Human Diseases

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 Immune system diseases
 Nervous system diseases
   Neurodegenerative diseases
   Eye disease
   Ear disease
   Other nervous and sensory system diseases
     H02359  Dejerine-Sottas disease
     H02344  Cowchock syndrome [PATH:hsa04210 hsa04217]
     H00265  Hereditary sensory and autonomic neuropathy [PATH:hsa00600 hsa04144 hsa04145 hsa04010 hsa04210 hsa04722]
     H00266  Hereditary spastic paraplegia [PATH:hsa04144 hsa04142]
     H00524  Scapuloperoneal spinal muscular atrophy
     H00688  Familial advanced sleep phase syndrome [PATH:hsa04710]
     H00689  Delayed sleep phase syndrome [PATH:hsa00380 hsa04710]
     H00916  Congenital central hypoventilation syndrome [PATH:hsa04010 hsa04722]
     H00770  Congenital myasthenic syndrome [PATH:hsa04080 hsa00564 hsa04725 hsa04512 hsa00520]
     H00772  Paroxysmal extreme pain disorder
     H00769  Hyperekplexia [PATH:hsa04080 hsa04721]
     H00774  Congenital insensitivity to pain
     H00775  Hemiplegic migraine [PATH:hsa04010 hsa04020 hsa04260 hsa04721 hsa04724 hsa04725 hsa04727 hsa04728 hsa04730]
     H00803  Seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME)
     H00831  Primary dystonia [PATH:hsa00350 hsa00790 hsa04260 hsa04728 hsa04976 hsa04920]
     H00836  GLUT1 deficiency syndrome [PATH:hsa04976 hsa04920]
     H00840  Band-like calcification with simplified gyration and polymicrogyria [PATH:hsa04514 hsa04530 hsa04670]
     H00860  Benign hereditary chorea [PATH:hsa04918]
     H00989  Mohr-Tranebjaerg syndrome
     H00998  Alternating hemiplegia of childhood [PATH:hsa04960 hsa04961 hsa04964]
     H01000  Retinal vasculopathy with cerebral leukodystrophy [PATH:hsa04623]
     H01005  Dopamine beta-hydroxylase deficiency [PATH:hsa00350]
     H01007  Choroid plexus papilloma [PATH:hsa04010 hsa04110 hsa04115 hsa04210 hsa04310 hsa04722 hsa05200]
     H01097  Spastic quadriplegic cerebral palsy [PATH:hsa04727]
     H01131  Hereditary neuralgic amyotrophy
     H01155  Roussy-Levy syndrome [PATH:hsa04514 hsa04146]
     H01161  Aromatic L-amino acid decarboxylase deficiency [PATH:hsa00350 hsa00380 hsa04726 hsa04728]
     H01201  Jensen syndrome
     H01287  Congenital mirror movements [PATH:hsa04360 hsa03440]
     H01293  Narcolepsy
     H01296  Hereditary neuropathy with liability to pressure palsies
     H01301  Hemorrhagic destruction of the brain, subependymal calcification, and cataracts [PATH:hsa04530]
     H00798  Familial carpal tunnel syndrome
     H01812  Rasmussen encephalitis [PATH:hsa04660]
     H01436  Guillain-Barre syndrome
     H01689  Fisher syndrome
     H01490  Multiple sclerosis [PATH:hsa04514]
     H01491  Neuromyelitis optica
     H01504  Vogt-Koyanagi-Harada syndrome
     H01506  Hepatic encephalopathy
     H01527  Chronic inflammatory demyelinating polyradiculoneuropathy
     H01528  Neuroleptic malignant syndrome
     H01565  Wernicke encephalopathy [PATH:hsa04977]
     H01577  Essential tremor
     H01588  Cluster headache
     H01594  Myasthenia gravis
     H01596  Lambert-Eaton myasthenic syndrome
     H01597  Restless legs syndrome
     H01608  Cervical dystonia
     H01609  Insomnia
     H01638  Neuropathic pain
     H01668  Neoplastic meningitis
     H01724  HTLV1-associated myelopathy [PATH:hsa05166]
     H01676  Normal pressure hydrocephalus
     H01692  Subependymal giant cell astrocytoma [PATH:hsa04150]
     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
     H01924  Sydenham chorea
     H01987  Familial dysautonomia
     H02101  Autosomal dominant sensory ataxia
     H02137  Laurence-Moon syndrome [PATH:hsa00564]
     H02140  Boucher-Neuhauser syndrome [PATH:hsa00564]
     H02174  Sudden infant death with dysgenesis of the testes syndrome
     H02251  Coats plus syndrome
     H02345  Autosomal recessive peripheral neuropathy (PNRIID)
     H02357  Congenital hypomyelinating neuropathy
     H02366  Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
     H02367  Chorea, childhood-onset, with psychomotor retardation
     H02388  Infantile-onset limb and orofacial dyskinesia [PATH:hsa00230 hsa04024]
     H02389  Familial dyskinesia with facial myokymia [PATH:hsa04024 hsa04724 hsa04725]
     H02390  Autosomal recessive neuromyotonia and axonal neuropathy
     H02430  Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus [PATH:hsa04141]
     H02450  Horizontal gaze palsy with progressive scoliosis
 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
 Congenital malformations
 Other congenital disorders
 Other diseases

Last updated: January 15, 2021

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