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
 
 Signal transduction
 
 Cellular process
   nt06523  Epigenetic regulation by Polycomb complexes
   nt06512  Chromosome cohesion and segregation
   nt06515  Regulation of kinetochore-microtubule interactions
   nt06534  Unfolded protein response
   nt06532  Autophagy
   nt06536  Mitophagy
   nt06535  Efferocytosis
     H01605  Myelofibrosis
     H00012  Polycythemia vera
     H02541  Juvenile myelomonocytic leukemia
     H00003  Acute myeloid leukemia
     H02664  Joint contracture, osteochondromas, and B-cell lymphoma
     H00232  Hereditary stomatocytosis
     H02658  X-linked congenital hemolytic anemia
     H00236  Congenital polycythemia
     H00223  Inherited thrombophilia
     H01235  Bleeding disorder platelet-type
     H00226  Glanzmann thrombasthenia
     H01162  Scott syndrome
     H01612  Essential thrombocythemia
     H00102  Classic complement pathway component defects
     H02467  Neonatal inflammatory skin and bowel disease
     H00084  Graft-versus-host disease
     H02669  Inflammatory bowel disease, immunodeficiency, and encephalopathy
     H01267  Familial hyperinsulinemic hypoglycemia
     H00186  Hyperargininemia
     H02086  Mitochondrial complex III deficiency
     H01248  Monocarboxylate transporter 1 deficiency
     H00148  Lysosomal acid lipase deficiency
     H00836  GLUT1 deficiency syndrome
     H00833  Neurodegeneration with brain iron accumulation
     H01108  CD36 deficiency
     H00159  Tangier disease
     H00930  Hypoalphalipoproteinemia
     H00057  Parkinson disease
     H00831  Primary dystonia
     H01204  Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ)
     H00056  Alzheimer disease
     H00679  Hypomyelinating leukodystrophy
     H00808  Idiopathic generalized epilepsies
     H00593  Limb-girdle muscular dystrophy
     H01810  Congenital myopathy
     H02321  Early-onset myopathy, areflexia, respiratory distress, and dysphagia
     H01965  Miyoshi muscular dystrophy
     H00527  Retinitis pigmentosa
     H00821  Age-related macular degeneration
     H00604  Deafness, autosomal dominant
     H02339  Auditory neuropathy
     H01742  Coronary artery disease
     H00079  Asthma
     H01191  Asthma with nasal polyps and aspirin intolerance
     H00218  Cystic fibrosis
     H00715  Darier disease
     H00755  Acrokeratosis verruciformis
     H02665  Reticulate acropigmentation of Kitamura
     H00750  Keratosis pilaris atrophicans
     H00630  Rheumatoid arthritis
     H01897  Oocyte/zygote/embryo maturation arrest
     H02559  Microvascular complications of diabetes
     H00434  Camurati-Engelmann disease
     H00498  Gnathodiaphyseal dysplasia
     H01018  Metachondromatosis
     H02294  Tatton-Brown-Rahman syndrome
     H01984  Leopard syndrome
   nt06524  Apoptosis
   nt06525  Ferroptosis
   nt06527  Necroptosis
   nt06529  Thermogenesis
 
 Immune system
 
 Endocrine system
   nt06310  CRH-ACTH-cortisol signaling
   nt06322  TRH-TSH-TH signaling
   nt06323  KISS1-GnRH-LH/FSH-E2 signaling
   nt06324  GHRH-GH-IGF signaling
   nt06318  CaSR-PTH signaling
   nt06316  Renin-angiotensin-aldosterone signaling
   nt06325  Hormone/cytokine signaling
     H00250  Congenital nongoitrous hypothyroidism (CHNG)
     H00408  Type 1 diabetes mellitus
     H00410  Maturity onset diabetes of the young (MODY)
     H01228  Insulin-resistant diabetes mellitus with acanthosis nigricans
     H00719  Leprechaunism
     H00942  Rabson-Mendenhall syndrome
     H01267  Familial hyperinsulinemic hypoglycemia
     H01388  Hyperprolactinemia
     H01294  Nephrogenic syndrome of inappropriate antidiuresis
     H00255  Hypogonadotropic hypogonadism
     H00253  Neurohypophyseal diabetes insipidus
     H02059  Leptin deficiency
     H02060  Leptin receptor deficiency
     H01193  Familial tumoral calcinosis
     H00967  Adiponectin deficiency
     H00214  Hypophosphatemic rickets
     H00240  Gitelman syndrome
     H01371  Hypercalcemia infantile
     H01293  Narcolepsy
     H00809  Familial epilepsy temporal lobe (ETL)
     H00265  Hereditary sensory and autonomic neuropathy
     H02674  Atrial standstill
     H00731  Atrial fibrillation
     H00801  Familial thoracic aortic aneurysm and dissection
     H00759  Waardenburg syndrome
     H01198  Fanconi renotubular syndrome
     H00243  Hyperkalemic distal renal tubular acidosis (RTA type 4)
     H00888  Nephrolithiasis/osteoporosis, hypophosphatemic
     H00512  Permanent neonatal diabetes mellitus
     H00910  Hirschsprung disease
     H02185  Spondylometaphyseal dysplasia
     H02543  Acromesomelic dysplasia
     H01884  Auriculocondylar syndrome
     H02679  Miura-type epiphyseal chondrodysplasia
     H02126  Mandibulofacial dysostosis with alopecia
     H00823  ABCD syndrome
     H02681  Short stature with nonspecific skeletal abnormalities
   nt06320  APOB-LDLR signaling

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Last updated: April 17, 2024

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