Human Diseases

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 Immune system diseases
   Allergies and autoimmune diseases
   Primary immunodeficiency
     H01725  Primary immunodeficiency disease
     H00085  Agammaglobulinemias [PATH:hsa05340]
     H00086  Hyper IgM syndromes, autosomal recessive type [PATH:hsa05340]
     H00087  Other humoral immunodeficiencies
     H02308  Immunodeficiency-centromeric instability-facial anomalies syndrome
     H00088  Common variable immunodeficiency [PATH:hsa05340]
     H00089  IFN-gamma/IL-12 axis
     H00090  NK cell defects [PATH:hsa04650]
     H00091  T-B+Severe combined immunodeficiency [PATH:hsa05340]
     H00092  T-B-Severe combined immunodeficiency [PATH:hsa05340]
     H01244  T+B+Severe combined immunodeficiencies (SCIDs)
     H00093  Combined immunodeficiency [PATH:hsa05340]
     H02309  Adenosine deaminase deficiency [PATH:hsa00230 hsa05340]
     H01128  Reticular dysgenesis [PATH:hsa00230]
     H00094  Immunodeficiency associated with DNA repair defects [PATH:hsa03440]
     H01344  Nijmegen syndrome [PATH:hsa03440 hsa03450]
     H02015  LIG4 syndrome [PATH:hsa03450]
     H00095  Ectodermal dysplasia associated immunodeficiency [PATH:hsa05340]
     H01245  Immunodeficiency without anhidrotic ectodermal dysplasia
     H00096  Defects of toll-like receptor signaling [PATH:hsa04620]
     H00097  Chemokine receptor defect [PATH:hsa04060]
     H00098  Chronic granulomatous disease [PATH:hsa04666]
     H00099  Leukocyte adhesion deficiency [PATH:hsa04670]
     H00100  Neutropenic disorders
     H00939  Darsun syndrome
     H01218  P14 deficiency
     H00101  Other phagocyte defects
     H02021  Chediak-Higashi syndrome
     H02022  Griscelli syndrome
     H02024  Neutrophil specific granule deficiency
     H02025  Myeloperoxidase deficiency [PATH:hsa04145]
     H00102  Classic complement pathway component defects [PATH:hsa04610]
     H00103  Late complement pathway defects [PATH:hsa04610]
     H00104  Alternative complement pathway component defects [PATH:hsa04610]
     H00105  Mannose-binding lectin pathway component defects [PATH:hsa04610]
     H00106  Complement regulatory protein defects [PATH:hsa04610]
     H00107  Other well-defined immunodeficiency syndromes [PATH:hsa05340]
     H00108  Autoimmune lymphoproliferative syndromes [PATH:hsa04210]
     H00109  Familial hemophagocytic lymphohistiocytosis
     H00924  Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation [PATH:hsa03450]
     H00984  Bare lymphocyte syndrome type1 [PATH:hsa02010 hsa04145 hsa04612 hsa05340]
     H00985  Bare lymphocyte syndrome type2 [PATH:hsa04612 hsa05340]
     H00931  Growth hormone insensitivity with immunodeficiency [PATH:hsa04012 hsa04062 hsa04630]
     H00962  RIDDLE syndrome
     H01181  T-cell immunodeficiency congenital alopecia and nail dystrophy
     H00721  Pyogenic bacterial infections, recurrent, due to MYD88 deficiency [PATH:hsa04210 hsa04620]
     H01240  Immune thrombocytopenia [PATH:hsa04145 hsa04380 hsa04666]
     H01387  Activated PI3K-delta syndrome [PATH:hsa00562 hsa04151 hsa04660 hsa04662 hsa04664 hsa04666 hsa04670]
     H01523  Wiskott-Aldrich syndrome [PATH:hsa04144 hsa04810]
     H01524  DiGeorge syndrome
     H01968  Hyper-IgE syndrome
     H01969  X-linked lymphoproliferative syndrome [PATH:hsa04650 hsa04210]
     H01970  Lymphoproliferative syndrome 1 [PATH:hsa04660]
     H01971  IPEX syndrome [PATH:hsa04659 hsa05321]
     H01972  Autoimmune polyendocrinopathy syndrome type 1 [PATH:hsa05340]
   Other 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
 Other congenital disorders
 Other diseases

Last updated: November 20, 2020

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