+C Disease #

  Pathway-based Classification of Diseases

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ACarbohydrate metabolism B nt06031 Citrate cycle and pyruvate metabolism C H01225 D-2-hydroxyglutaric aciduria C H01096 Pyruvate kinase deficiency C H00072 Pyruvate dehydrogenase complex deficiency C H01997 Pyruvate dehydrogenase E1-alpha deficiency C H01998 Pyruvate dehydrogenase E1-beta deficiency C H01999 Pyruvate dehydrogenase E2 deficiency C H02000 Dihydrolipoamide dehydrogenase deficiency C H00073 Pyruvate carboxylase deficiency C H02520 Phosphoenolpyruvate carboxykinase deficiency C H01022 Diseases of the tricarboxylic acid cycle C H02004 Fumarase deficiency C H02006 Alpha-ketoglutarate dehydrogenase complex deficiency C H02113 Infantile cerebellar-retinal degeneration C H02562 Yoon-Bellen neurodevelopmental syndrome C H02005 Mitochondrial complex II deficiency B nt06017 Glycogen metabolism C H00069 Glycogen storage disease C H01939 Glycogen storage disease type I C H01940 Glycogen storage disease type II C H01941 Glycogen storage disease type III C H01942 Glycogen storage disease type IV C H01943 Glycogen storage disease type V C H01944 Glycogen storage disease type VI C H01945 Glycogen storage disease type VII C H01946 Glycogen storage disease type XI C H01947 Fanconi-Bickel syndrome C H01949 Glycogen storage disease type 0b C H01950 Glycogen storage disease type 0a C H01951 Glycogen storage disease type X C H01952 Glycogen storage disease type XII C H01953 Glycogen storage disease type XIII C H01955 Glycogen storage disease type XV B nt06023 Galactose degradation C H00070 Galactosemia C H02008 Galactose-1P uridylyltransferase deficiency C H02009 Galactokinase deficiency C H02010 Galactose epimerase deficiency # ALipid/glycolipid metabolism B nt06020 beta-Oxidation in mitochondria C H01589 Systemic primary carnitine deficiency C H01981 Carnitine palmitoyltransferase I deficiency C H01982 Carnitine palmitoyltransferase II deficiency C H01983 Carnitine-acylcarnitine translocase deficiency C H00392 VLCAD deficiency C H00488 MCAD deficiency C H00489 LCHAD deficiency C H00525 Disorders of mitochondrial fatty-acid oxidation C H01352 Mitochondrial trifunctional protein deficiency C H01364 3-Hydroxyacyl-CoA dehydrogenase deficiency C H01980 SCAD deficiency B nt06021 beta-Oxidation in peroxisome C H02099 Alpha-methylacyl-CoA racemase deficiency C H00407 Peroxisomal beta-oxidation enzyme deficiency C H00874 Leukoencephalopathy with dystonia and motor neuropathy C H02096 Peroxisomal acyl-CoA oxidase deficiency C H02098 D-bifunctional protein deficiency B nt06034 Cholesterol biosynthesis C H01143 Vitamin D-dependent rickets C H00161 Smith-Lemli-Opitz syndrome C H00206 Mevalonate kinase deficiency C H00617 Desmosterolosis C H01281 Lathosterolosis C H01933 Porokeratosis C H02132 Microcephaly syndrome C H00447 HEM skeletal dysplasia C H00496 Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) C H01194 X-linked chondrodysplasia punctata C H02303 Alopecia-mental retardation syndrome C H01917 CK syndrome C H02248 MEND syndrome B nt06019 Steroid hormone biosynthesis C H00216 Congenital adrenal hyperplasia C H01111 Cortisone reductase deficiency C H00259 Apparent mineralocorticoid excess syndrome C H00258 Aldosterone synthase deficiency C H02314 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete C H01163 Corticosteroid-binding globulin (CBG) deficiency C H00794 Aromatase excess syndrome C H02020 Aromatase deficiency C H00607 46,XY gonadal dysgenesis C H00608 46,XY disorder of sex development due to testosterone secretion defect B nt06022 Bile acid biosynthesis C H00151 Cerebrotendinous xanthomatosis C H00628 Congenital bile acid synthesis defect B nt06014 Sphingolipid degradation C H00423 Sphingolipidosis C H00124 GM2 gangliosidoses C H00281 GM1 gangliosidosis C H02016 Tay-Sachs disease C H02017 Sandhoff disease C H00125 Fabry disease C H00127 Metachromatic leukodystrophy C H00126 Gaucher disease C H00137 Niemann-Pick disease type A/B C H00138 Farber lipogranulomatosis C H00135 Krabbe disease # ANucleotide metabolism B nt06027 Purine salvage pathway C H00194 Lesch-Nyhan syndrome C H00195 Adenine phosphoribosyltransferase deficiency # AAmino acid metabolism B nt06033 Glycine, serine and arginine metabolism C H01079 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency C H01082 Phosphoserine aminotransferase deficiency C H02116 Phosphoserine phosphatase deficiency C H01003 Dimethylglycine dehydrogenase deficiency C H00191 Nonketotic hyperglycinemia C H02657 Sarcosinemia C H00190 Hyperprolinemia C H00189 Ornithinaemia C H02919 Bachmann-Bupp syndrome C H01894 Multiple mitochondrial dysfunctions syndrome C H00849 Cerebral creatine deficiency syndrome C H02117 Neu-Laxova syndrome C H00597 Snyder-Robinson syndrome C H02918 Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities B nt06030 Methionine metabolism C H00182 Cystathioninuria C H00183 Homocystinuria C H00184 Hypermethioninemia B nt06024 Valine, leucine and isoleucine degradation C H00172 Maple syrup urine disease C H01279 Isobutyryl-CoA dehydrogenase deficiency C H02285 Methylmalonate semialdehyde dehydrogenase deficiency C H01349 Methacrylic aciduria C H00173 Isovaleric acidemia C H00174 Methylmalonic aciduria C H00175 Propionic acidemia C H00181 3-Methylcrotonylglycinuria C H00375 SBCAD deficiency C H00754 3-Methylglutaconic aciduria C H00925 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency C H00179 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency C H02000 Dihydrolipoamide dehydrogenase deficiency B nt06036 Lysine degradation C H01583 Hydroxykynureninuria C H00188 Hyperlysinemia C H01242 Saccharopinuria C H02644 Alpha-aminoadipic and alpha-ketoadipic aciduria C H00178 Glutaric acidemia C H01929 2,4-Dienoyl-CoA reductase deficiency C H01247 Pyridoxine-dependent epilepsy C H02087 Vertebral, cardiac, renal, and limb defects syndrome B nt06010 Urea cycle C H00187 Ornithine transcarbamylase deficiency C H01398 Primary hyperammonemia (Urea cycle disorders) C H01028 Argininosuccinic aciduria C H00164 Carbamoyl phosphate synthetase I deficiency C H00186 Hyperargininemia C H00185 Citrullinemia C H01032 N-acetylglutamate synthase deficiency B nt06037 Histidine metabolism C H01262 Formiminotransferase deficiency C H00171 Histidinemia C H01233 Urocanase deficiency C H00862 Tourette syndrome B nt06016 Phenylalanine and tyrosine metabolism C H00167 Phenylketonuria C H00163 Alkaptonuria C H00165 Tyrosinemia B nt06028 Dopamine and serotonin metabolism C H01005 Dopamine beta-hydroxylase deficiency C H01161 Aromatic L-amino acid decarboxylase deficiency C H02597 Sepiapterin reductase deficiency C H00548 Brunner syndrome C H01895 Attention deficit hyperactivity disorder (ADHD) C H01646 Major depressive disorder C H00057 Parkinson disease C H02557 Dopa-responsive dystonia C H02676 Infantile-onset parkinsonism-dystonia C H00168 Oculocutaneous albinism B nt06026 Glutathione biosynthesis C H00668 Anemia due to disorders of glutathione metabolism C H02313 5-Oxoprolinase deficiency C H02312 Glutathione synthetase deficiency C H01375 Glucose 6-phosphate dehydrogenase deficiency C H01825 Spondylometaphyseal dysplasia, Sedaghatian type # AGlycan/glycoprotein metabolism B nt06015 N-Glycan biosynthesis C H00118 Congenital disorders of glycosylation type I C H00119 Congenital disorders of glycosylation type II B nt06013 O-Glycan biosynthesis C H01959 Muscular dystrophy-dystroglycanopathy type C C H00120 Muscular dystrophy-dystroglycanopathy type A C H01960 Muscular dystrophy-dystroglycanopathy type B C H02307 Muscular dystrophy-dystroglycanopathy B nt06029 Glycosaminoglycan biosynthesis C H02491 Immunoskeletal dysplasia with neurodevelopmental abnormalities C H00255 Hypogonadotropic hypogonadism C H00768 Autosomal recessive intellectual developmental disorder C H00762 Spondyloepiphyseal dysplasia with congenital joint dislocations C H00122 Multiple exostoses C H01494 SEMD with joint laxity type C H00494 Desbuquois syndrome C H01498 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects C H01496 Spondyloocular syndrome C H02551 Skeletal dysplasia with joint laxity and advanced bone age C H01497 Temtamy preaxial brachydactyly syndrome C H02239 Ehlers-Danlos syndrome, spondylodysplastic type C H02246 Ehlers-Danlos syndrome musculocontractural type B nt06012 Glycosaminoglycan degradation C H00421 Mucopolysaccharidosis C H00128 Mucopolysaccharidosis type I C H00129 Mucopolysaccharidosis type II C H00123 Mucopolysaccharidosis type IV C H00131 Mucopolysaccharidosis type VI C H00130 Mucopolysaccharidosis type III C H00132 Mucopolysaccharidosis type VII C H00133 Mucopolysaccharidosis type IX B nt06018 GPI-anchor biosynthesis C H01486 Multiple congenital anomalies-hypotonia-seizures syndrome C H01487 CHIME syndrome C H01127 PIGM-congenital disorder of glycosylation C H01489 Inherited glycosylphosphatidylinositol deficiencies C H01485 Autosomal recessive mental retardation-42 C H01488 Hyperphosphatasia with mental retardation syndrome B nt06035 Blood group carbohydrate antigen biosynthesis C H00119 Congenital disorders of glycosylation type II # ACofactor/vitamin metabolism B nt06032 Lipoic acid metabolism C H02000 Dihydrolipoamide dehydrogenase deficiency C H02438 Hyperglycinemia, lactic acidosis, and seizures C H02518 Neonatal severe encephalopathy with lactic acidosis and brain abnormalities C H02643 Lipoyltransferase 1 deficiency B nt06038 Folate metabolism C H01197 Dihydrofolate reductase deficiency C H01262 Formiminotransferase deficiency C H01003 Dimethylglycine dehydrogenase deficiency C H02657 Sarcosinemia C H00262 Neural tube defects, folate-sensitive B nt06025 Molybdenum cofactor biosynthesis C H02311 Molybdenum cofactor deficiency C H00192 Xanthinuria B nt06011 Heme biosynthesis C H01763 Porphyria B nt06538 Cobalamin transport and metabolism C H01277 Vitamin B12 deficiency anaemia C H01190 Transcobalamin II deficiency C H00183 Homocystinuria C H00174 Methylmalonic aciduria C H02221 Methylmalonic aciduria and homocystinuria C H02222 Methylmalonic acidemia and hyperhomocysteinemia, cblX type C H00063 Spinocerebellar ataxia (SCA) C H00604 Deafness, autosomal dominant C H00262 Neural tube defects, folate-sensitive # AReplication and repair B nt06509 DNA replication C H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related C H02525 Disorders of innate immunity C H00093 Combined immunodeficiency C H00094 Immunodeficiency associated with DNA repair defects C H02014 Ataxia-telangiectasia-like syndrome C H02031 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia C H00290 Aicardi-Goutieres syndrome C H02484 X-linked reticulate pigmentary disorder with systemic manifestations C H00658 X-linked syndromic intellectual developmental disorder C H02342 Frontotemporal dementia and amyotrophic lateral sclerosis C H00264 Charcot-Marie-Tooth disease C H01118 Progressive external ophthalmoplegia C H00604 Deafness, autosomal dominant C H00564 Primary ciliary dyskinesia C H02366 Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome C H02840 Morimoto-Ryu-Malicdan neuromuscular syndrome C H00992 Seckel syndrome C H01993 Baller-Gerold syndrome C H01889 Meier-Gorlin syndrome C H01734 Rothmund-Thomson syndrome C H00965 RAPADILINO syndrome C H02369 IMAGE-I syndrome C H02370 FILS syndrome C H02625 Primordial dwarfism-immunodeficiency-lipodystrophy syndrome C H01623 MDPL syndrome B nt06510 Telomere length regulation C H00038 Melanoma C H02624 Tumor predisposition syndrome C H01132 Aplastic anemia C H00507 Dyskeratosis congenita C H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related C H02580 Hereditary sensory neuropathy with spastic paraplegia C H02251 Cerebroretinal microangiopathy with calcifications and cysts C H02843 Brain malformations and seizures by impaired function of TRiC B nt06504 Base excision repair C H00018 Gastric cancer C H02568 Polymerase proofreading-associated polyposis C H00021 Renal cell carcinoma C H01025 Familial adenomatous polyposis C H02624 Tumor predisposition syndrome C H00086 Immunodeficiency with hyper-IgM C H00091 T-B+Severe combined immunodeficiency C H00094 Immunodeficiency associated with DNA repair defects C H00469 Mitochondrial DNA depletion syndrome C H01390 Mitochondrial neurogastrointestinal encephalomyopathy C H01891 Autosomal recessive spinocerebellar ataxias C H02573 Autosomal recessive spinocerebellar ataxias with axonal neuropathy C H00848 Ataxia with ocular apraxia C H02572 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures C H01118 Progressive external ophthalmoplegia C H02366 Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome C H02369 IMAGE-I syndrome C H02370 FILS syndrome C H01623 MDPL syndrome B nt06502 Nucleotide excision repair C H00238 Fanconi anemia C H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related C H00091 T-B+Severe combined immunodeficiency C H00403 Disorders of nucleotide excision repair C H02014 Ataxia-telangiectasia-like syndrome C H02571 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities C H00866 Trichothiodystrophy C H02131 UV-sensitive syndrome C H01428 Xeroderma pigmentosum C H00076 Cockayne syndrome C H02570 Cerebro-oculo-facio-skeletal syndrome C H02560 White-Kernohan syndrome B nt06503 Mismatch repair C H00020 Colorectal cancer C H02565 Hereditary nonpolyposis colorectal cancer C H02568 Polymerase proofreading-associated polyposis C H00876 Mismatch repair deficiency C H02566 Muir-Torre syndrome C H01025 Familial adenomatous polyposis B nt06506 Double-strand break repair C H00005 Chronic lymphocytic leukemia C H02418 Non-Hodgkin lymphoma C H00019 Pancreatic cancer C H00038 Melanoma C H00031 Breast cancer C H02531 Familial breast-ovarian cancer C H01132 Aplastic anemia C H00238 Fanconi anemia C H00507 Dyskeratosis congenita C H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related C H00091 T-B+Severe combined immunodeficiency C H00092 T-B-Severe combined immunodeficiency C H01244 T+B+Severe combined immunodeficiencies (SCIDs) C H02554 Omenn syndrome C H00924 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation C H02015 LIG4 syndrome C H00064 Ataxia telangiectasia C H00094 Immunodeficiency associated with DNA repair defects C H00296 Defects in RecQ helicases C H00962 RIDDLE syndrome C H01344 Nijmegen breakage syndrome C H01346 Bloom syndrome C H02014 Ataxia-telangiectasia-like syndrome C H00768 Autosomal recessive intellectual developmental disorder C H01395 Autosomal recessive progressive external ophthalmoplegia C H00604 Deafness, autosomal dominant C H00627 Premature ovarian failure C H02492 Microcephaly, growth restriction, and increased sister chromatid exchange C H00992 Seckel syndrome C H01889 Meier-Gorlin syndrome C H01733 Werner syndrome C H02576 Familial cutaneous telangiectasia and cancer syndrome C H02578 Short stature, microcephaly, and endocrine dysfunction C H02639 Atelis syndrome C H01623 MDPL syndrome B nt06508 Interstrand crosslink repair C H00019 Pancreatic cancer C H00031 Breast cancer C H02531 Familial breast-ovarian cancer C H00238 Fanconi anemia C H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related C H00627 Premature ovarian failure C H02577 Karyomegalic interstitial nephritis C H00599 Ovarian dysgenesis C H00992 Seckel syndrome C H01428 Xeroderma pigmentosum C H00076 Cockayne syndrome C H02570 Cerebro-oculo-facio-skeletal syndrome C H02576 Familial cutaneous telangiectasia and cancer syndrome # ASignal transduction B nt06526 MAPK signaling C H00042 Glioma C H00004 Chronic myeloid leukemia C H02541 Juvenile myelomonocytic leukemia C H00003 Acute myeloid leukemia C H00018 Gastric cancer C H00020 Colorectal cancer C H00019 Pancreatic cancer C H00048 Hepatocellular carcinoma C H00014 Non-small cell lung cancer C H00013 Small cell lung cancer C H00038 Melanoma C H00039 Basal cell carcinoma C H00031 Breast cancer C H00026 Endometrial cancer C H00022 Bladder cancer C H00032 Thyroid cancer C H01592 Medullary thyroid cancer C H01510 Malignant paraganglioma C H01725 Primary immunodeficiency disease C H00255 Hypogonadotropic hypogonadism C H01250 Hereditary gingival fibromatosis C H02188 Watson syndrome C H02043 Capillary malformation-arteriovenous malformation C H00910 Hirschsprung disease C H00471 Split-hand/foot malformation C H02631 Melorheostosis C H02157 Short-rib thoracic dysplasia C H01756 Pfeiffer syndrome C H01754 Crouzon syndrome C H01755 Apert syndrome C H01753 Antley-Bixler syndrome C H01988 Jackson-Weiss syndrome C H01989 Beare-Stevenson syndrome C H01990 Muenke syndrome C H01991 Saethre-Chotzen syndrome C H00532 Parkes Weber syndrome C H01986 Legius syndrome C H02189 Neurofibromatosis-Noonan syndrome C H01437 Neurofibromatosis type 1 C H01738 Noonan syndrome C H00523 Noonan syndrome and related disorders C H00574 Coffin-Lowry syndrome C H01745 Cardiofaciocutaneous syndrome C H01747 Costello syndrome C H01984 Leopard syndrome C H02190 CBL syndrome C H02191 Noonan-like syndrome with loose anagen hair B nt06530 PI3K signaling C H00003 Acute myeloid leukemia C H00031 Breast cancer C H00093 Combined immunodeficiency C H01909 Hypoinsulinemic hypoglycemia with hemihypertrophy C H00773 Autosomal dominant intellectual developmental disorder C H00848 Ataxia with ocular apraxia C H01807 Hereditary diffuse leukoencephalopathy with spheroids C H00534 Cerebral cavernous malformation C H01282 Spermatogenic failure C H02647 Macrodactyly C H02627 Epidermal nevus C H02723 Macrocephaly/autism syndrome C H01885 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome C H01912 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi C H02119 Proteus syndrome C H02153 Megalencephaly-capillary malformation syndrome C H02297 CLAPO syndrome C H01222 Cowden syndrome C H02632 Houge-Janssens syndrome B nt06505 WNT signaling C H00113 Salmonellosis C H00041 Kaposi sarcoma C H00018 Gastric cancer C H00020 Colorectal cancer C H00048 Hepatocellular carcinoma C H00026 Endometrial cancer C H01307 Nonsyndromic congenital nail disorder C H01774 Hyperostosis corticalis generalisata C H02609 Craniodiaphyseal dysplasia C H01593 Osteoporosis C H01027 Microphthalmia C H00589 Familial exudative vitreoretinopathy C H00625 Tooth agenesis C H00482 Brachydactyly C H00471 Split-hand/foot malformation C H00636 Tetra-amelia syndrome C H00436 Osteopetrosis C H00486 Sclerosteosis C H00479 Metaphyseal dysplasias C H00485 Robinow syndrome C H02154 Omodysplasia C H00506 Osteogenesis imperfecta C H00451 Osteoporosis-pseudoglioma syndrome C H00853 Cenani-Lenz syndactyly syndrome C H00846 Fuhrmann syndrome C H00847 Al-Awadi/Raas-Rothschild syndrome C H00651 Hypohidrotic ectodermal dysplasia C H00646 Odontoonychodermal dysplasia C H00781 Schopf-Schulz-Passarge syndrome C H00857 Oligodontia-colorectal cancer syndrome C H00949 Focal dermal hypoplasia B nt06511 NOTCH signaling C H00030 Cervical cancer C H01910 Infantile myofibromatosis C H02467 Neonatal inflammatory skin and bowel disease C H00536 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy C H01757 Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy C H01216 Left ventricular noncompaction C H00681 Acne inversa C H00623 Hajdu-Cheney syndrome C H01893 Lateral meningocele syndrome C H00549 Tetralogy of Fallot C H00554 Aortic valve disease C H00551 Alagille syndrome C H00517 Spondylocostal dysostosis C H01413 Adams-Oliver syndrome B nt06501 HH signaling C H00039 Basal cell carcinoma C H00267 Holoprosencephaly C H00263 Acrocallosal syndrome C H01835 Neuronal migration disorder C H01027 Microphthalmia C H00482 Brachydactyly C H01852 Postaxial polydactyly C H02332 Preaxial polydactyly C H00530 Joubert syndrome and related disorders C H00675 Acrocapitofemoral dysplasia C H02158 Weyers acrofacial dysostosis C H02161 Greig cephalopolysyndactyly syndrome C H00503 Ellis-van Creveld syndrome C H00895 Basal cell nevus syndrome C H00502 Pallister-Hall syndrome C H00886 Donnai-Barrow syndrome C H01265 Hydrolethalus syndrome C H02479 Nivelon-Nivelon-Mabille syndrome B nt06507 TGFB signaling C H00009 Adult T-cell leukemia C H00020 Colorectal cancer C H00048 Hepatocellular carcinoma C H01023 Juvenile polyposis syndrome C H01024 Hereditary mixed polyposis syndrome C H00211 Hemochromatosis C H01619 Primary pulmonary hypertension C H00801 Familial thoracic aortic aneurysm and dissection C H00430 Fibrodysplasia ossificans progressiva C H02452 Muscle hypertrophy C H00625 Tooth agenesis C H00632 Heterotaxy C H00533 Hereditary hemorrhagic telangiectasia C H00599 Ovarian dysgenesis C H00482 Brachydactyly C H00484 Multiple synostosis syndrome C H00851 Proximal symphalangism C H00434 Camurati-Engelmann disease C H00900 Geleophysic dysplasia C H02543 Acromesomelic dysplasia C H00778 Tarsal-carpal coalition syndrome C H00653 Marfan syndrome C H00800 Loeys-Dietz syndrome C H00609 Persistent Mullerian duct syndrome C H02102 Myhre syndrome B nt06518 JAK-STAT signaling C H00368 Cytomegalovirus infection C H01109 Chronic mucocutaneous candidiasis C H01605 Myelofibrosis C H00008 Burkitt lymphoma C H00009 Adult T-cell leukemia C H00007 Hodgkin lymphoma C H00041 Kaposi sarcoma C H00054 Nasopharyngeal cancer C H00048 Hepatocellular carcinoma C H00236 Congenital polycythemia C H01612 Essential thrombocythemia C H02525 Disorders of innate immunity C H01725 Primary immunodeficiency disease C H00089 IFN-gamma/IL-12 axis C H00093 Combined immunodeficiency C H00091 T-B+Severe combined immunodeficiency C H01968 Hyper-IgE syndrome C H02540 Infantile-onset multisystem autoimmune disease C H02537 Autoinflammation, immune dysregulation, and eosinophilia C H00100 Neutropenic disorders C H01388 Hyperprolactinemia C H00931 Growth hormone insensitivity with immunodeficiency C H02035 Isolated growth hormone deficiency C H02037 Laron syndrome C H02059 Leptin deficiency C H02060 Leptin receptor deficiency C H01217 Primary localized cutaneous amyloidosis C H00935 Cold-induced sweating syndrome C H01122 Congenital pulmonary alveolar proteinosis C H01227 Inflammatory bowel disease (IBD) C H00840 Pseudo-TORCH syndrome C H00462 Stuve-Wiedemann syndrome B nt06516 TNF signaling C H00299 Shigellosis C H00278 Enteropathogenic Escherichia coli (EPEC) infection C H00277 Enterohemorrhagic Escherichia coli (EHEC) infection C H00113 Salmonellosis C H00365 Herpes simplex virus infection C H01563 HIV infection C H00368 Cytomegalovirus infection C H00008 Burkitt lymphoma C H00009 Adult T-cell leukemia C H00007 Hodgkin lymphoma C H00041 Kaposi sarcoma C H00054 Nasopharyngeal cancer C H00048 Hepatocellular carcinoma C H00030 Cervical cancer C H02525 Disorders of innate immunity C H02620 Autoinflammation with episodic fever and lymphadenopathy C H01725 Primary immunodeficiency disease C H00086 Immunodeficiency with hyper-IgM C H00088 Common variable immunodeficiency C H00093 Combined immunodeficiency C H01969 X-linked lymphoproliferative syndrome C H01970 Lymphoproliferative syndrome C H02592 Familial Behcet-like autoinflammatory syndrome C H02593 Chronic mucocutaneous ulceration C H00912 Tumor necrosis factor receptor-associated periodic syndrome C H01744 Polyglucosan body myopathy C H02414 Autoinflammation, panniculitis, and dermatosis syndrome C H01490 Multiple sclerosis C H00437 Paget disease of bone C H02042 Familial expansile osteolysis C H00625 Tooth agenesis C H00436 Osteopetrosis C H00651 Hypohidrotic ectodermal dysplasia C H00645 Incontinentia pigmenti C H00540 Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID) B nt06528 Calcium signaling C H00042 Glioma C H00048 Hepatocellular carcinoma C H00014 Non-small cell lung cancer C H02259 Stormorken syndrome C H00093 Combined immunodeficiency C H01603 Primary aldosteronism C H00144 Mucolipidosis IV C H00768 Autosomal recessive intellectual developmental disorder C H00773 Autosomal dominant intellectual developmental disorder C H02865 Neurodevelopmental disorder with or without hyperkinetic movements and seizures C H00749 Episodic ataxias C H00063 Spinocerebellar ataxia (SCA) C H01891 Autosomal recessive spinocerebellar ataxias C H00808 Idiopathic generalized epilepsies C H01514 Landau-Kleffner syndrome C H00606 Early infantile epileptic encephalopathy C H02150 Infantile or early childhood epileptic encephalopathy C H00775 Hemiplegic migraine C H00264 Charcot-Marie-Tooth disease C H01810 Congenital myopathy C H02258 Tubular aggregate myopathy C H02320 Vacuolar myopathy with CASQ1 aggregates C H00215 Periodic paralysis C H01129 Brody myopathy C H00481 Cone-rod dystrophy and cone dystrophy C H00690 Aland Island eye disease C H00787 Congenital stationary night blindness C H00604 Deafness, autosomal dominant C H00605 Deafness, autosomal recessive C H00294 Dilated cardiomyopathy C H00292 Hypertrophic cardiomyopathy C H00293 Arrhythmogenic right ventricular cardiomyopathy C H00720 Long QT syndrome C H00728 Brugada syndrome C H01019 Catecholaminergic polymorphic ventricular tachycardia C H02636 Sinoatrial node dysfunction and deafness C H00801 Familial thoracic aortic aneurysm and dissection C H00715 Darier disease C H00755 Acrokeratosis verruciformis C H01307 Nonsyndromic congenital nail disorder C H02281 Isolated anhidrosis with normal sweat glands C H01869 Megacystis microcolon intestinal hypoperistalsis syndrome C H02641 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development C H02856 Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures C H02858 Neurodevelopmental disorder with speech impairment and with or without seizures C H02859 Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements B nt06522 mTOR signaling C H00365 Herpes simplex virus infection C H00368 Cytomegalovirus infection C H01692 Subependymal giant cell astrocytoma C H00030 Cervical cancer C H01691 Renal angiomyolipoma C H01210 Hypomagnesemia C H02214 Familial focal epilepsy with variable foci C H02697 Long-Olsen-Distelmaier syndrome C H00896 Lymphangioleiomyomatosis C H02446 Autosomal recessive macrocephaly/megalencephaly syndrome C H01251 Focal cortical dysplasia of Taylor C H00818 Birt-Hogg-Dube syndrome C H00666 Peutz-Jeghers syndrome C H00915 Tuberous sclerosis complex C H01928 Smith-Kingsmore syndrome C H01112 Polyhydramnios, megalencephaly, and symptomatic epilepsy B nt06542 HIF signaling C H00021 Renal cell carcinoma C H00236 Congenital polycythemia C H00559 von Hippel-Lindau syndrome B nt06543 NRG-ERBB signaling C H00019 Pancreatic cancer C H00014 Non-small cell lung cancer C H00058 Amyotrophic lateral sclerosis (ALS) # ACellular process B nt06523 Epigenetic regulation by Polycomb complexes C H01481 Myelodysplastic syndrome C H01510 Malignant paraganglioma C H02624 Tumor predisposition syndrome C H02222 Methylmalonic acidemia and hyperhomocysteinemia, cblX type C H00480 X-linked intellectual developmental disorder C H00773 Autosomal dominant intellectual developmental disorder C H02490 Gabriele-de Vries syndrome C H00627 Premature ovarian failure C H00269 Primary microcephaly C H02170 Microphthalmia, syndromic C H02047 Bohring-Opitz syndrome C H01751 Weaver syndrome C H02477 Cohen-Gibson syndrome C H02522 Imagawa-Matsumoto syndrome C H00504 Rubinstein-Taybi syndrome C H00907 Kleefstra syndrome C H02382 Bainbridge-Ropers syndrome C H02619 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome C H02650 Menke-Hennekam syndrome C H02528 Hao-Fountain syndrome C H02587 Luo-Schoch-Yamamoto syndrome C H02611 Turnpenny-Fry syndrome C H02617 Bryant-Li-Bhoj neurodevelopmental syndrome C H02618 Developmental delay with variable intellectual disability and dysmorphic facies C H02622 Shukla-Vernon syndrome C H02623 Kury-Isidor syndrome C H02635 Poirier-Bienvenu neurodevelopmental syndrome C H02854 Okur-Chung neurodevelopmental syndrome C H02855 Shashi-Pena syndrome B nt06512 Chromosome cohesion and segregation C H00014 Non-small cell lung cancer C H00013 Small cell lung cancer C H01752 ATR-X syndrome C H02308 Immunodeficiency-centromeric instability-facial anomalies syndrome C H00480 X-linked intellectual developmental disorder C H00773 Autosomal dominant intellectual developmental disorder C H00606 Early infantile epileptic encephalopathy C H00591 Facioscapulohumeral muscular dystrophy C H02122 Chronic atrial and intestinal dysrhythmia C H00269 Primary microcephaly C H00267 Holoprosencephaly C H02707 Khan-Khan-Katsanis syndrome C H01734 Rothmund-Thomson syndrome C H00572 Roberts-SC phocomelia syndrome C H00631 Cornelia de Lange syndrome C H00914 Warsaw breakage syndrome C H02581 Juberg-Hayward syndrome C H02582 Mullegama-Klein-Martinez syndrome C H02583 X-linked intellectual disability-hypotonic facies syndrome C H02584 Ferguson-Bonni neurodevelopmental syndrome C H02632 Houge-Janssens syndrome C H02854 Okur-Chung neurodevelopmental syndrome B nt06515 Regulation of kinetochore-microtubule interactions C H00020 Colorectal cancer C H00024 Prostate cancer C H01740 Macrothrombocytopenia C H02585 Roifman-Chitayat syndrome C H00773 Autosomal dominant intellectual developmental disorder C H00879 Perry syndrome C H00831 Primary dystonia C H00679 Hypomyelinating leukodystrophy C H00058 Amyotrophic lateral sclerosis (ALS) C H00455 Spinal muscular atrophy C H00856 Distal hereditary motor neuropathies C H02594 Congenital facial palsy with ptosis and velopharyngeal dysfunction C H00264 Charcot-Marie-Tooth disease C H00789 Keratoconus C H01880 Autosomal recessive microcephaly and chorioretinopathy C H00837 Leber congenital amaurosis C H00838 Congenital fibrosis of the extraocular muscles C H01897 Oocyte/zygote/embryo maturation arrest C H00269 Primary microcephaly C H01881 Complex cortical dysplasia with other brain malformations C H01870 Microhydranencephaly C H00268 Lissencephaly C H02606 Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures C H02157 Short-rib thoracic dysplasia C H01814 Stromme syndrome C H02595 Oculoskeletodental syndrome C H02607 Short stature and microcephaly with genital anomalies C H01288 Mosaic variegated aneuploidy syndrome C H02857 Neurodevelopmental disorder with microcephaly and structural brain anomalies C H01579 Congenital symmetric circumferential skin creases B nt06534 Unfolded protein response C H00057 Parkinson disease C H00056 Alzheimer disease C H00058 Amyotrophic lateral sclerosis (ALS) C H00061 Prion disease B nt06532 Autophagy C H00299 Shigellosis C H00041 Kaposi sarcoma C H00150 Danon disease C H00833 Neurodegeneration with brain iron accumulation C H00831 Primary dystonia C H00063 Spinocerebellar ataxia (SCA) C H01891 Autosomal recessive spinocerebellar ataxias C H00679 Hypomyelinating leukodystrophy C H00810 Progressive myoclonic epilepsy C H00058 Amyotrophic lateral sclerosis (ALS) C H02342 Frontotemporal dementia and amyotrophic lateral sclerosis C H00264 Charcot-Marie-Tooth disease C H00265 Hereditary sensory and autonomic neuropathy C H00594 Distal myopathy C H00612 Primary open angle glaucoma C H01227 Inflammatory bowel disease (IBD) C H00437 Paget disease of bone C H01282 Spermatogenic failure C H00799 CEDNIK syndrome C H02861 Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures B nt06536 Mitophagy C H00469 Mitochondrial DNA depletion syndrome C H00658 X-linked syndromic intellectual developmental disorder C H01600 Parkinsonian syndrome C H00057 Parkinson disease C H00058 Amyotrophic lateral sclerosis (ALS) C H02342 Frontotemporal dementia and amyotrophic lateral sclerosis C H00264 Charcot-Marie-Tooth disease C H00594 Distal myopathy C H01020 Optic atrophy C H00612 Primary open angle glaucoma C H00437 Paget disease of bone B nt06535 Efferocytosis C H01605 Myelofibrosis C H00012 Polycythemia vera C H00003 Acute myeloid leukemia C H02664 Joint contracture, osteochondromas, and B-cell lymphoma C H00232 Hereditary stomatocytosis C H02658 X-linked congenital hemolytic anemia C H00236 Congenital polycythemia C H00223 Inherited thrombophilia C H01235 Bleeding disorder platelet-type C H01108 CD36 deficiency C H00226 Glanzmann thrombasthenia C H01162 Scott syndrome C H01612 Essential thrombocythemia C H00102 Classic complement pathway component defects C H02467 Neonatal inflammatory skin and bowel disease C H00084 Graft-versus-host disease C H02669 Inflammatory bowel disease, immunodeficiency, and encephalopathy C H01267 Familial hyperinsulinemic hypoglycemia C H00186 Hyperargininemia C H02086 Mitochondrial complex III deficiency C H01248 Monocarboxylate transporter 1 deficiency C H00148 Lysosomal acid lipase deficiency C H00836 GLUT1 deficiency syndrome C H00833 Neurodegeneration with brain iron accumulation C H00159 Tangier disease C H00930 Hypoalphalipoproteinemia C H00057 Parkinson disease C H00831 Primary dystonia C H01204 Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) C H00056 Alzheimer disease C H00679 Hypomyelinating leukodystrophy C H00808 Idiopathic generalized epilepsies C H00593 Limb-girdle muscular dystrophy C H01810 Congenital myopathy C H02321 Early-onset myopathy, areflexia, respiratory distress, and dysphagia C H01965 Miyoshi muscular dystrophy C H00527 Retinitis pigmentosa C H00821 Age-related macular degeneration C H00604 Deafness, autosomal dominant C H02339 Auditory neuropathy C H01742 Coronary artery disease C H00079 Asthma C H01191 Asthma with nasal polyps and aspirin intolerance C H00218 Cystic fibrosis C H00715 Darier disease C H00755 Acrokeratosis verruciformis C H02665 Reticulate acropigmentation of Kitamura C H00750 Keratosis pilaris atrophicans C H00630 Rheumatoid arthritis C H01897 Oocyte/zygote/embryo maturation arrest C H02559 Microvascular complications of diabetes C H00434 Camurati-Engelmann disease C H00498 Gnathodiaphyseal dysplasia C H01018 Metachondromatosis C H02294 Tatton-Brown-Rahman syndrome B nt06524 Apoptosis C H00299 Shigellosis C H00278 Enteropathogenic Escherichia coli (EPEC) infection C H00277 Enterohemorrhagic Escherichia coli (EHEC) infection C H00365 Herpes simplex virus infection C H01563 HIV infection C H00368 Cytomegalovirus infection C H00398 Influenza C H00008 Burkitt lymphoma C H00007 Hodgkin lymphoma C H00041 Kaposi sarcoma C H00054 Nasopharyngeal cancer C H00020 Colorectal cancer C H00048 Hepatocellular carcinoma C H00013 Small cell lung cancer C H00030 Cervical cancer C H02610 Head and neck squamous cell carcinoma C H00978 Thrombocytopenia (THC) C H00108 Autoimmune lymphoproliferative syndromes B nt06525 Ferroptosis C H01145 Atransferrinemia C H01196 Hypochromic microcytic anemia C H02206 Aceruloplasminemia C H00668 Anemia due to disorders of glutathione metabolism C H02312 Glutathione synthetase deficiency C H00833 Neurodegeneration with brain iron accumulation C H00211 Hemochromatosis C H01938 Hypermanganesemia with dystonia C H00480 X-linked intellectual developmental disorder C H01825 Spondylometaphyseal dysplasia, Sedaghatian type B nt06527 Necroptosis C H02536 Infection-induced acute encephalopathy C H02610 Head and neck squamous cell carcinoma C H00827 Brooke-Spiegler syndrome C H00828 Familial cylindromatosis C H00829 Multiple familial trichoepithelioma C H02525 Disorders of innate immunity C H02620 Autoinflammation with episodic fever and lymphadenopathy C H01725 Primary immunodeficiency disease C H00108 Autoimmune lymphoproliferative syndromes C H01969 X-linked lymphoproliferative syndrome C H00912 Tumor necrosis factor receptor-associated periodic syndrome C H01490 Multiple sclerosis C H02342 Frontotemporal dementia and amyotrophic lateral sclerosis C H00821 Age-related macular degeneration B nt06529 Thermogenesis C H02106 Genetic obesity C H01369 ATP synthase deficiency C H00473 Mitochondrial complex I deficiency C H01368 Cytochrome c oxidase (COX) deficiency C H02005 Mitochondrial complex II deficiency C H02086 Mitochondrial complex III deficiency B nt06539 Cytoskeleton in muscle cells C H01133 Reynolds syndrome C H00234 Pelger-Huet anomaly C H00420 Familial partial lipodystrophy C H00831 Primary dystonia C H01255 Juvenile-onset dystonia C H01230 Adult-onset autosomal dominant leukodystrophy C H00810 Progressive myoclonic epilepsy C H00877 Brain small vessel disease C H02718 Autosomal dominant pontine microangiopathy and leukoencephalopathy C H00266 Hereditary spastic paraplegia C H00798 Familial carpal tunnel syndrome C H00264 Charcot-Marie-Tooth disease C H00770 Congenital myasthenic syndrome C H00562 Dystrophinopathies C H00563 Emery-Dreifuss muscular dystrophy C H00593 Limb-girdle muscular dystrophy C H00656 Scapuloperoneal myopathy C H00590 Congenital muscular dystrophies (CMD/MDC) C H01341 Collagen VI myopathy C H01958 Merosin-deficient congenital muscular dystrophy C H02307 Muscular dystrophy-dystroglycanopathy C H00697 X-linked myopathy with postural muscle atrophy C H02721 Scapulohumeroperoneal myopathy C H01777 Schwartz-Jampel syndrome C H01810 Congenital myopathy C H00698 Nemaline myopathy C H00657 Reducing body myopathy C H00594 Distal myopathy C H00595 Myofibrillar myopathies C H00958 Congenital stromal corneal dystrophy C H00805 Vitreoretinal degeneration C H00604 Deafness, autosomal dominant C H00605 Deafness, autosomal recessive C H01209 Deafness, X-linked C H02339 Auditory neuropathy C H00294 Dilated cardiomyopathy C H00292 Hypertrophic cardiomyopathy C H01219 Restrictive cardiomyopathy C H00293 Arrhythmogenic right ventricular cardiomyopathy C H00669 Naxos disease C H02094 Carvajal syndrome C H01216 Left ventricular noncompaction C H00729 Sick sinus syndrome C H00731 Atrial fibrillation C H02719 Multifocal fibromuscular dysplasia C H00801 Familial thoracic aortic aneurysm and dissection C H02553 Visceral myopathy C H00717 Striate palmoplantar keratoderma C H00584 Epidermolysis bullosa simplex C H00586 Epidermolysis bullosa, junctional C H01737 Epidermolysis bullosa C H00557 Cutis laxa C H00663 Restrictive dermopathy C H01173 Stiff skin syndrome C H02539 Intervertebral disc disease C H01593 Osteoporosis C H00582 Benign familial hematuria C H00269 Primary microcephaly C H00271 Polymicrogyria C H00553 Congenital supravalvular aortic stenosis C H00546 Atrial septal defect C H00459 Synpolydactyly C H02716 Becker nevus syndrome C H00673 Weill-Marchesani syndrome C H00579 Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) C H00613 Infantile cortical hyperostosis C H02079 Oto-spondylo-megaepiphyseal dysplasia C H02080 Fibrochondrogenesis C H02155 Dyssegmental dysplasia C H02187 Spondyloepimetaphyseal dysplasia C H02185 Spondylometaphyseal dysplasia C H02732 Rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly C H00477 Pseudoachondroplasia C H00476 Multiple epiphyseal dysplasia C H00900 Geleophysic dysplasia C H02228 Acromicric dysplasia C H00506 Osteogenesis imperfecta C H02299 Arthrogryposis multiplex congenita C H00811 Distal arthrogryposis C H00865 Lethal congenital contractural syndrome C H02717 Contractures, pterygia, and spondylocarpotarsal fusion syndrome C H02081 Marshall syndrome C H00665 Mandibuloacral dysplasia C H00653 Marfan syndrome C H02720 Meester-Loeys syndrome C H00802 Ehlers-Danlos syndrome C H02241 Ehlers-Danlos syndrome cardiac valvular type C H02242 Ehlers-Danlos syndrome vascular type C H02243 Ehlers-Danlos syndrome arthrochalasia type C H02724 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome C H00601 Hutchinson-Gilford progeria syndrome C H01869 Megacystis microcolon intestinal hypoperistalsis syndrome C H02023 Baraitser-Winter syndrome C H02072 Stickler syndrome C H02725 Heart-hand syndrome C H02953 Uruguay facio-cardio-musculo-skeletal syndrome C H00581 Alport syndrome C H01260 Glomerulopathy with fibronectin deposits B nt06541 Cytoskeleton in neurons C H01025 Familial adenomatous polyposis C H00917 Congenital dyserythropoietic anemia C H00233 MYH9-related disease C H01740 Macrothrombocytopenia C H00255 Hypogonadotropic hypogonadism C H00624 Progressive familial intrahepatic cholestasis C H00768 Autosomal recessive intellectual developmental disorder C H00773 Autosomal dominant intellectual developmental disorder C H00077 Progressive supranuclear palsy C H00879 Perry syndrome C H00831 Primary dystonia C H01255 Juvenile-onset dystonia C H02819 Neonatal intractable myoclonus C H01287 Congenital mirror movements C H00679 Hypomyelinating leukodystrophy C H00606 Early infantile epileptic encephalopathy C H00266 Hereditary spastic paraplegia C H01351 Spastic ataxia C H02114 Spastic paraplegia, optic atrophy, and neuropathy C H00058 Amyotrophic lateral sclerosis (ALS) C H00455 Spinal muscular atrophy C H00856 Distal hereditary motor neuropathies C H02594 Congenital facial palsy with ptosis and velopharyngeal dysfunction C H00264 Charcot-Marie-Tooth disease C H00265 Hereditary sensory and autonomic neuropathy C H01259 Giant axonal neuropathy C H01810 Congenital myopathy C H01097 Spastic quadriplegic cerebral palsy C H00789 Keratoconus C H01768 Central areolar choroidal dystrophy C H00527 Retinitis pigmentosa C H00814 Vitelliform macular dystrophy C H00837 Leber congenital amaurosis C H01890 Pattern dystrophies of the retinal pigment epithelium C H02513 Oculopharyngodistal myopathy C H00838 Congenital fibrosis of the extraocular muscles C H02450 Horizontal gaze palsy with progressive scoliosis C H00604 Deafness, autosomal dominant C H00605 Deafness, autosomal recessive C H01633 High blood pressure C H02022 Griscelli syndrome C H00584 Epidermolysis bullosa simplex C H00627 Premature ovarian failure C H01897 Oocyte/zygote/embryo maturation arrest C H01174 Congenital diarrhea C H00269 Primary microcephaly C H01881 Complex cortical dysplasia with other brain malformations C H00270 Periventricular nodular heterotopia C H01870 Microhydranencephaly C H02716 Becker nevus syndrome C H00897 Pontocerebellar hypoplasia C H00268 Lissencephaly C H02157 Short-rib thoracic dysplasia C H00458 Syndromic craniosynostoses C H02023 Baraitser-Winter syndrome C H02663 Braddock-Carey syndrome C H00465 Fragile X syndrome C H01731 Fragile X tremor/ataxia syndrome C H02685 Developmental delay with neuropsychiatric disorders C H02688 Dworschak-Punetha neurodevelopmental syndrome C H02857 Neurodevelopmental disorder with microcephaly and structural brain anomalies C H02862 Neurodevelopmental disorder with or without variable brain abnormalities C H02863 Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter C H02864 Neurodevelopmental disorder with or without autism or seizures C H01579 Congenital symmetric circumferential skin creases B nt06544 Neuroactive ligand signaling C H01235 Bleeding disorder platelet-type C H00420 Familial partial lipodystrophy C H00255 Hypogonadotropic hypogonadism C H02773 Menstrual cycle-dependent periodic fever C H02105 Prohormone convertase 1/3 deficiency C H02106 Genetic obesity C H02419 Glycine encephalopathy with normal serum glycine C H02311 Molybdenum cofactor deficiency C H00923 Congenital systemic glutamine deficiency C H02846 Global developmental delay, progressive ataxia, and elevated glutamine C H02847 CASGID syndrome C H01161 Aromatic L-amino acid decarboxylase deficiency C H00548 Brunner syndrome C H01257 GABA-transaminase deficiency C H00480 X-linked intellectual developmental disorder C H00658 X-linked syndromic intellectual developmental disorder C H00768 Autosomal recessive intellectual developmental disorder C H00773 Autosomal dominant intellectual developmental disorder C H02111 Autism C H01895 Attention deficit hyperactivity disorder (ADHD) C H02865 Neurodevelopmental disorder with or without hyperkinetic movements and seizures C H01649 Schizophrenia C H01646 Major depressive disorder C H01450 Obsessive-compulsive disorder C H01611 Alcohol dependence C H02849 Familial natural short sleep C H02557 Dopa-responsive dystonia C H02676 Infantile-onset parkinsonism-dystonia C H00749 Episodic ataxias C H00063 Spinocerebellar ataxia (SCA) C H01891 Autosomal recessive spinocerebellar ataxias C H01577 Essential tremor C H00862 Tourette syndrome C H00808 Idiopathic generalized epilepsies C H02889 X-linked epilepsy-2 with or without impaired intellectual development and dysmorphic features C H01819 Early myoclonic encephalopathy C H02215 Childhood absence epilepsy C H02564 Generalized epilepsy with febrile seizures plus C H00807 Nocturnal frontal lobe epilepsy C H01514 Landau-Kleffner syndrome C H00606 Early infantile epileptic encephalopathy C H00783 Febrile seizures C H00775 Hemiplegic migraine C H00266 Hereditary spastic paraplegia C H00856 Distal hereditary motor neuropathies C H00264 Charcot-Marie-Tooth disease C H00770 Congenital myasthenic syndrome C H01031 Orthostatic intolerance C H00787 Congenital stationary night blindness C H00604 Deafness, autosomal dominant C H00605 Deafness, autosomal recessive C H02751 Orthostatic hypotension C H02895 Lodder-Merla syndrome C H01933 Porokeratosis C H01256 Foveal hypoplasia C H02796 Autonomic bladder dysfunction with impaired pupillary reflex and secondary CAKUT C H02236 Keppen-Lubinsky syndrome C H02129 Prune belly syndrome C H00756 Pitt-Hopkins syndrome C H01238 Phelan-McDermid syndrome C H00769 Hyperekplexia C H02859 Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements C H02885 Neurodevelopmental disorder with hypotonia and dysmorphic facies C H02886 Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities C H02887 Neurodevelopmental disorder with language impairment and behavioral abnormalities C H02888 Neurodevelopmental disorder with or without seizures and gait abnormalities C H02890 Neurodevelopmental disorder with language delay and variable cognitive abnormalities C H02891 Neurodevelopmental disorder with poor language and loss of hand skills C H02892 Neurodevelopmental disorder with infantile epileptic spasms C H02894 Neurodevelopmental disorder with impaired language and ataxia and with or without seizures B nt06546 IgSF CAM signaling C H00342 Tuberculosis C H01563 HIV infection C H00361 Malaria C H02541 Juvenile myelomonocytic leukemia C H00017 Esophageal cancer C H00020 Colorectal cancer C H00039 Basal cell carcinoma C H00032 Thyroid cancer C H00222 Congenital fibrinogen deficiency C H01235 Bleeding disorder platelet-type C H00226 Glanzmann thrombasthenia C H00233 MYH9-related disease C H00093 Combined immunodeficiency C H01969 X-linked lymphoproliferative syndrome C H02036 Combined pituitary hormone deficiency C H00624 Progressive familial intrahepatic cholestasis C H01185 Cerebral amyloid angiopathy C H00845 Familial amyloidosis C H00480 X-linked intellectual developmental disorder C H00768 Autosomal recessive intellectual developmental disorder C H00773 Autosomal dominant intellectual developmental disorder C H02111 Autism C H01882 Asperger syndrome C H00864 Trichotillomania C H01574 Familial idiopathic basal ganglia calcification C H00749 Episodic ataxias C H00063 Spinocerebellar ataxia (SCA) C H01891 Autosomal recessive spinocerebellar ataxias C H00862 Tourette syndrome C H02789 Familial myoclonus C H01287 Congenital mirror movements C H00056 Alzheimer disease C H02980 Cognitive impairment with or without cerebellar ataxia C H00806 Benign familial neonatal seizure C H02213 Familial adult myoclonic epilepsy C H00606 Early infantile epileptic encephalopathy C H02362 Benign familial infantile seizure C H00266 Hereditary spastic paraplegia C H02178 MASA syndrome C H00856 Distal hereditary motor neuropathies C H01436 Guillain-Barre syndrome C H02357 Congenital hypomyelinating neuropathy C H00264 Charcot-Marie-Tooth disease C H01155 Roussy-Levy syndrome C H01296 Hereditary neuropathy with liability to pressure palsies C H02359 Dejerine-Sottas disease C H02817 Peripheral neuropathy, myopathy, hoarseness, and hearing loss C H01777 Schwartz-Jampel syndrome C H01810 Congenital myopathy C H00594 Distal myopathy C H02989 Developmental delay with or without epilepsy C H02450 Horizontal gaze palsy with progressive scoliosis C H00776 Congenital motor nystagmus (CMN) C H00604 Deafness, autosomal dominant C H00605 Deafness, autosomal recessive C H00294 Dilated cardiomyopathy C H00292 Hypertrophic cardiomyopathy C H00720 Long QT syndrome C H01935 Familial hypercholanemia C H00630 Rheumatoid arthritis C H01657 Nephrotic syndrome C H01037 Vesicoureteral reflux C H01477 Congenital short bowel syndrome C H02458 Hydrocephalus due to congenital stenosis of aqueduct of Sylvius C H00516 Cleft lip and/or cleft palate C H00554 Aortic valve disease C H02043 Capillary malformation-arteriovenous malformation C H02811 Aplasia or hypoplasia of the breasts and/or nipples C H01921 MICPCH syndrome C H02132 Microcephaly syndrome C H01034 L1 syndrome C H02155 Dyssegmental dysplasia C H01828 Opsismodysplasia C H02154 Omodysplasia C H01008 C syndrome C H00865 Lethal congenital contractural syndrome C H02456 Ectodermal dysplasia C H00647 Ectodermal dysplasia-syndactyly syndrome C H01215 Simpson-Golabi-Behmel syndrome C H01738 Noonan syndrome C H00756 Pitt-Hopkins syndrome C H00894 FG syndrome C H01869 Megacystis microcolon intestinal hypoperistalsis syndrome C H01984 Leopard syndrome C H02074 Knobloch syndrome C H02667 Takenouchi-Kosaki syndrome C H02981 Neurooculorenal syndrome C H02982 Congenital heart defects and skeletal malformations syndrome C H02326 Keipert syndrome C H02355 Deafness and myopia C H02397 Neurodevelopmental disorder with movement abnormalities or hypotonia C H02459 Syndromic neurodevelopmental disorder C H02463 Syndromic intellectual developmental disorder C H02685 Developmental delay with neuropsychiatric disorders C H02911 Paul-Chao neurodevelopmental syndrome C H02988 Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity C H00626 Focal segmental glomerulosclerosis C H00099 Leukocyte adhesion deficiency C H01301 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts B nt06545 Cornified envelope formation C H00171 Histidinemia C H00736 Dorfman-Chanarin syndrome C H00126 Gaucher disease C H00063 Spinocerebellar ataxia (SCA) C H00266 Hereditary spastic paraplegia C H00058 Amyotrophic lateral sclerosis (ALS) C H00265 Hereditary sensory and autonomic neuropathy C H00819 Stargardt disease C H00294 Dilated cardiomyopathy C H00293 Arrhythmogenic right ventricular cardiomyopathy C H00669 Naxos disease C H02094 Carvajal syndrome C H02648 Acantholytic blistering of the oral and laryngeal mucosa C H01358 Atopic dermatitis C H00735 Ichthyosis vulgaris C H00733 Harlequin ichthyosis C H00734 Autosomal recessive congenital ichthyosis C H00691 Bullous congenital ichthyosiform erythroderma (BCIE) C H00693 Ichthyosis bullosa of Siemens C H00707 Ichthyosis hystrix C H02265 Annular epidermolytic ichthyosis C H00710 Erythrokeratodermia variabilis C H00738 Ichthyosis with confetti C H02449 Autosomal dominant lamellar ichthyosis C H00737 Peeling skin syndrome C H00714 Vohwinkel syndrome C H00722 Epidermolytic palmoplantar keratoderma C H00717 Striate palmoplantar keratoderma C H01796 Uncombable hair syndrome C H00784 Localized autosomal recessive hypotrichosis C H00644 Ectodermal dysplasia/skin fragility syndrome C H00739 Ichthyosis with hypotrichosis C H00741 Ichthyosis prematurity syndrome C H02675 Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features C H02935 Ichthyosis, spastic quadriplegia, and impaired intellectual development # AImmune system B nt06513 Complement cascade C H00365 Herpes simplex virus infection C H00041 Kaposi sarcoma C H01434 Atypical hemolytic uremic syndrome C H00104 Alternative complement pathway component defects C H00102 Classic complement pathway component defects C H00103 Late complement pathway defects C H00105 Mannose-binding lectin pathway component defects C H00106 Complement regulatory protein defects C H02108 Basal laminar drusen C H00821 Age-related macular degeneration C H02240 Ehlers-Danlos syndrome periodontal type C H01887 3MC syndrome C H02579 C3 glomerulopathy C H02398 COVID-19 B nt06514 Coagulation cascade C H00219 Hemophilia C H02092 von Willebrand disease C H00938 Factor XI deficiency C H01254 Congenital prothrombin deficiency C H00222 Congenital fibrinogen deficiency C H02257 Factor X deficiency C H02256 Factor VII deficiency C H00220 Factor V deficiency C H00945 Factor XIII deficiency C H00941 Factor XII deficiency C H01078 Fletcher factor deficiency C H00983 Alpha-2-plasmin inhibitor (a2-PI) deficiency C H01106 Plasminogen activator inhibitor type 1 deficiency C H01206 Plasminogen deficiency C H00223 Inherited thrombophilia C H01381 Antithrombin III deficiency C H01235 Bleeding disorder platelet-type C H02093 Platelet-type von Willebrand disease C H01740 Macrothrombocytopenia C H00225 Thrombotic thrombocytopenic purpura C H01006 Hereditary angioedema C H00106 Complement regulatory protein defects C H01103 Alpha-1-antitrypsin deficiency C H00845 Familial amyloidosis C H01730 Myocardial infarction C H01714 Chronic obstructive pulmonary disease (COPD) C H01433 Budd-Chiari syndrome B nt06517 TLR signaling C H00299 Shigellosis C H00278 Enteropathogenic Escherichia coli (EPEC) infection C H00277 Enterohemorrhagic Escherichia coli (EHEC) infection C H00298 Yersiniosis C H00365 Herpes simplex virus infection C H00342 Tuberculosis C H00344 Leprosy C H00297 Plague C H00311 Legionellosis C H00317 Melioidosis C H01563 HIV infection C H02536 Infection-induced acute encephalopathy C H00398 Influenza C H00394 Measles C H00008 Burkitt lymphoma C H00007 Hodgkin lymphoma C H00041 Kaposi sarcoma C H00054 Nasopharyngeal cancer C H00048 Hepatocellular carcinoma C H00030 Cervical cancer C H00096 Defects of toll-like receptor signaling C H00080 Systemic lupus erythematosus C H00821 Age-related macular degeneration C H02398 COVID-19 B nt06521 NLR signaling C H00299 Shigellosis C H00278 Enteropathogenic Escherichia coli (EPEC) infection C H00277 Enterohemorrhagic Escherichia coli (EHEC) infection C H00298 Yersiniosis C H00113 Salmonellosis C H00365 Herpes simplex virus infection C H00297 Plague C H00398 Influenza C H00048 Hepatocellular carcinoma C H01725 Primary immunodeficiency disease C H02588 NLRP1-associated autoinflammation with arthritis and dyskeratosis C H00288 Familial Mediterranean fever C H02159 Familial cold autoinflammatory syndrome C H02555 Muckle-Wells syndrome C H02556 CINCA syndrome C H00285 Blau syndrome C H00287 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome C H01748 NLRC4 inflammasomopathy C H00604 Deafness, autosomal dominant C H01227 Inflammatory bowel disease (IBD) C H02590 Acute febrile neutrophilic dermatosis C H01372 Vitiligo B nt06519 RLR signaling C H00365 Herpes simplex virus infection C H02536 Infection-induced acute encephalopathy C H00398 Influenza C H00394 Measles C H00008 Burkitt lymphoma C H00007 Hodgkin lymphoma C H00054 Nasopharyngeal cancer C H00048 Hepatocellular carcinoma C H02525 Disorders of innate immunity C H00290 Aicardi-Goutieres syndrome C H00880 Dyschromatosis symmetrica hereditaria C H01571 Singleton-Merten syndrome C H01806 Tenorio syndrome C H02398 COVID-19 B nt06520 CGAS-STING signaling C H00299 Shigellosis C H00365 Herpes simplex virus infection C H01563 HIV infection C H00368 Cytomegalovirus infection C H02608 Autoinflammatory-pancytopenia syndrome C H00080 Systemic lupus erythematosus C H00290 Aicardi-Goutieres syndrome C H01000 Retinal vasculopathy with cerebral leukodystrophy C H00291 Familial chilblain lupus (FCL) C H01746 STING-associated vasculopathy with onset in infancy B nt06537 TCR/BCR signaling C H00298 Yersiniosis C H00297 Plague C H00394 Measles C H00008 Burkitt lymphoma C H00009 Adult T-cell leukemia C H00007 Hodgkin lymphoma C H00054 Nasopharyngeal cancer C H01725 Primary immunodeficiency disease C H02526 Disorders of adaptive immunity C H00085 Agammaglobulinemias C H00088 Common variable immunodeficiency C H00093 Combined immunodeficiency C H00091 T-B+Severe combined immunodeficiency C H01387 Activated PI3K-delta syndrome C H02585 Roifman-Chitayat syndrome C H00108 Autoimmune lymphoproliferative syndromes C H00080 Systemic lupus erythematosus C H02540 Infantile-onset multisystem autoimmune disease C H02159 Familial cold autoinflammatory syndrome C H01743 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation C H00081 Hashimoto thyroiditis C H00254 Growth hormone deficiency C H01370 SHORT syndrome B nt06533 Chemokine signaling C H01563 HIV infection C H00368 Cytomegalovirus infection C H00041 Kaposi sarcoma C H00097 WHIM syndrome # AEndocrine system B nt06310 CRH-ACTH-cortisol signaling C H01102 Pituitary adenomas C H01431 Cushing syndrome C H00260 Pigmented micronodular adrenocortical disease C H02049 Bilateral macronodular adrenal hyperplasia C H01702 Glucocorticoid resistance syndrome C H00602 Glucocorticoid-remediable aldosteronism (GRA) C H00256 Familial glucocorticoid deficiency C H02316 Adrenal insufficiency, NR5A1 related C H01772 Adrenal hypoplasia, congenital B nt06322 TRH-TSH-TH signaling C H00251 Thyroid dyshormonogenesis C H00249 Thyroid hormone resistance syndrome C H00250 Congenital nongoitrous hypothyroidism (CHNG) C H00650 Allan-Herndon-Dudley syndrome C H01269 Congenital hyperthyroidism B nt06323 KISS1-GnRH-LH/FSH-E2 signaling C H01253 Isolated follicle-stimulating hormone deficiency C H00255 Hypogonadotropic hypogonadism C H02061 Estrogen resistance syndrome C H00937 Precocious puberty B nt06324 GHRH-GH-IGF signaling C H01483 Acromegaly C H01274 Growth delay due to insulin-like growth factor I resistance C H02035 Isolated growth hormone deficiency C H02036 Combined pituitary hormone deficiency C H02037 Laron syndrome C H02040 Insulin-like growth factor I deficiency C H00254 Growth hormone deficiency C H02106 Genetic obesity B nt06318 CaSR-PTH signaling C H01862 Hypoparathyroidism C H00244 Pseudohypoparathyroidism C H00246 Primary hyperparathyroidism C H02030 Neonatal hyperparathyroidism B nt06316 Renin-angiotensin-aldosterone signaling C H01603 Primary aldosteronism C H00575 Renal tubular dysgenesis B nt06325 Hormone/cytokine signaling C H00250 Congenital nongoitrous hypothyroidism (CHNG) C H00408 Type 1 diabetes mellitus C H00410 Maturity onset diabetes of the young (MODY) C H01228 Insulin-resistant diabetes mellitus with acanthosis nigricans C H00719 Leprechaunism C H00942 Rabson-Mendenhall syndrome C H01267 Familial hyperinsulinemic hypoglycemia C H01388 Hyperprolactinemia C H01294 Nephrogenic syndrome of inappropriate antidiuresis C H00255 Hypogonadotropic hypogonadism C H00253 Neurohypophyseal diabetes insipidus C H02059 Leptin deficiency C H02060 Leptin receptor deficiency C H01193 Familial tumoral calcinosis C H00967 Adiponectin deficiency C H00214 Hypophosphatemic rickets C H00240 Gitelman syndrome C H01371 Hypercalcemia infantile C H01293 Narcolepsy C H00809 Familial epilepsy temporal lobe (ETL) C H00265 Hereditary sensory and autonomic neuropathy C H02674 Atrial standstill C H00731 Atrial fibrillation C H00801 Familial thoracic aortic aneurysm and dissection C H00759 Waardenburg syndrome C H01198 Fanconi renotubular syndrome C H00243 Renal tubular acidosis type 4 C H00888 Nephrolithiasis/osteoporosis, hypophosphatemic C H00512 Permanent neonatal diabetes mellitus C H00910 Hirschsprung disease C H02185 Spondylometaphyseal dysplasia C H02543 Acromesomelic dysplasia C H01884 Auriculocondylar syndrome C H02679 Miura-type epiphyseal chondrodysplasia C H02126 Mandibulofacial dysostosis with alopecia C H00823 ABCD syndrome C H02681 Short stature with nonspecific skeletal abnormalities B nt06320 APOB-LDLR signaling C H01635 Hyperlipidemia C H00155 Familial hypercholesterolemia C H01918 Familial autosomal recessive hypercholesterolemia ! #
#[ DISEASE | BRITE | KEGG2 | KEGG ]
#Last updated: October 29, 2025 #

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