Pathway-based Classification of Diseases

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 Carbohydrate metabolism
 
 Lipid/glycolipid metabolism
 
 Nucleotide metabolism
 
 Amino acid metabolism
 
 Glycan/glycoprotein metabolism
 
 Cofactor/vitamin metabolism
 
 Replication and repair
   nt06509  DNA replication
   nt06510  Telomere length regulation
   nt06504  Base excision repair
   nt06502  Nucleotide excision repair
   nt06503  Mismatch repair
   nt06506  Double-strand break repair
     H00005  Chronic lymphocytic leukemia
     H02418  Non-Hodgkin lymphoma
     H00019  Pancreatic cancer
     H00038  Melanoma
     H00031  Breast cancer
     H02531  Familial breast-ovarian cancer
     H01132  Aplastic anemia
     H00238  Fanconi anemia
     H00507  Dyskeratosis congenita
     H02569  Pulmonary fibrosis and/or bone marrow failure, telomere-related
     H00092  T-B-Severe combined immunodeficiency
     H01244  T+B+Severe combined immunodeficiencies (SCIDs)
     H02554  Omenn syndrome
     H00924  Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
     H02015  LIG4 syndrome
     H00064  Ataxia telangiectasia
     H00094  Immunodeficiency associated with DNA repair defects
     H00962  RIDDLE syndrome
     H01344  Nijmegen breakage syndrome
     H01346  Bloom syndrome
     H02014  Ataxia-telangiectasia-like syndrome
     H00768  Autosomal recessive intellectual developmental disorder
     H01395  Autosomal recessive progressive external ophthalmoplegia
     H00604  Deafness, autosomal dominant
     H00627  Premature ovarian failure
     H02492  Microcephaly, growth restriction, and increased sister chromatid exchange
     H00992  Seckel syndrome
     H01889  Meier-Gorlin syndrome
     H01733  Werner syndrome
     H02576  Familial cutaneous telangiectasia and cancer syndrome
     H02578  Short stature, microcephaly, and endocrine dysfunction
     H02639  Atelis syndrome
     H01623  MDPL syndrome
     H00296  Defects in RecQ helicases
   nt06508  Interstrand crosslink repair
 
 Signal transduction
 
 Cellular process
 
 Immune system
 
 Endocrine system

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Last updated: April 17, 2024

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