Human Diseases

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 Immune system diseases
 Nervous system diseases
   Neurodegenerative diseases
   Eye disease
     H00527  Retinitis pigmentosa [PATH:hsa04744 hsa00830 hsa03040 hsa00900]
     H00589  Familial exudative vitreoretinopathy [PATH:hsa04310]
     H00612  Primary open angle glaucoma [PATH:hsa03008]
     H00633  Duane retraction syndrome
     H00690  Aland Island eye disease
     H00726  Meesmann corneal dystrophy
     H00732  Sorsby fundus dystrophy
     H00776  Congenital motor nystagmus (CMN)
     H00779  Usher syndrome (US)
     H00787  Congenital stationary night blindness [PATH:hsa04744 hsa04010 hsa04020 hsa04080 hsa04724]
     H00789  Keratoconus
     H00805  Vitreoretinal degeneration [PATH:hsa04510 hsa04512 hsa04514]
     H02073  Wagner syndrome [PATH:hsa04514]
     H02075  Enhanced S-cone syndrome
     H02341  Goldmann-Favre syndrome
     H02077  Snowflake vitreoretinal degeneration
     H02078  Autosomal dominant vitreoretinochoroidopathy
     H00821  Age-related macular degeneration [PATH:hsa04610]
     H01770  Macular dystrophy
     H00481  Cone-rod dystrophy and cone dystrophy [PATH:hsa04744 hsa00230]
     H00814  Vitelliform macular dystrophy
     H00819  Stargardt disease [PATH:hsa02010 hsa00062 hsa01040]
     H01010  Occult macular dystrophy
     H01768  Central areolar choroidal dystrophy
     H01890  Pattern dystrophies of the retinal pigment epithelium
     H01009  Newfoundland rod-cone dystrophy
     H00825  Familial flecked retina syndrome [PATH:hsa00830 hsa04744]
     H02440  Fleck retina, familial benign [PATH:hsa00591 hsa00592 hsa00590]
     H00837  Leber congenital amaurosis [PATH:hsa00230 hsa00830 hsa04744]
     H00838  Congenital fibrosis of the extraocular muscles [PATH:hsa04145 hsa04540]
     H00951  Reis-Bucklers corneal dystrophy
     H00952  Thiel-Behnke dystrophies
     H00953  Gelatinous drop-like corneal dystrophy
     H00954  Macular corneal dystrophy [PATH:hsa00533]
     H00955  Granular corneal dystrophies
     H00956  Lattice corneal dystrophies
     H00957  Fleck corneal dystrophy [PATH:hsa00562 hsa04070 hsa04145 hsa04810]
     H00958  Congenital stromal corneal dystrophy [PATH:hsa04350]
     H00959  Schnyder corneal dystrophy
     H00960  Fuchs corneal dystrophy
     H00961  Posterior polymorphous corneal dystrophy
     H00963  Congenital hereditary endothelial dystrophy
     H01149  Ring dermoid of cornea [PATH:hsa04350]
     H01221  Epithelial basement membrane corneal dystrophy
     H00971  Achromatopsia [PATH:hsa04744]
     H00973  Bradyopsia [PATH:hsa04744]
     H00974  Blue cone monochromacy
     H00976  Colorblindness
     H01015  Jalili syndrome
     H01020  Optic atrophy
     H01088  Pigmented paravenous chorioretinal atrophy
     H01180  Sveinsson chorioretinal atrophy (SCRA) [PATH:hsa04390]
     H01116  Choroideremia
     H01118  Progressive external ophthalmoplegia
     H01130  Late-onset retinal degeneration
     H01202  Cataract [PATH:hsa04141]
     H01256  Foveal hypoplasia
     H01273  Autosomal dominant keratitis
     H01378  Bosch-Boonstra optic atrophy syndrome
     H01480  Idiopathic macular hole
     H01641  Dry eye desease
     H01644  Blepharitis
     H01651  Macular edema
     H01717  Optic neuritis
     H01719  Optic neuropathy
     H01798  Autosomal dominant neovascular inflammatory vitreoretinopathy
     H02041  Myopia
     H02104  Megalocornea
     H02107  Bietti crystalline corneoretinal dystrophy
     H02108  Basal laminar drusen [PATH:hsa04610]
     H02110  Doyne honeycomb retinal dystrophy
     H02112  Persistent hyperplastic primary vitreous
     H02113  Infantile cerebellar-retinal degeneration [PATH:hsa00020 hsa00630]
     H02114  Spastic paraplegia, optic atrophy, and neuropathy
     H02135  Cone-rod dystrophy and hearing loss
     H02204  Hereditary hyperferritinaemia-cataract syndrome
     H02469  Cone-rod synaptic disorder
     H02475  Retinoschisis
   Ear disease
   Other nervous and sensory system diseases
 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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