness
     H01020  Autosomal dominant optic atrophy (DOA)
     H01130  Late-onset retinal degeneration (L-ORD)
     H01203  Primary congenital glaucoma (PCG) [PATH:hsa00140 hsa00380 hsa00980]
     H01202  Cataract [PATH:hsa04141]
     H01220  Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN)
     H01036  Posterior column ataxia with retinitis pigmentosa (PCARP)
     H02041  Myopia
     H00577  Symptomatic generalized epilepsies
     H00659  Shprintzen-Goldberg syndrome
     H00749  Episodic ataxias [PATH:hsa04010 hsa04020 hsa04260 hsa04721 hsa04724 hsa04725 hsa04727 hsa04728 hsa04730]
     H00769  Hyperekplexia [PATH:hsa04080]
     H00770  Congenital myasthenic syndrome [PATH:hsa04080 hsa00564 hsa04725 hsa04512 hsa00520]
     H00772  Paroxysmal extreme pain disorder (PEPD)
     H00774  Nav1.7-associated congenital insensitivity to pain (CIP)
     H00775  Familial or sporadic hemiplegic migraine [PATH:hsa04010 hsa04020 hsa04260 hsa04721 hsa04724 hsa04725 hsa04727 hsa04728 hsa04730]
     H00776  Congenital motor nystagmus (CMN)
     H00783  Febrile seizures [PATH:hsa04728 hsa04080 hsa04727]
     H00803  Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME)
     H00806  Benign familial neonatal and infantile epilepsies [PATH:hsa04725]
     H00848  Ataxia with ocular apraxia (AOA)
     H00807  Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) [PATH:hsa04080 hsa04725]
     H00808  Idiopathic generalied epilepsies (IGEs) [PATH:hsa04080 hsa04978 hsa04727 hsa04010 hsa04260]
     H00809  Autosomal dominant temporal lobe epilepsy (ADTLE)
     H00810  Progressive myoclonic epilepsy (PME) [PATH:hsa00062 hsa00970 hsa00511 hsa00600 hsa04120 hsa04142 hsa04310]
     H01994  Lafora disease
     H01995  Unverricht-Lundborg disease
     H00831  Primary dystonia [PATH:hsa00350 hsa00790 hsa04260 hsa04728 hsa04976 hsa04920]
     H00832  Core neuroacanthocytosis syndromes [PATH:hsa00770]
     H00836  GLUT1 deficiency syndrome (GLUT1DS) [PATH:hsa04976 hsa04920]
     H00820  Bjornstad syndrome
     H00854  Wolfram syndrome (WFS) [PATH:hsa04141]
     H00799  Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome [PATH:hsa04130]
     H00838  Congenital fibrosis of the extraocular muscles (CFEOM) [PATH:hsa04145 hsa04540]
     H00856  Distal hereditary motor neuropathies (dHMN)
     H00869  Leukoencephalopathy with vanishing white matter [PATH:hsa03013]
     H00871  Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) [PATH:hsa00970]
     H00874  Leukoencephalopathy with dystonia and motor neuropathy [PATH:hsa00120 hsa03320 hsa04146]
     H00875  Megalencephalic leukoencephalopathy with subcortical cysts (MLC)
     H00878  Cystic leukoencephalopathy without megalencephaly
     H00868  Stapes ankylosis with broad thumb and toes [PATH:hsa04350]
     H00885  Hypomelanosis of Ito
     H00913  Choreoathetosis, hypothyroidism, and neonatal respiratory distress
     H00921  Revesz syndrome
     H00946  Arts syndrome [PATH:hsa00030 hsa00230 hsa01100]
     H00949  Focal dermal hypoplasia [PATH:hsa04310]
     H00996  Amish infantile epilepsy syndrome [PATH:hsa00604]
     H00999  Coenzyme Q10 deficiency [PATH:hsa00130 hsa00900]
     H01005  Dopamine beta-hydroxylase deficiency [PATH:hsa00350]
     H00989  Mohr-Tranebjaerg syndrome
     H00998  Alternating hemiplegia of childhood [PATH:hsa04960 hsa04961 hsa04964]
     H01000  Retinal vasculopathy with cerebral leukodystrophy (RVCL) [PATH:hsa04623]
     H01007  Choroid plexus papilloma [PATH:hsa04010 hsa04110 hsa04115 hsa04210 hsa04310 hsa04722 hsa05200]
     H01009  Newfoundland rod-cone dystrophy (NFRCD)
     H01012  Oculo-auricular syndrome
     H01029  Cornea plana congenita
     H01031  Orthostatic intolerance (OI)
     H01034  L1 syndrome [PATH:hsa04360 hsa04514]
     H01038  Cerebellar ataxia cayman type (ATCAY)
     H01097  Cerebral palsy [PATH:hsa04727]
     H01221  Epithelial basement membrane corneal dystrophy (EBMD)
     H01075  Peters anomaly [PATH:hsa04350 hsa00140 hsa00380 hsa00980 hsa00514]
     H01088  Pigmented paravenous chorioretinal atrophy (PPCA)
     H01102  Pituitary adenomas [PATH:hsa05202 hsa04012 hsa04110 hsa04210 hsa04910]
     H01116  Choroideremia (CHM)
     H01118  Progressive external ophthalmoplegia (PEO) [PATH:hsa04020 hsa00230 hsa00240 hsa00480]
     H01124  Pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency [PATH:hsa00750]
     H01128  Reticular dysgenesis [PATH:hsa00230]
     H01131  Hereditary neuralgic amyotrophy (HNA)
     H01149  Ring dermoid of cornea [PATH:hsa04350]
     H01155  Roussy-Levy syndrome [PATH:hsa04514 hsa04146]
     H01159  Anterior segment dysgenesis (ASD)
     H01161  Aromatic L-amino acid decarboxylase (AADC) deficiency [PATH:hsa00350 hsa00380 hsa04726 hsa04728]
     H01170  Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
     H01172  Infantile ascending hereditary spastic paralysis (IAHSP)
     H01180  Sveinsson chorioretinal atrophy (SCRA)
     H00706  Bart-Pumphrey syndrome
     H01201  Jensen syndrome
     H01204  Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ)
     H01247  Pyridoxine-dependent epilepsy (PDE) [PATH:hsa00310]
     H01255  Juvenile-onset dystonia [PATH:hsa04145 hsa04510 hsa04520 hsa04530 hsa04670 hsa04810]
     H01256  Foveal hypoplasia
     H01258  Generalized epilepsy and paroxysmal dyskinesia (GEPD) [PATH:hsa04270]
     H01273  Autosomal dominant keratitis (ADK)
     H01284  Marinesco-Sjogren syndrome [PATH:hsa04141]
     H01287  Congenital mirror movements (CMM) [PATH:hsa04360 hsa03440]
     H01293  Narcolepsy
     H01296  Hereditary neuropathy with liability to pressure palsies (HNPP)
     H01301  Hemorrhagic destruction of the brain, subependymal calcification, and cataracts [PATH:hsa04530]
     H01378  Bosch-Boonstra optic atrophy syndrome
     H01391  Familial episodic pain syndrome (FEPS) [PATH:hsa04750]
     H00563  Emery-Dreifuss muscular dystrophy
     H00798  Familial carpal tunnel syndrome
     H01457  Diabetic retinopathy [PATH:hsa04933 hsa04066 hsa04614]
     H01459  Diabetic neuropathy [PATH:hsa04933]
     H00606  Early infantile epileptic encephalopathy [PATH:hsa04530 hsa04540 hsa00510 hsa04721 hsa04725 hsa00601]
     H01460  West syndrome [PATH:hsa00601]
     H01813  Lennox-Gastaut syndrome
     H01815  Malignant migrating partial seizures in infancy
     H01808  Hemiconvulsion-hemiplegia-epilepsy syndrome
     H01812  Rasmussen encephalitis [PATH:hsa04660]
     H01480  Idiopathic macular hole
     H01490  Multiple sclerosis
     H01491  Neuromyelitis optica
     H01496  Spondyloocular syndrome (SOS) [PATH:hsa00532 hsa00534]
     H01506  Hepatic encephalopathy
     H01504  Vogt-Koyanagi-Harada syndrome
     H01514  Landau-Kleffner syndrome
     H01527  Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)
     H01528  Neuroleptic malignant syndrome (NMS)
     H01561  Chiari malformation
     H01565  Wernicke encephalopathy [PATH:hsa04977]
     H01566  Beriberi
     H01570  Autosomal dominant striatal degeneration (ADSD) [PATH:hsa00230]
     H01574  Familial idiopathic basal ganglia calcification
     H01577  Essential tremor
     H01582  Pellagra
     H01588  Cluster headache
     H01594  Myasthenia gravis
     H01596  Lambert-Eaton myasthenic syndrome (LEMS)
     H01597  Restless legs syndrome
     H01608  Cervical dystonia
     H01611  Alcohol dependence [PATH:hsa05034]
     H01609  Insomnia
     H01638  Neuropathic pain
     H01646  Major depressive disorder [PATH:hsa04726]
     H01653  Bipolar disorder
     H01649  Schizophrenia [PATH:hsa04728 hsa04080]
     H01662  Generalized anxiety disorder
     H01664  Panic disorder
     H01670  Social anxiety disorder
     H01671  Neurosis [PATH:hsa04080 hsa04728]
     H01703  Eating Disorders [PATH:hsa04920 hsa04024]
     H01882  Asperger syndrome [PATH:hsa04514]
     H01668  Neoplastic meningitis
     H01675  Syringomyelia
     H01724  HTLV1-Associated Myelopathy (HAM) [PATH:hsa05166]
     H01676  Normal pressure hydrocephalus
     H01677  Congenital hydrocephalus [PATH:hsa04360 hsa04514 hsa04530]
     H01678  Dandy-Walker syndrome
     H01689  Fisher syndrome
     H01692  Subependymal giant cell astrocytoma [PATH:hsa04150]
     H01722  Galloway-Mowat syndrome
     H01775  PCDH19-related epilepsy syndrome
     H01798  Autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV)
     H01818  Dravet syndrome [PATH:hsa04728]
     H01819  Early myoclonic encephalopathy
     H01822  Epilepsy with myoclonic absence
     H01823  Myoclonic-astatic epilepsy
     H01826  Mesial temporal lobe epilepsy with hippocampal sclerosis
     H01827  Epileptic encephalopathy with continuous spike-waves during slow-wave sleep [PATH:hsa04724]
     H01829  Acute encephalitis with refractory repetitive partial seizures
     H01836  Congenital pain insensitivity with anhidrosis [PATH:hsa04722]
     H01837  Congenital suprabulbar paresis
     H01841  Acute encephalopathy with biphasic seizures and late reduced diffusion
     H01842  Bickerstaff brainstem encephalitis
     H01846  Superficial siderosis
     H01899  Dyslexia
     H01890  Pattern dystrophies of the retinal pigment epithelium
     H01924  Sydenham's chorea
     H01987  Familial dysautonomia
 Cardiovascular diseases
 Respiratory diseases
 Endocrine and metabolic diseases
 Digestive system diseases
 Urinary system diseases
 Reproductive system diseases
 Musculoskeletal diseases
 Skin diseases
 Congenital disorders of metabolism
 Other congenital disorders

Last updated: February 6, 2018

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