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Entry Name Description Category Pathway Gene
H00256 Familial glucocorticoid deficiency ... illnesses or infections, hypoglycemia, convulsions, failure to thrive and shock. The disease is life threatening if untreated. Glucocorticoid replacement is the recommended treatment. It has been reported that ... Endocrine and metabolic disease (FGD1) MC2R [HSA:4158] [KO:K04200]
(FGD2) MRAP [HSA:56246] [KO:K22398]
(FGD4) NNT [HSA:23530] [KO:K00323]
(FGD5) TXNRD2 [HSA:10587] [KO:K22182]
H00258 Aldosterone synthase deficiency
Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency 		... 18-hydroxylation of 18-hydroxycorticosterone to aldosterone. This disease is characterized by life-threatening salt-loss, failure to thrive, hyponatraemia and hyperkalaemia in early infancy. In type I deficiency ... Endocrine and metabolic disease CYP11B2 [HSA:1585] [KO:K07433]
H00259 Apparent mineralocorticoid excess syndrome
11-beta-ketoreductase deficiency 		Apparent mineralocorticoid excess (AME) syndrome is characterized by hypertension, low plasma renin and aldosterone and hypokalaemia caused by deficiency of 11b-hydroxysteroid dehydrogenase type 2 which ... Endocrine and metabolic disease HSD11B2 [HSA:3291] [KO:K00071]
H00268 Lissencephaly Lissencephaly (LIS), literally meaning smooth brain, is a severe neuronal migration disorder that ranges from agyria/pachygyria to subcortical band heterotopia. Congenital malformation (LIS1/MDS) PAFAH1B1 [HSA:5048] [KO:K16794]
(LIS2) RELN [HSA:5649] [KO:K06249]
(LIS3) TUBA1A [HSA:7846] [KO:K07374]
(LIS4) NDE1 [HSA:54820] [KO:K16738]
(LIS5) LAMB1 [HSA:3912] [KO:K05636]
(LIS6) KATNB1 [HSA:10300] [KO:K18643]
(LIS7) CDK5 [HSA:1020] [KO:K02090]
(LIS8) TMTC3 [HSA:160418] [KO:K23424]
(LIS9) MACF1 [HSA:23499] [KO:K19827]
(LIS10) CEP85L [HSA:387119] [KO:K16766]
(LISX1) DCX [HSA:1641] [KO:K16579]
(LISX2) ARX [HSA:170302] [KO:K09452]
H00293 Arrhythmogenic right ventricular cardiomyopathy ... and nuclear translocation of plakoglobin. As a result, competition between plakoglobin and beta-catenin will lead to the inhibition of Wnt/beta-catenin signaling, resulting in a shift from a myocyte fate ... Cardiovascular disease hsa05412 Arrhythmogenic right ventricular cardiomyopathy (ARVD1) TGFB3 [HSA:7043] [KO:K13377]
(ARVD2) RYR2 [HSA:6262] [KO:K04962]
(ARVD5) TMEM43 [HSA:79188] [KO:K27488]
(ARVD8) DSP [HSA:1832] [KO:K10381]
(ARVD9) PKP2 [HSA:5318] [KO:K12642]
(ARVD10) DSG2 [HSA:1829] [KO:K07597]
(ARVD11) DSC2 [HSA:1824] [KO:K07601]
(ARVD12) JUP [HSA:3728] [KO:K10056]
(ARVD13) CTNNA3 [HSA:29119] [KO:K05691]
(ARVD14) CDH2 [HSA:1000] [KO:K06736]
H00297 Plague ... the Black Death in the fourteenth century, and the Third Pandemic that began in Central Asia in the nineteenth century. The genome sequences have been determined for the strains responsible for these epidemics Bacterial infectious disease
H00301 Klebsiella infection ... aminoglycosides, chloramphenicol, sulfonamides, trimethoprim, and tetracycline. Thus, Gram-negative bacilli containing these plasmids are multidrug-resistant. Klebsiella pneumoniae can cause sepsis, conjunctivitis, ... Bacterial infectious disease
H00302 Citrobacter infection ... infections in neonates and immunocompromised hosts. Among them, C. koseri is an important cause of neonatal meningitis and brain abscess formation. Neonates may acquire C. koseri horizontally in hospital settings ... Bacterial infectious disease
H00304 Haemophilus influenzae infection ... depends on the patient's age, and infants between 4 months and 1 year of age are at highest risk for meningitis. Invasive disease due to Hib may produce various clinical syndromes including meningitis, arthritis ... Bacterial infectious disease
H00306 Pasteurellosis ... cavity. Most human infections are caused by dog or cat bites. Disseminated Pasteurella infections can lead to serious diseases including septic shock and meningitis mostly in infants and pregnant women. Bacterial infectious disease
H00309 Multidrug-resistant Acinetobacter infection ... worldwide problem as a nosocomial pathogen in hospitalized patients. It can cause bacteremia, pneumonia, meningitis, urinary tract infection, wound infection, and nosocomial infections. Isolates resistant to ... Bacterial infectious disease
H00314 Meningococcal infection Neisseria meningitidis is a gram-negative bacterial pathogen that specifically infects humans. It is a frequent asymptomatic colonizer of the human upper respiratory tract, and most adults are resistant ... Bacterial infectious disease
H00319 Pertussis
Whooping cough 		... vaccination rates, this illness has re-emerged worldwide, causing approximately 300 000 deaths each year. Waning immunity after childhood immunization has resulted in a growing pool of susceptible adolescents ... Bacterial infectious disease hsa05133 Pertussis
H00324 Scrub typhus ... that is transmitted by the Leptotrombidium species mite. The disease is confined to East Asia and characterized by fever, rash, eschar, pneumonitis, meningitis, and disseminated intravascular coagulation. Bacterial infectious disease
H00328 Anthrax ... bacterium belonging to the Bacillus cereus group of pathogenic Bacillus, which also includes a food poisoning bacterium Bacillus cereus [DS:H00329] and an insect pathogen Bacillus thuringiensis [DS:H01399] ... Bacterial infectious disease
H00333 Streptococcal infection ... of infections each year, ranging from mild pharyngitis to severe streptococcal toxic shock-like syndrome (STSS), and GBS causes neonatal invasive infections including sepsis, pneumonia, and meningitis. Bacterial infectious disease
H00335 Foodborne Clostridium perfringens intoxication ... according to the major toxins they produce. It causes two different foodborne diseases: Type A food poisoning and Type C food poisoning. Type A causes relatively mild diarrhea common in the industrialized countries ... Bacterial infectious disease
H00343 Diphtheria Diphtheria is a contagious and potentially life-threatening childhood disease caused by Corynebacterium diphtheriae. In industrialized countries, immunization against diphtheria became widespread in the ... Bacterial infectious disease
H00364 Cryptococcosis ... especially in the immunocompromised patient. It mainly infects the central nervous system and causes meningitis. Cryptococcal lung disease is also an important clinical outcome, leading to severe pneumonia ... Fungal infectious disease
H00371 Adenovirus infection ... recruits, and immunocompromised individuals, Ad infections often result in disseminated and potentially life-threatening disease. Ocular Ad infections are among the leading causes of viral conjunctivitis. Viral infectious disease
H00381 Dengue ... worldwide, and at least four different serotypes of DENV are known causing dengue fever and life-threatening dengue hemorrhagic fever. Dengue is a very old disease with a report of dengue-like illness in China ... Viral infectious disease
H00393 Enterovirus infection
Non-polio enterovirus infection 		... family Picornaviridae of +ssRNA viruses. Most non-polio enterovirus infections are mild, but some of them can cause hand, foot and mouth disease, viral conjunctivitis, viral meningitis and other diseases. Viral infectious disease
H00396 Mumps ... classically manifested by inflammation of parotid glands and fever. Mortality is rare, but it is often accompanied by more serious complications such as aseptic meningitis, pediatric deafness, and orchitis. Viral infectious disease
H00408 Type 1 diabetes mellitus ... loss and so on. It is recognized that both genetic and environmental determinants are important in defining disease risk. The HLA class II genes are most strongly associated with T1DM. Another plausible candidate ... Metabolic disease; Immune system disease; Endocrine disease hsa04940 Type I diabetes mellitus (T1D2) INS [HSA:3630] [KO:K04526]
(T1D5) SUMO4 [HSA:387082] [KO:K12160]
(T1D10) IL2RA [HSA:3559] [KO:K05068]
(T1D12) CTLA4 [HSA:1493] [KO:K06538]
(T1D20) HNF1A [HSA:6927] [KO:K08036]
(T1D22) CCR5 [HSA:1234] [KO:K04180]
HLA-DRB1 [HSA:3123] [KO:K06752]
HLA-DQB1 [HSA:3119] [KO:K06752]
HLA-DQA1 [HSA:3117] [KO:K06752]
PTPN22 [HSA:26191] [KO:K18024]
PTPN2 [HSA:5771] [KO:K18026]
ERBB3 [HSA:2065] [KO:K05084]
IL2 - IL21 [HSA:3558 59067] [KO:K05429 K05434]
IFIH1 [HSA:64135] [KO:K12647]
CLEC16A [HSA:23274] [KO:K19513]
BACH2 [HSA:60468] [KO:K09042]
CTSH [HSA:1512] [KO:K01366]
SH2B3 [HSA:10019] [KO:K12459]
C12orf30 [HSA:80018] [KO:K17973]
CD226 [HSA:10666] [KO:K06567]
ITPR3 [HSA:3710] [KO:K04960]
CYP27B1 [HSA:1594] [KO:K07438]
H00455 Spinal muscular atrophy ... types of SMA are recognized depending on the age of onset and the severity of the disease: type I (Werdning-Hoffman), type II (intermediate), type III (Kugeleberg-Welander) and type IV (adult form). Other ... Neurodegenerative disease (SMA1,2,3,4) SMN1 [HSA:6606] [KO:K13129]
(SMA3) SMN2 [HSA:6607] [KO:K13129]
(SMAX1) AR [HSA:367] [KO:K08557]
(SMAX2) UBA1 [HSA:7317] [KO:K03178]
(SMAX3) ATP7A [HSA:538] [KO:K17686]
(SMAPAD) VAPB [HSA:9217] [KO:K10707]
(SMALED1) DYNC1H1 [HSA:1778] [KO:K10413]
(SMALED2) BICD2 [HSA:23299] [KO:K18739]
(SMAJI) GARS1 [HSA:2617] [KO:K01880]
H00466 Grebe dysplasia
Acromesomelic dysplasia Hunter-Thompson type 		Acromesomelic dysplasia is a rare form of severe acromesomelic limb shortening inherited in autosomal recessive fashion. Lower limbs are more affected than the upper limbs, showing nonfunctional fingers ... Congenital malformation GDF5 [HSA:8200] [KO:K04664]
H00467 Fibular hypoplasia and complex brachydactyly
Du Pan syndrome
Acromesomelic dysplasia 2B 		... (DuPan syndrome), inherited as an autosomal recessive trait, is characterized by fibula aplasia and severe limb shortening. Affected individuals were reported to be homozygous for a GDF5 missense mutation. Congenital malformation GDF5 [HSA:8200] [KO:K04664]
H00470 Acromesomelic dysplasia, Maroteaux type ... recessive skeletal dysplasia that affects postnatal skeletal growth. Affected individuals show marked short stature and limb shortening. Homozygous loss-of-function mutations in NPR2 have been identified. Congenital malformation NPR2 [HSA:4882] [KO:K12324]
H00482 Brachydactyly Brachydactyly (BD) comprises hereditary limb malformations characterized by apparent shortening of digits. Bone dysostosis is seen in middle phalanges in type A; distal phalanges in type B; distal phalanx ... Congenital malformation (BDA1) IHH [HSA:3549] [KO:K11989]
(BDA1C, BDA2, BDC) GDF5 [HSA:8200] [KO:K04664]
(BDA1D, BDA2) BMPR1B [HSA:658] [KO:K13578]
(BDA2) BMP2 [HSA:650] [KO:K21283]
(BDB1) ROR2 [HSA:4920] [KO:K05123]
(BDB2) NOG [HSA:9241] [KO:K04658]
(BDD, BDE1) HOXD13 [HSA:3239] [KO:K09298]
(BDE2) PTHLH [HSA:5744] [KO:K22608]
(HTNB) PDE3A [HSA:5139] [KO:K19021]
H00485 Robinow syndrome ... (large nasal bridge, short upturned nose, and anteverted nares), midface hypoplasia, mesomelic limb shortening, brachydactyly, clinodactyly, micropenis, and short stature. Both autosomal recessive and autosomal ... Congenital malformation (RRS1) ROR2 [HSA:4920] [KO:K05123]
(RRS2) NXN [HSA:64359] [KO:K17609]
(DRS1) WNT5A [HSA:7474] [KO:K00444]
(DRS2) DVL1 [HSA:1855] [KO:K02353]
(DRS3) DVL3 [HSA:1857] [KO:K02353]
H00492 SHOX-related short stature ... Leri-Weill and Langer syndromes are conditions with growth retardation. Patients also exhibit mesomelic shortening in Leri-Weill and Langer syndromes. These conditions are due to mutations in SHOX gene within the ... Congenital malformation SHOX [HSA:6473] [KO:K09331]
H00508 Blomstrand syndrome
Blomstrand chondrodysplasia 		Blomstrand syndrome is a lethal osteochondrodysplasia due to nonfunctioning PTHrP receptors. Patients show increased bone density and advanced endochondral bone maturation. Congenital malformation PTHR1 [HSA:5745] [KO:K04585]
H00510 Feingold syndrome ... (FGLDS) is characterized by limb malformations, microcephaly, esophageal/duodenal atresias, and learning disability. Feingold syndrome is caused by mutations in MYCN and inherited as an autosomal dominant ... Congenital malformation (FGLDS1) MYCN [HSA:4613] [KO:K09109]
(FGLDS2) MIR17HG [HSA:407975]
H00542 Polycystic kidney disease Polycystic kidney disease (PKD) is the most common life-threatening genetic disease characterized by bilateral cyst formation on the kidneys. It is often associated with liver cysts. Congenital malformation (PKD1) PKD1 [HSA:5310] [KO:K04985]
(PKD2) PKD2 [HSA:5311] [KO:K04986]
(PKD3) GANAB [HSA:23193] [KO:K05546]
(PKD4) PKHD1 [HSA:5314] [KO:K19865]
(PKD5) DZIP1L [HSA:199221] [KO:K16470]
(PKD6) DNAJB11 [HSA:51726] [KO:K09517]
(PKD7) ALG5 [HSA:29880] [KO:K00729]
(PKD8) NEK8 [HSA:284086] [KO:K20877]
H00548 Brunner syndrome
MAOA deficiency 		... X-linked non-dysmorphic mild mental retardation. It is caused by a monoamine oxidase A (MAOA) deficiency, which leads to an excess of monoamines in the brain, such as serotonin, dopamine, and epinephrine. Inherited metabolic disorder MAOA [HSA:4128] [KO:K00274]
H00564 Primary ciliary dyskinesia ... impaired motile ciliary function. Alterations in the left-right organization of the internal organ positioning, which is caused by dysfunctional nodal cilia in early developmental stage, occur in approximately ... Respiratory system disease (CILD1) DNAI1 [HSA:27019] [KO:K10409]
(CILD2) DNAAF3 [HSA:352909] [KO:K19752]
(CILD3) DNAH5 [HSA:1767] [KO:K10408]
(CILD5) HYDIN [HSA:54768] [KO:K17570]
(CILD6) NME8 [HSA:51314] [KO:K19868]
(CILD7) DNAH11 [HSA:8701] [KO:K10408]
(CILD9) DNAI2 [HSA:64446] [KO:K11143]
(CILD10) DNAAF2 [HSA:55172] [KO:K19751]
(CILD11) RSPH4A [HSA:345895] [KO:K19756]
(CILD12) RSPH9 [HSA:221421] [KO:K19757]
(CILD13) DNAAF1 [HSA:123872] [KO:K19750]
(CILD14) CCDC39 [HSA:339829] [KO:K23729]
(CILD15) CCDC40 [HSA:55036] [KO:K23730]
(CILD16) DNAL1 [HSA:83544] [KO:K10411]
(CILD17) CCDC103 [HSA:388389] [KO:K23731]
(CILD18) DNAAF5 [HSA:54919] [KO:K19759]
(CILD19) DNAAF11 [HSA:23639] [KO:K19753]
(CILD20) ODAD1 [HSA:93233] [KO:K23732]
(CILD21) DRC1 [HSA:92749] [KO:K19754]
(CILD22) ZMYND10 [HSA:51364] [KO:K24030]
(CILD23) ODAD2 [HSA:55130] [KO:K24125]
(CILD24) RSPH1 [HSA:89765] [KO:K19755]
(CILD25) DNAAF4 [HSA:161582] [KO:K19758]
(CILD26) CFAP298 [HSA:56683] [KO:K24229]
(CILD27) CCDC65 [HSA:85478] [KO:K23728]
(CILD28) SPAG1 [HSA:6674] [KO:K19870]
(CILD29) CCNO [HSA:10309] [KO:K10861]
(CILD30) ODAD3 [HSA:115948] [KO:K23733]
(CILD32) RSPH3 [HSA:83861] [KO:K23965]
(CILD33) GAS8 [HSA:2622] [KO:K19942]
(CILD34) DNAJB13 [HSA:374407] [KO:K09519]
(CILD35) ODAD4 [HSA:83538] [KO:K24254]
(CILD36) DNAAF6 [HSA:139212] [KO:K24253]
(CILD37) DNAH1 [HSA:25981] [KO:K10408]
(CILD38) CFAP300 [HSA:85016] [KO:K24230]
(CILD39) LRRC56 [HSA:115399] [KO:K25425]
(CILD40) DNAH9 [HSA:1770] [KO:K10408]
(CILD41) GAS2L2 [HSA:246176] [KO:K24627]
(CILD42) MCIDAS [HSA:345643] [KO:K26119]
(CILD43) FOXJ1 [HSA:2302] [KO:K09402]
(CILD44) NEK10 [HSA:152110] [KO:K20879]
(CILD45) TTC12 [HSA:54970] [KO:K24652]
(CILD46) STK36 [HSA:27148] [KO:K06228]
(CILD47) TP73 [HSA:7161] [KO:K10148]
(CILD48) NME5 [HSA:8382] [KO:K20790]
(CILD49) CFAP74 [HSA:85452] [KO:K25607]
(CILD50) DNAH7 [HSA:56171] [KO:K10408]
(CILD51) BRWD1 [HSA:54014] [KO:K11798]
(CILD52) DAW1 [HSA:164781] [KO:K19760]
(CILD53) CLXN [HSA:79645] [KO:K27179]
H00571 Johanson-Blizzard syndrome ... defects, and sensorineural hearing loss are additional clinical features of the disease. The causative gene, ubiquitin-protein ligase E3 component N-recognin 1 (UBR1), is involved in protein destabilization. Congenital malformation UBR1 [HSA:197131] [KO:K10625]
H00572 Roberts-SC phocomelia syndrome ... postnatal growth retardation, craniofacial anomalies, and tetraphocomelia that is caused by mesomelic shortening. SC phocomelia is milder with less marked limb reduction. Mutations in the ESCO2 gene have been ... Congenital malformation ESCO2 [HSA:157570] [KO:K11268]
H00575 Renal tubular dysgenesis ... leading to oligohydramnios sequence. Homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1 may cause RTD. ... Congenital malformation REN [HSA:5972] [KO:K01380]
AGT [HSA:183] [KO:K09821]
ACE [HSA:1636] [KO:K01283]
AGTR1 [HSA:185] [KO:K04166]
H00576 Pierson syndrome ... neurological abnormalities. The nephrotic syndrome progresses to end-stage renal disease during the first year of life. Pierson syndrome is caused by a deficiency of 2-laminin in the basement membrane. Urinary system disease LAMB2 [HSA:3913] [KO:K06243]
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