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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H00403 | Disorders of nucleotide excision repair | Mutations in genes on the nucleotide excision repair pathway are associated with diseases, such as xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD). XP is caused by mutations ... | Congenital malformation | |
| H00404 |
Erythema infectiosum Fifth disease |
Erythema infectiosum, or fifth disease, is a benign pediatric condition caused by B19 parvovirus. It causes a mild, self-limiting 'slapped-cheek' facial rash with low-grade fever and malaise in immunocompetent ... | Viral infectious disease | |
| H00405 |
Marburg disease Marburg hemorrhagic fever |
Marburg disease is a severe infectious disease caused by marburgviruses within the genus Marburgvirus in the family Filoviridae of -ssRNA viruses. Related viruses in Filoviridae are the causative agent ... | Viral infectious disease | |
| H00406 | Acquired immunodeficiency syndrome (AIDS) | Since the discovery in 1980s, HIV/AIDS has become the most important infectious disease globally. Many of the clinical features of HIV/AIDS can be ascribed to the profound immune deficiency in patients ... | Immune system disease; Viral infectious disease | hsa05170 Human immunodeficiency virus 1 infection |
| H00407 | Peroxisomal beta-oxidation enzyme deficiency | Peroxisomal beta-oxidation enzyme deficiency is a group of inherited peroxisomal diseases caused by mutation of one of genes that encode peroxisomal fatty acid beta-oxidation system enzymes. The system ... | Inherited metabolic disorder | |
| H00408 | Type 1 diabetes mellitus | The majority of type 1 diabetes mellitus (T1DM) cases are believed to arise from an inflammatory, autoimmune attack against the beta cells in the pancreas, which consequently leads to the failure of insulin-mediated ... | Metabolic disease; Immune system disease; Endocrine disease | hsa04940 Type I diabetes mellitus |
| H00409 | Type 2 diabetes mellitus | Type 2 diabetes mellitus (T2DM) is characterized by chronic hyperglycemia due to insulin resistance of peripheral tissues (skeletal muscle, liver, adipose tissue) and insufficient compensatory insulin ... | Endocrine and metabolic disease | hsa04930 Type II diabetes mellitus |
| H00410 | Maturity onset diabetes of the young (MODY) | Maturity-onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of familial diabetes mellitus characterized by autosomal dominant inheritance, early onset before 25 years ... | Endocrine and metabolic disease | hsa04950 Maturity onset diabetes of the young |
| H00411 |
Hepatitis A Hepatitis A virus (HAV) infection |
Hepatitis A is an infectious disease caused by hepatitis A virus (HAV), also called hepatovirus A, belonging to the Picornaviridae family of +ssRNA viruses. HAV can be transmitted through contaminated ... | Viral infectious disease | |
| H00412 |
Hepatitis B Hepatitis B virus (HBV) infection |
Hepatitis B is an infectious disease caused by hepatitis B virus (HBV) belonging to the Hepadnaviridae family of dsDNA-RT viruses. Both acute and chronic hepatitis B can be caused by blood-borne HBV infections ... | Viral infectious disease | hsa05161 Hepatitis B |
| H00413 |
Hepatitis C Hepatitis C virus (HCV) infection |
Hepatitis C is a blood-borne infectious disease caused by Hepatitis C virus (HCV) belonging to the Flaviviridae family of +ssRNA viruses. HCV infection often becomes chronic and can lead to degenerative ... | Viral infectious disease | hsa05160 Hepatitis C |
| H00414 |
Hepatitis D Hepatitis D virus (HDV) infection Hepatitis delta virus infection |
Hepatitis D is caused by hepatitis D virus (HDV), also called hepatitis delta virus, which is a satellite that can infect human only in the presence of hepatitis B virus (HBV). | Viral infectious disease | |
| H00415 |
Hepatitis E Hepatitis E virus (HEV) infection |
Hepatitis E is an infectious disease caused by hepatitis E virus (HEV) belonging to the Hepeviridae family of +ssRNA viruses. HEV is transmitted through the fecal-oral route. | Viral infectious disease | |
| H00416 | Omsk hemorrhagic fever | Omsk hemorrhagic fever is an acute viral disease that was found in Omsk, west Siberia in Russia. The disease presents with fever, headache, nausea, severe muscle pain, cough, and moderately severe hemorrhagic ... | Viral infectious disease | |
| H00417 | Alstrom syndrome | Alstrom syndrome (AS) is a rare autosomal recessive inherited disorder characterized by multiorgan dysfunction. AS shares several features with the common metabolic syndrome, namely obesity, hyperinsulinemia ... | Congenital malformation | |
| H00418 | Bardet-Biedl syndrome | Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder with genetic heterogeneity characterized by defects in multiple organ systems. The main features are retinal degeneration, obesity, hypogonadism ... | Inherited metabolic disorder | |
| H00419 | Congenital generalized lipodystrophy | Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease characterized by near total absence of adipose tissue from birth. Several metabolic alterations in carbohydrate (diabetes ... | Inherited metabolic disorder | |
| H00420 | Familial partial lipodystrophy | Familial partial lipodystrophy (FPL) is a rare autosomal dominant disorder characterized by variable loss of body fat from the extremities as well as from the truncal region. LMNA, PPARG and AKT2 have ... | Inherited metabolic disorder | |
| H00421 | Mucopolysaccharidosis | Mucopolysaccharidosis (MPS) is a group of lysosomal storage diseases caused by deficient activity of enzymes that play important roles in the degradation of glycosaminoglycans. MPS2/ Hunter syndrome is ... | Inherited metabolic disorder, Lysosomal disease | |
| H00422 | Glycoproteinoses | Glycoproteinoses are a group of autosomal recessive lysosomal storage diseases caused by deficient activities of enzymes that play important roles in the degradation of glycoproteins such as N-linked or ... | Inherited metabolic disorder, Lysosomal disease | |
| H00423 | Sphingolipidosis | The sphingolipidoses are a group of monogenic inherited diseases caused by defects in the system of lysosomal sphingolipid degradation, with subsequent accumulation of non-degradable storage material in ... | Inherited metabolic disorder, Lysosomal disease | |
| H00424 | Defects in the degradation of sphingomyelin | Defects in the degradation of sphingomyelin are a group of autosomal recessive lysosomal storage diseases including Niemann-Pick disease (NPD), type A/B and Farber lipogranulomatosis. NPD is caused by ... | Inherited metabolic disorder, Lysosomal disease | |
| H00425 | Lysosomal cysteine protease deficiencies | Defects in lysosomal cysteine proteases (Cathepsins) are autosomal recessive lysosomal storage diseases. To date only following two human cathepsin deficiencies have been described, though there are eleven ... | Inherited metabolic disorder, Lysosomal disease | |
| H00426 | Gangliosidosis | Defects in the degradation of ganglioside is a group of autosomal recessive lysosomal storage diseases caused by deficient activities of enzymes or their activators that play important roles in the degradation ... | Inherited metabolic disorder, Lysosomal disease | |
| H00427 | Relapsing fever | Relapsing fever is a bacterial infectious disease caused by spirochaetes belonging to the genus Borrelia and is transmitted by ticks or lice. Louse-borne relapsing fever is now geographically limited, ... | Bacterial infectious disease | |
| H00428 |
Distal renal tubular acidosis Renal tubular acidosis type 1 |
Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. The distal type of RTA (DRTA) arises when ... | Urinary system disease | |
| H00429 |
Proximal renal tubular acidosis Renal tubular acidosis type 2 |
Renal tubular acidosis (RTA) is characterized by metabolic acidosis, a severe disturbance of extracellular pH homeostasis, due to renal impaired acid excretion. Proximal RTA (type 2) is caused by an impairment ... | Urinary system disease | |
| H00430 | Fibrodysplasia ossificans progressiva | Fibrodysplasia ossificans progressiva (FOP) is a very rare disorder that leads to progressive ossification of muscle tissue and connective tissue. This process becomes noticeable in early childhood. Affected ... | Musculoskeletal disease | |
| H00431 | Ossification of the posterior longitudinal ligament of spine | Ossification of the posterior longitudinal ligament of spine (OPLL) is an osteogenetic disorder of the spine found among Japanese and other East Asian populations. Ectopic bone formation in the posterior ... | Musculoskeletal disease | |
| H00432 | Hereditary dentine disorders | Hereditary dentine disorders are divided into 5 types: 3 types of dentinogenesis imperfecta (DGI), and 2 types of dentin dysplasia (DTDP). DGI type I is inherited with osteogenesis imperfecta [DS:H00506] ... | Congenital malformation | |
| H00433 | Holt-Oram syndrome | Holt-Oram syndrome (HOS) is an autosomal-dominant disorder characterized by bilateral forelimb anomalies and congenital heart diseases. All patients with HOS have abnormal carpal bones and about 85% to ... | Congenital malformation | |
| H00434 |
Camurati-Engelmann disease Progressive diaphyseal dysplasia |
Camurati-Engelmann disease (CED) is an autosomal dominant disorder characterized by hyperostosis of the diaphysis of long bones and the skull. The onset of CED is during early childhood with muscle weakness ... | Congenital malformation | |
| H00435 | Toxoplasmosis | Toxoplasmosis is a worldwide infection caused by the intracellular parasite Toxoplasma gondii. The majority of horizontal transmissions to humans is caused either by the ingestion of tissue cysts in infected ... | Parasitic infectious disease | hsa05145 Toxoplasmosis |
| H00436 | Osteopetrosis | The osteopetroses are a heterogeneous group of disorders characterized by increased bone density and the replacement of trabecular bone with compact bone due to reduced osteoclastic bone resorption. Some ... | Congenital malformation | |
| H00437 | Paget disease of bone | Paget disease of bone (PDB) are rare inherited osteolytic disorders that show phenotypic overlap. Patients with these diseases carry mutations in RANK/TNFRSF11A, OPG/TNFRSF11B or SQSTM1, resulting in activation ... | Musculoskeletal disease | |
| H00438 |
Nasu-Hakola disease Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy |
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), or Nasu-Hakola disease is an autosomal recessive inherited disorder. It is characterized by repeated fractures occurring ... | Inherited metabolic disorder | |
| H00439 | Shwachman-Diamond syndrome | Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disease, mainly characterized by exocrine pancreatic insufficiency, hematological dysfunction and skeletal abnormalities. In most cases, SDS ... | Ribosomopathy | |
| H00440 | Rett syndrome | Rett Syndrome is a severe neurological disorder found almost exclusively in girls. It is characterized by acquired microcephaly, communication dysfunction, psychomotor regression, seizures and stereotypical ... | Nervous system disease | |
| H00441 | Progressive osseous heteroplasia | Progressive osseous heteroplasia (POH) is a genetic disorder where heterozygous inactivating mutations in the GNAS gene have been identified. Patients with POH characteristically develop extensive bone ... | Musculoskeletal disease | |
| H00442 | Campomelic dysplasia | Campomelic dysplasia (CD) is a rare congenital skeletal dysplasia characterized by bowing of the long bones (campomelia). It is often associated with male-to-female autosomal sex reversal. Haploinsufficiency ... | Congenital malformation |
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