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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01081 | Achromobacter xylosoxidans keratitis | Achromobacter xylosoxidans is a gram-negative bacterium that belongs to the genus Alicaligenes. This organism can rarely cause keratitis in patients who had worn contact lenses. | Bacterial infectious disease | ||
| H01083 | Bordetella bronchiseptica infection | Bordetella bronchiseptica is a common pathogen among dogs and pigs, but has rarely been implicated in human infections. Human infections caused by B. bronchiseptica occur mostly in immunocompromised patients ... | Bacterial infectious disease | ||
| H01084 | Bordetella holmesii infection | Bordetella holmesii is a fastidious asaccharolytic oxidase-negative gram-negative bacterium closely related to B. pertussis. It has been reported as a rare cause of bacteremia, pertussis-like respiratory ... | Bacterial infectious disease | ||
| H01106 | Plasminogen activator inhibitor type 1 deficiency | ... menorrhagia, and delayed bleeding after trauma or surgical procedures. Spontaneous bleeding events are rarely seen in contrast to other procoagulant deficiencies. Generally most of the PAI-1-related diseases ... | Hematologic disease | PAI1 [HSA:5054] [KO:K03982] | |
| H01108 |
CD36 deficiency Platelet glycoprotein IV deficiency Bleeding disorder platelet-type 10 (BDPLT10) |
Human genetic platelet glycoprotein IV (CD36) deficiency may be related to the phenotypic expression of the metabolic syndrome and is frequently associated with atherosclerotic cardiovascular diseases ... | Inherited metabolic disorder | CD36 [HSA:948] [KO:K06259] | |
| H01114 | Ocular coloboma | ... have been reported. And most PAX6 nonsense mutations lead to aniridia, while missense mutations are related to foveal hypoplasia, congenital cataracts, or anterior segment anomalies. Recently, it has been ... | Congenital malformation |
PAX6 [HSA:5080] [KO:K08031] SALL2 [HSA:6297] [KO:K19871] YAP1 [HSA:10413] [KO:K16687] |
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| H01129 | Brody myopathy | ... muscle function characterized by painless muscle contracture and exercise-induced impairment of muscle relaxation due to a defect of calcium reuptake. Mutations in the human ATP2A1 gene, that encodes one ... | Nervous system disease; Musculoskeletal disease | ATP2A1 [HSA:487] [KO:K05853] | |
| H01132 | Aplastic anemia | ... myelosuppressive cytokines including interferon-gamma. It has been reported that polymorphisms in IFNG are related to AA. A minority of patients with AA has heterozygous mutations in genes encoding the telomerase ... | Hematologic disease |
TERC [HSA:7012] [KO:K22183] TERT [HSA:7015] [KO:K11126] IFNG [HSA:3458] [KO:K04687] PRF1 [HSA:5551] [KO:K07818] SBDS [HSA:51119] [KO:K14574] NBN [HSA:4683] [KO:K10867] |
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| H01140 |
Sennetsu neorickettsiosis Sennetsu ehrlichiosis |
Neorickettsia sennetsu, an obligate intracellular bacteria closely related to Ehrlichia and Anaplasma, causes an infectious mononucleosis-like disease. It is very likely linked to consumption of raw fish ... | Bacterial infectious disease | ||
| H01144 | Ochrobactrum anthropi infection | ... oxidase-producing gram-negative bacillus. The pathogen is recognized increasingly as a causative agent of central catheter-related infections, causing bloodstream infection in patients on hemodialysis. | Bacterial infectious disease | ||
| H01147 | Methylobacterium infection | Methylobacterium species are fastidious, pink-pigmented, gram-negative bacilli that rarely cause human infections. It has been reported to that the bacterium can cause catheter-related infection in both ... | Bacterial infectious disease | ||
| H01168 | Sea-blue histiocyte disease | ... entity characterized by splenomegaly, mild purpura secondary to thrombocytopenia, and most often with a relatively prolonged benign course. Numerous sea-blue histiocytes are observed in many organs including ... | Inherited metabolic disorder | APOE [HSA:348] [KO:K04524] | |
| H01170 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | ... spastic ataxia of Charlevoix-Saguenay (ARSACS) is a distinct form of hereditary early-onset spastic ataxia related to progressive degeneration of the cerebellum and spinal cord. ARSACS is clinically characterized ... | Nervous system disease | SACS [HSA:26278] [KO:K17592] | |
| H01175 | Staphylococcal infection | ... opportunistic pathogen of dogs and cats. S. pseudintermedius colonization is very uncommon in humans. It is rarely isolated from human dog-bite wounds. The infection has been associated with wide range of symptoms ... | Bacterial infectious disease | ||
| H01192 |
Lysyl hydroxylase 3 deficiency Bone fragility with contractures arterial rupture and deafness |
... by defects in PLOD3 that encodes LH3. This disease is characterized by congenital malformations severely affecting many tissues and organs and revealing features of several collagen disorders. In addition ... | Congenital malformation | PLOD3 [HSA:8985] [KO:K13646] | |
| H01202 | Cataract | ... first decade of life; a presenile cataract presents before the age of about 45 years, and senile or age-related cataract after that. Congenital cataracts are a major cause of induced blindness in children ... | Nervous system disease |
(CTRCT1) GJA8 [HSA:2703] [KO:K07617] (CTRCT2) CRYGC [HSA:1420] [KO:K23483] (CTRCT3) CRYBB2 [HSA:1415] [KO:K23482] (CTRCT4) CRYGD [HSA:1421] [KO:K23483] (CTRCT5) HSF4 [HSA:3299] [KO:K09417] (CTRCT6) EPHA2 [HSA:1969] [KO:K05103] (CTRCT9) CRYAA [HSA:1409] [KO:K09541] (CTRCT10) CRYBA1 [HSA:1411] [KO:K23482] (CTRCT11) PITX3 [HSA:5309] [KO:K09357] (CTRCT12) BFSP2 [HSA:8419] [KO:K10379] (CTRCT13) GCNT2 [HSA:2651] [KO:K00742] (CTRCT14) GJA3 [HSA:2700] [KO:K07612] (CTRCT15) MIP [HSA:4284] [KO:K09863] (CTRCT16) CRYAB [HSA:1410] [KO:K09542] (CTRCT17) CRYBB1 [HSA:1414] [KO:K23482] (CTRCT18) FYCO1 [HSA:79443] [KO:K21954] (CTRCT19) LIM2 [HSA:3982] [KO:K24190] (CTRCT20) CRYGS [HSA:1427] [KO:K23483] (CTRCT21) MAF [HSA:4094] [KO:K09035] (CTRCT22) CRYBB3 [HSA:1417] [KO:K23482] (CTRCT23) CRYBA4 [HSA:1413] [KO:K23482] (CTRCT30) VIM [HSA:7431] [KO:K07606] (CTRCT31) CHMP4B [HSA:128866] [KO:K12194] (CTRCT33) BFSP1 [HSA:631] [KO:K10378] (CTRCT34) FOXE3 [HSA:2301] [KO:K09398] (CTRCT36) TDRD7 [HSA:23424] [KO:K18405] (CTRCT38) AGK [HSA:55750] [KO:K09881] (CTRCT39) CRYGB [HSA:1419] [KO:K23483] (CTRCT40) NHS [HSA:4810] [KO:K24144] (CTRCT41) WFS1 [HSA:7466] [KO:K14020] (CTRCT42) CRYBA2 [HSA:1412] [KO:K23482] (CTRCT43) UNC45B [HSA:146862] [KO:K21991] (CTRCT44) LSS [HSA:4047] [KO:K01852] (CTRCT45) SIPA1L3 [HSA:23094] [KO:K17703] (CTRCT46) LEMD2 [HSA:221496] [KO:K24080] (CTRCT47) SLC16A12 [HSA:387700] [KO:K11810] (CTRCT48) DNMBP [HSA:23268] [KO:K20705] (CTRCT49) PANK4 [HSA:55229] [KO:K24265] (CTRCT50) TRPM3 [HSA:80036] [KO:K04978] |
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| H01211 | MECP2-related severe neonatal encephalopathy | MECP2-related severe neonatal encephalopathy is a rare disorder of males characterized by a static encephalopathy, severe developmental delays, hypotonia, seizures, and respiratory abnormalities that often ... | Congenital malformation | MECP2 [HSA:4204] [KO:K11588] | |
| H01217 | Primary localized cutaneous amyloidosis | ... a chronic itchy skin disorder associated with amyloid deposits in the superficial dermis. It is a purely cutaneous disease with no association with systemic forms of amyloidosis. Clinically, skin lesions ... | Skin disease |
(PLCA1) OSMR [HSA:9180] [KO:K05057] (PLCA2) IL31RA [HSA:133396] [KO:K22630] (PLCA3) GPNMB [HSA:10457] [KO:K20732] |
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| H01268 |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome HHH syndrome |
... ornithine from the cytoplasm into the inner mitochondrial membrane. Mutations in the SLC25A15 gene, that encodes the mitochondrial ornithine transporter have been shown to be correlated with the HHH syndrome. | Inherited metabolic disorder | SLC25A15 [HSA:10166] [KO:K15101] | |
| H01314 |
Rat-bite fever Haverhill fever |
... countries, or Spirillum minus, which is the most prevalent pathogen in Asia. It is manifested by acute relapsing fever with migratory polyarthralgia. It is transmitted from rodents to humans either by rodent ... | Bacterial infectious disease | ||
| H01315 |
Erysipeloid Swine erysipelas |
... which was identified as the etiologic agent of swine erysipelas. Infection in man is occupationally related, occurring principally as a result of contact with animals, and mainly found in animal breeders ... | Bacterial infectious disease | ||
| H01318 | Yaws | ... treponematoses. The non-venereal endemic treponematoses are yaws, pinta, and endemic syphilis. Yaws is a chronic, relapsing disease predominantly affecting children living in certain tropical regions. Clinical manifestations ... | Bacterial infectious disease | ||
| H01332 | Helicobacter heilmannii infection | Helicobacter heilmannii (H. heilmannii) infection is a relatively rare causative agent of gastroduodenal diseases in children. H. heilmannii frequently colonizes gastric mucosa of animals, mainly cats ... | Bacterial infectious disease | ||
| H01341 | Collagen VI myopathy | Collagen VI-related myopathy include severe Ullrich congenital muscular dystrophy (UCMD) and milder Bethlem myopathy. Mutations in each of the three collagen VI genes COL6A1, COL6A2, and COL6A3 cause these ... | Nervous system disease; Musculoskeletal disease |
COL6A1 [HSA:1291] [KO:K06238] COL6A2 [HSA:1292] [KO:K06238] COL6A3 [HSA:1293] [KO:K06238] |
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| H01358 | Atopic dermatitis | Atopic dermatitis (ATOD) is a relapsing chronic inflammatory skin disease characterized by eczematous skin lesions and intense pruritus. A genetic defect in the filaggrin (FLG) protein and/or environmental ... | Immune system disease; Skin disease | (ATOD2) FLG [HSA:2312] [KO:K10384] | |
| H01373 | Achromobacter xylosoxidans infection | ... targeting immunocompromised patients suffering from cancer, advanced HIV, diabetes mellitus or chronic renal failure. This bacterium can rarely cause keratitis in patients who had worn contact lenses. | Bacterial infectious disease | ||
| H01380 | Bacterial vaginosis | Bacterial vaginosis (BV) flora is dominated by Gardnerella vaginalis and includes many anaerobic organisms as contrasted with normal lactobacillus-dominated vaginal flora. BV flora is thought to be related ... | Bacterial infectious disease | ||
| H01383 |
Hyperlipoproteinemia type IIa LDL receptor disorder |
Familial hypercholesterolemia is characterized by severely elevated low-density lipoprotein (LDL) cholesterol, xanthomas, and the development of premature cardiovascular disease. Hyperlipoproteinemia type ... | Inherited metabolic disorder | LDLR [HSA:3949] [KO:K12473] | |
| H01388 | Hyperprolactinemia | Hyperprolactinemia (HPRL) unrelated to pregnancy is a disorder characterized by excess production of prolactin (PRL) and may result in infertility, hypogonadism, and galactorrhea. Such nonphysiological ... | Endocrine and metabolic disease | PRLR [HSA:5618] [KO:K05081] | |
| H01397 |
Tick-borne lymphadenopathy Tick-borne lymphadenitis |
... characterized by inoculation eschar on the scalp and cervical lymphadenopathies after a tick bite. Moreover, most of the cases occur during European cool months related to the activity of Dermacentor ticks. | Bacterial infectious disease | ||
| H01399 | Bacillus thuringiensis infection | Bacillus thuringiensis is a close taxonomic relative of Bacillus cereus and an insect pathogen that is widely used as a biopesticide. Additionally, this bacterium is known to induce myonecrosis in immunosuppressed ... | Bacterial infectious disease | ||
| H01400 | Secondary hyperammonemia | ... metabolites that accumulate due to enzymatic defects in other pathways, may inhibit the urea cycle. The most relevant group of disorders in this respect is that of organic acidemias. The urea cycle function may ... | Inherited metabolic disorder |
MMUT [HSA:4594] [KO:K01847] PCCA [HSA:5095] [KO:K01965] PCCB [HSA:5096] [KO:K01966] IVD [HSA:3712] [KO:K00253] ACADM [HSA:34] [KO:K00249] ETFDH [HSA:2110] [KO:K00311] ETFA [HSA:2108] [KO:K03522] ETFB [HSA:2109] [KO:K03521] CPT2 [HSA:1376] [KO:K08766] SLC25A20 [HSA:788] [KO:K15109] SLC7A7 [HSA:9056] [KO:K13867] ALDH18A1 [HSA:5832] [KO:K12657] PC [HSA:5091] [KO:K01958] OAT [HSA:4942] [KO:K00819] CA5A [HSA:763] [KO:K01672] GLUD1 [HSA:2746] [KO:K00261] TMEM70 [HSA:54968] [KO:K17966] GLUL [HSA:2752] [KO:K01915] |
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| H01406 | Streptococcus suis infection | ... occurs sporadically in Europe and North-America and case reports suggest that it is almost exclusively related to occupational exposure to pigs or pork products. Incidences of human infection with S. suis ... | Bacterial infectious disease | ||
| H01408 | Periodontal disease | ... including dental pathogens, to eventually form a biofilm. These complex interactions result in the release of factors that lead to tooth decay. Physical interaction is very specific among various genera ... | Bacterial infectious disease | ||
| H01428 | Xeroderma pigmentosum | ... individuals with XP under 20 years of age is 2,000 times as high as incidence in the general population. Neurodegeneration can be correlated with mutations in specific XP genes (XPA, ERCC3, ERCC2 and ERCC5). | Congenital malformation |
(XPA) XPA [HSA:7507] [KO:K10847] (XPB) ERCC3 [HSA:2071] [KO:K10843] (XPC) XPC [HSA:7508] [KO:K10838] (XPD) ERCC2 [HSA:2068] [KO:K10844] (XPE) DDB2 [HSA:1643] [KO:K10140] (XPF) ERCC4 [HSA:2072] [KO:K10848] (XPG) ERCC5 [HSA:2073] [KO:K10846] (XPV) POLH [HSA:5429] [KO:K03509] |
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| H01431 | Cushing syndrome | ... excess glucocorticoids via exogenous and endogenous sources. The typical clinical features of CS are related to hypercortisolism and include accumulation of central fat, moon facies, neuromuscular weakness ... | Endocrine and metabolic disease | hsa04934 Cushing syndrome |
(MEN1) MEN1 [HSA:4221] [KO:K14970] (MEN4) CDKN1B [HSA:1027] [KO:K06624] (CNC1) PRKAR1A [HSA:5573] [KO:K04739] (PITA1) AIP [HSA:9049] [KO:K17767] (PITA2) GPR101 [HSA:83550] [KO:K08423] (PITA3) GNAS [HSA:2778] [KO:K04632] (PITA4) USP8 [HSA:9101] [KO:K11839] (PITA5) CDH23 [HSA:64072] [KO:K06813] (AIMAH2) ARMC5 [HSA:79798] [KO:K22499] (PPNAD1) PRKAR1A [HSA:5573] [KO:K04739] (PPNAD2) PDE11A [HSA:50940] [KO:K13298] (PPNAD3) PDE8B [HSA:8622] [KO:K18437] (PPNAD4) PRKACA [HSA:5566] [KO:K04345] RASD1 [HSA:51655] [KO:K07843] |
| H01445 | Acne vulgaris | ... and the external ear canal. Although P. acnes is primarily recognized for its role in acne, it's also famous as an opportunistic pathogen causing a range of postoperative and device-related infections. | Bacterial infectious disease | ||
| H01446 | Propionibacterium acnes infection | ... association with acne vulgaris but it also causes bacterial keratitis and endophthalmitis after ophthalmic surgery, and is increasingly recognized as a significant cause of medical device-related infections. | Bacterial infectious disease | ||
| H01449 |
Excoriation disorder Skin picking disorder |
... temporoparietal junction. Another study has shown deficits in motor inhibition, which appears to be correlated with frontal cortex abnormalities. Furthermore, severity of excoriation disorder may be associated ... | Mental and behavioural disorder | ||
| H01450 | Obsessive-compulsive disorder | ... Early-onset OCD has been proposed to be associated with greater symptom severity, a higher prevalence of tic-related disorders, a more familial form of the condition, and a greater prevalence of psychiatry disorders ... | Mental and behavioural disorder |
HTR2A [HSA:3356] [KO:K04157] SLC6A4 [HSA:6532] [KO:K05037] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |