Human Diseases

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 Immune system diseases
 Nervous 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
   Congenital malformations of the nervous system
     H00120  Muscular dystrophy-dystroglycanopathy type A [PATH:hsa00515]
     H00269  Primary microcephaly
     H02132  Microcephaly syndrome
     H00990  Microcephaly, Amish type
     H01835  Neuronal migration disorder
     H00268  Lissencephaly
     H00270  Periventricular nodular heterotopia
     H00271  Polymicrogyria
     H00263  Acrocallosal syndrome [PATH:hsa04340]
     H00839  Porencephaly [PATH:hsa04510 hsa04512]
     H01160  Schizencephaly [PATH:hsa04340]
     H00544  Septo-optic dysplasia
     H00267  Holoprosencephaly [PATH:hsa04340]
     H00530  Joubert syndrome [PATH:hsa00562 hsa04070 hsa04340]
     H00262  Spina bifida [PATH:hsa00670]
     H00792  Warburg micro syndrome
     H01001  COACH syndrome
     H01034  L1 syndrome [PATH:hsa04360 hsa04514]
     H01112  Polyhydramnios, megalencephaly, and symptomatic epilepsy [PATH:hsa04150]
     H01211  MECP2-related severe neonatal encephalopathy
     H01251  Focal cortical dysplasia of Taylor [PATH:hsa04150 hsa04910]
     H01561  Chiari malformation
     H01675  Syringomyelia
     H01677  Congenital hydrocephalus [PATH:hsa04360 hsa04514 hsa04530]
     H01678  Dandy-Walker syndrome
     H01789  You-Hoover-Fong syndrome
     H01722  Galloway-Mowat syndrome
     H01811  Arima syndrome
     H01833  Hemimegalencephaly
     H01870  Microhydranencephaly
     H01881  Complex cortical dysplasia with other brain malformations
     H01921  MICPCH syndrome
     H01937  Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly
     H02118  Agnathia-otocephaly complex
     H02120  Anencephaly
     H02151  Hereditary congenital facial paresis [PATH:hsa04550]
     H02178  MASA syndrome [PATH:hsa04360 hsa04514]
     H02272  CAPOS syndrome
     H02282  Spastic tetraplegia, thin corpus callosum, and progressive microcephaly
     H02287  Deafness, dystonia, and cerebral hypomyelination [PATH:hsa04141]
     H02326  Keipert syndrome [PATH:hsa04310]
     H02355  Deafness and myopia
     H02356  PCWH syndrome
     H02358  Arthrogryposis multiplex congenita, neurogenic, with myelin defect
     H02396  Corpus callosum agenesis with facial anomalies and cerebellar ataxia
     H02431  Cerebellar hypoplasia, epilepsy, and global developmental delay
     H02444  Luscan-Lumish syndrome
     H02446  Autosomal recessive macrocephaly/megalencephaly syndrome [PATH:hsa04150]
   Congenital malformations of eye
   Congenital malformations of ear
   Congenital malformations of face and neck
   Congenital malformations of the circulatory system
   Congenital malformations of the digestive system
   Congenital malformations of genital organs
   Congenital malformations of the urinary system
   Congenital malformations of the musculoskeletal system
   Congenital malformations of skin
   Other congenital malformations
 Other congenital disorders
 Other diseases

Last updated: November 20, 2020

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