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
   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
     H01771  Congenital ichthyosis
     H00134  X-linked ichthyosis [PATH:hsa00140]
     H00671  Netherton syndrome
     H00691  Bullous congenital ichthyosiform erythroderma (BCIE)
     H00693  Ichthyosis bullosa of Siemens
     H00707  Ichthyosis hystrix, Curth-Macklin type
     H02265  Annular epidermolytic ichthyosis
     H00712  KID/HID syndrome
     H00733  Harlequin ichthyosis [PATH:hsa02010]
     H00734  Autosomal recessive congenital ichthyosis
     H02449  Autosomal dominant lamellar ichthyosis
     H00735  Ichthyosis vulgaris
     H00737  Peeling skin syndrome
     H00738  Ichthyosis with confetti
     H00739  Ichthyosis with hypotrichosis
     H00740  Ichthyosis follicularis, alopecia, and photophobia syndrome [PATH:hsa04141]
     H00741  Ichthyosis prematurity syndrome
     H00742  Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome [PATH:hsa04514 hsa04530 hsa04670]
     H01737  Epidermolysis bullosa
     H00584  Epidermolysis bullosa simplex
     H00585  Epidermolysis bullosa, hemidesmosomal
     H00586  Epidermolysis bullosa, junctional [PATH:hsa04510 hsa04512 hsa04514 hsa04810]
     H00587  Epidermolysis bullosa, dysprophica
     H00763  Transient bullous dermolysis of the newborn
     H00425  Lysosomal cysteine protease deficiencies [PATH:hsa04142 hsa04620 hsa04612]
     H00274  Papillon-Lefevre syndrome [PATH:hsa04142]
     H00487  Tricho-dento-osseous syndrome
     H00646  Odontoonychodermal dysplasia [PATH:hsa04310 hsa04340 hsa04916 hsa05200]
     H00535  Hereditary lymphedema [PATH:hsa04010 hsa04510 hsa04151 hsa04015]
     H00557  Cutis laxa
     H00558  Geroderma osteodysplasticum
     H00560  Pseudoxanthoma elasticum [PATH:hsa02010]
     H00638  Ectrodactyly-ectodermal dysplasia cleft-palate syndrome
     H00645  Incontinentia pigmenti [PATH:hsa04010 hsa04062 hsa04210 hsa04380 hsa04660 hsa04662 hsa04920]
     H00644  Ectodermal dysplasia/skin fragility syndrome
     H00647  Ectodermal dysplasia-syndactyly syndrome [PATH:hsa04520]
     H00648  Ectodermal dysplasia, Clouston type
     H00649  Ectodermal dysplasia, hair-nail type
     H00651  Hypohidrotic ectodermal dysplasia [PATH:hsa04060]
     H02456  Ectodermal dysplasia
     H00663  Restrictive dermopathy [PATH:hsa00900]
     H00695  Mal de Meleda
     H00706  Bart-Pumphrey syndrome
     H00708  Naegeli-Franceschetti-Jadassohn syndrome [PATH:hsa04915]
     H00710  Erythrokeratodermia variabilis
     H00714  Vohwinkel syndrome
     H00715  Darier disease [PATH:hsa04020]
     H00716  Palmoplantar keratoderma with deafness
     H00717  Striate palmoplantar keratoderma
     H00722  Epidermolytic palmoplantar keratoderma
     H00723  Non-epidermolytic palmoplantar keratoderma
     H02263  Focal nonepidermolytic palmoplantar keratoderma
     H02264  Palmoplantar keratoderma, Nagashima type
     H02266  Palmoplantar keratoderma, Bothnian type
     H00750  Keratosis follicularis spinulosa decalvans
     H00755  Acrokeratosis verruciformis [PATH:hsa04020]
     H00781  Schopf-Schulz-Passarge syndrome
     H00790  Keratosis linearis with ichthyosis congenita and sclerosing keratoderma [PATH:hsa03050]
     H00791  Disseminated superficial actinic porokeratosis (DSAP)
     H00796  Dermatopathia pigmentosa reticularis
     H00799  CEDNIK syndrome [PATH:hsa04130]
     H00802  Ehlers-Danlos syndrome [PATH:hsa04510 hsa04512]
     H02241  Ehlers-Danlos syndrome cardiac valvular type [PATH:hsa04510 hsa04512 hsa04926]
     H02242  Ehlers-Danlos syndrome vascular type [PATH:hsa04926]
     H02243  Ehlers-Danlos syndrome arthrochalasia type [PATH:hsa04510 hsa04512 hsa04926]
     H02244  Ehlers-Danlos syndrome dermatospraxis type
     H02245  Ehlers-Danlos syndrome kyphoscoliosis type
     H02239  Ehlers-Danlos syndrome, spondylodysplastic type
     H02246  Ehlers-Danlos syndrome musculocontractural type [PATH:hsa00532]
     H02247  Ehlers-Danlos syndrome myopathic type
     H02240  Ehlers-Danlos syndrome periodontal type [PATH:hsa04610]
     H01902  Brittle cornea syndrome
     H00813  Laryngo onycho cutaneous syndrome [PATH:hsa04510 hsa04512]
     H00844  Familial benign chronic pemphigus
     H00893  Skin fragility-woolly hair syndrome
     H00949  Focal dermal hypoplasia [PATH:hsa04310]
     H01017  Choanal atresia and lymphedema
     H01404  Punctate palmoplantar keratoderma
     H01428  Xeroderma pigmentosum [PATH:hsa03420]
     H01579  Congenital symmetric circumferential skin creases
     H01933  Porokeratosis [PATH:hsa00900]
     H00667  Woolly hair [PATH:hsa04080]
     H00670  Monilethrix
     H00683  Anonychia congenita
     H00684  Pachyonychia congenita [PATH:hsa04915]
     H00858  Marie-Unna hereditary hypotrichosis
     H01896  Aplasia cutis congenita [PATH:hsa03008]
     H02083  Focal facial dermal dysplasia
     H02119  Proteus syndrome [PATH:hsa04151 hsa04150]
     H02167  Lymphedema-distichiasis syndrome
     H02168  Hypotrichosis-lymphedema-telangiectasia syndrome
     H02220  MEDNIK syndrome [PATH:hsa04142]
     H02295  Adermatoglyphia [PATH:hsa04550]
     H02296  Basan syndrome [PATH:hsa04550]
     H02417  Gingival fibromatosis with hypertrichosis [PATH:hsa02010]
   Other congenital malformations
 Other congenital disorders
 Other diseases

Last updated: November 20, 2020

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