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Entry Name Description Category Pathway Gene
H00351 Chlamydial pneumonia ... intracellular bacteria that causes human respiratory infections. Most acute respiratory infections are asymptomatic or mildly symptomatic. Repeated or prolonged exposure to Cp. pneumoniae is associated with asthmatic ... Bacterial infectious disease
H00360 Amoebiasis ... risk of infection. Although the majority of individuals infected with E. histolytica remain asymptomatic, some present with amoebic colitis and disseminated disease. Ingestion of contaminated water and ... Parasitic infectious disease hsa05146 Amoebiasis
H00361 Malaria ... Anopheline mosquitoes. Plasmodium infections result in a spectrum of clinical effects, including asymptomatic parasitemia, severe malaria, and death. Most severe cases occur in sub-Saharan Africa. In severe ... Parasitic infectious disease hsa05144 Malaria ACKR1 (protection) [HSA:2532] [KO:K06574]
CD36 (susceptibility/reduced risk) [HSA:948] [KO:K06259]
CISH (susceptibility) [HSA:1154] [KO:K04701]
CR1 (resistance) [HSA:1378] [KO:K04011]
FCGR2A (susceptibility) [HSA:2212] [KO:K06472]
FCGR2B (resistance) [HSA:2213] [KO:K12560]
G6PD (resistance) [HSA:2539] [KO:K00036]
GYPA (resistance) [HSA:2993] [KO:K06575]
GYPB (resistance) [HSA:2994] [KO:K20925]
GYPC (resistance) [HSA:2995] [KO:K06576]
HBB (resistance) [HSA:3043] [KO:K13823]
ICAM1 (susceptibility) [HSA:3383] [KO:K06490]
NOS2 (resistance) [HSA:4843] [KO:K13241]
SLC4A1 (resistance) [HSA:6521] [KO:K06573]
TIRAP (protection) [HSA:114609] [KO:K05403]
TNF (susceptibility) [HSA:7124] [KO:K03156]
H00365 Herpes simplex virus infection
HSV infection 		... infects the human host via mucosal surfaces or damaged skin, and most primary infections are asymptomatic. HSV-1 is mainly associated with orofacial lesions, yet it is also the cause of infectious blindness ... Viral infectious disease hsa05168 Herpes simplex virus 1 infection
H00367 Infectious mononucleosis
Epstein-Barr virus (EBV) infection 		... defined as a clinical triad of fever, pharyngitis, and adenopathy. EBV establishes a life-long asymptomatic infection in B cells and can contribute to oncogenesis including Burkitt's lymphoma, nasopharyngeal ... Viral infectious disease hsa05169 Epstein-Barr virus infection
H00387 B virus infection Macacine herpesvirus 1, also known as B virus, is an alpha-herpesvirus that naturally infects Asiatic macaques. It is transmitted by exposure to contaminated bodily fluids. In macaques, the infection is ... Viral infectious disease
H00409 Type 2 diabetes mellitus ... tissues (skeletal muscle, liver, adipose tissue) and insufficient compensatory insulin secretion by pancreatic beta cells. Both insulin resistance and beta cell dysfunction are thought to result from the complex ... Endocrine and metabolic disease hsa04930 Type II diabetes mellitus IGF2BP2 [HSA:10644] [KO:K17392]
CAPN10 [HSA:11132] [KO:K08579]
SLC30A8 [HSA:169026] [KO:K14695]
KCNJ11 [HSA:3767] [KO:K05004]
MTNR1B [HSA:4544] [KO:K04286]
ENPP1 [HSA:5167] [KO:K01513]
PPARG [HSA:5468] [KO:K08530]
HNF1B [HSA:6928] [KO:K08034]
TCF7L2 [HSA:6934] [KO:K04491]
WFS1 [HSA:7466] [KO:K14020]
H00435 Toxoplasmosis ... the environment or, less frequently, directly from feline feces. The parasite usually causes asymptomatic infection but in immunocompromised individuals, it can result in fatal disease with encephalitis ... Parasitic infectious disease hsa05145 Toxoplasmosis
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 is associated ... Ribosomopathy (SDS1) SBDS [HSA:51119] [KO:K14574]
(SDS2) EFL1 [HSA:79631] [KO:K14536]
H00489 LCHAD deficiency
Long-chain 3-hydroxyacyl CoA dehydrogenase deficiency 		... the HELLP syndrome (hemolysis, elevated liver-enzyme levels, and a low platelet count) are serious hepatic disorders that may occur during pregnancy in women whose fetuses are later found to have a LCHAD ... Inherited metabolic disorder HADHA [HSA:3030] [KO:K07515]
H00512 Permanent neonatal diabetes mellitus ... PNDM are heterozygous mutations in the KCNJ11, INS and ABCC8 genes that play a critical role in insulin secretion from pancreatic beta-cells. The responsible genes remain unknown in up to 40% of patients. Endocrine and metabolic disease (PNDM1) GCK [HSA:2645] [KO:K12407]
(PNDM2) KCNJ11 [HSA:3767] [KO:K05004]
(PNDM3) ABCC8 [HSA:6833] [KO:K05032]
(PNDM4) INS [HSA:3630] [KO:K04526]
(PAGEN1) PDX1 [HSA:3651] [KO:K07594]
(PACA) PTF1A [HSA:256297] [KO:K09073]
(IPEX) FOXP3 [HSA:50943] [KO:K10163]
(NDH) GLIS3 [HSA:169792] [KO:K09232]
H00533 Hereditary hemorrhagic telangiectasia
Osler disease 		... cutaneomucosal telangiectases. HHT is often associated with arteriovenous malformations in the pulmonary, hepatic, cerebral, and spinal circulations. The disease arises from defects in TGF-beta signaling. It has ... Congenital malformation (HHT1) ENG [HSA:2022] [KO:K06526]
(HHT2) ACVRL1 [HSA:94] [KO:K13594]
(HHT5) GDF2 [HSA:2658] [KO:K05503]
(JPHT) SMAD4 [HSA:4089] [KO:K04501]
H00535 Lymphatic malformation Lymphatic malformation (LMPHM), formerly known as hereditary lymphedema (LMPH), is a form of generalized lymphatic dysplasia characterized by chronic lesions of the extremities due to insufficient lymphatic ... Congenital malformation (LMPHM1/LMPH1A) FLT4 [HSA:2324] [KO:K05097]
(LMPHM3/LMPH1C) GJC2 [HSA:57165] [KO:K07619]
(LMPHM4/LMPH1D) VEGFC [HSA:7424] [KO:K05449]
(LMPHM6/LMPH3) PIEZO1 [HSA:9780] [KO:K22128]
(LMPHM7) EPHB4 [HSA:2050] [KO:K05113]
(LMPHM8) CALCRL [HSA:10203] [KO:K04577]
(LMPHM9) CELSR1 [HSA:9620] [KO:K04600]
(LMPHM10) ANGPT2 [HSA:285] [KO:K05466]
(LMPHM11) TIE1 [HSA:7075] [KO:K05120]
(LMPHM12) MDFIC [HSA:29969]
(LMPHM13) THSD1 [HSA:55901] [KO:K24433]
(LMPHM14) ERG [HSA:2078] [KO:K09435]
H00543 Renal-hepatic-pancreatic dysplasia Renal-hepatic-pancreatic dysplasia (RHPD) is a rare lethal disorder characterized by pancreatic cyst formation in addition to the combination of renal dysplasia and hepatic fibrosis. NPHP3-null mutations ... Congenital malformation (RHPD1) NPHP3 [HSA:27031] [KO:K19360]
(RHPD2) NEK8 [HSA:284086] [KO:K20877]
H00551 Alagille syndrome Alagille syndrome (ALGS) is a multi-system hereditary disorder characterized by hepatic bile duct paucity and cardiovascular malformations including pulmonic stenosis/ peripheral pulmonary stenosis and ... Congenital malformation (ALGS1) JAG1 [HSA:182] [KO:K06052]
(ALGS2) NOTCH2 [HSA:4853] [KO:K20994]
H00559 von Hippel-Lindau syndrome ... system and other organs. The most frequent tumors are cerebellar and retinal haemangioblastomas, pancreatic neuroendocrine tumors, renal cell carcinoma, phaeochromocytoma in the adrenal gland, epididymal ... Congenital malformation VHL [HSA:7428] [KO:K03871]
CCND1 [HSA:595] [KO:K04503]
H00571 Johanson-Blizzard syndrome ... is a rare, sometimes fatal disorder that is inherited in autosomal recessive pattern. Exocrine pancreatic insufficiency including decreased secretion of lipases and trypsinogen is the most consistent feature ... Congenital malformation UBR1 [HSA:197131] [KO:K10625]
H00577 Symptomatic generalized epilepsies Symptomatic generalized epilepsies are considered the consequence of a known or suspected disorder of the central nervous system. They include West syndrome, Lennox-Gastaut syndrome, Dravet syndrome, Epilepsy ... Nervous system disease (RMFSL) BRAT1 [HSA:221927] [KO:K23112]
(EPILX) SYN1 [HSA:6853] [KO:K19941]
(EPILX2) GABRA3 [HSA:2556] [KO:K05175]
H00593 Limb-girdle muscular dystrophy ... recessive forms (LGMDR). According to the disease mechanisms, the LGMDs may be grouped as follows: dystrophin-dystroglycan complex defects, membrane defects, enzymatic, sarcomeric, and nuclear lamina. Nervous system disease; Musculoskeletal disease (LGMDD1) DNAJB6 [HSA:10049] [KO:K09512]
(LGMDD2) TNPO3 [HSA:23534] [KO:K15436]
(LGMDD3) HNRNPDL [HSA:9987] [KO:K13044]
(LGMDD4/R1) CAPN3 [HSA:825] [KO:K08573]
(LGMDR2) DYSF [HSA:8291] [KO:K18261]
(LGMDR3) SGCA [HSA:6442] [KO:K12565]
(LGMDR4) SGCB [HSA:6443] [KO:K12566]
(LGMDR5) SGCG [HSA:6445] [KO:K12564]
(LGMDR6) SGCD [HSA:6444] [KO:K12563]
(LGMDR7) TCAP [HSA:8557] [KO:K19879]
(LGMDR8) TRIM32 [HSA:22954] [KO:K10607]
(LGMDR9) FKRP [HSA:79147] [KO:K19873]
(LGMDR10) TTN [HSA:7273] [KO:K12567]
(LGMDR11) POMT1 [HSA:10585] [KO:K00728]
(LGMDR12) ANO5 [HSA:203859] [KO:K19480]
(LGMDR13) FKTN [HSA:2218] [KO:K19872]
(LGMDR14) POMT2 [HSA:29954] [KO:K00728]
(LGMDR15) POMGNT1 [HSA:55624] [KO:K09666]
(LGMDR16) DAG1 [HSA:1605] [KO:K06265]
(LGMDR17) PLEC [HSA:5339] [KO:K10388]
(LGMDR18) TRAPPC11 [HSA:60684] [KO:K20308]
(LGMDR19) GMPPB [HSA:29925] [KO:K00966]
(LGMDR20) CRPPA [HSA:729920] [KO:K21031]
(LGMDR21) POGLUT1 [HSA:56983] [KO:K13667]
(LGMDR23) LAMA2 [HSA:3908] [KO:K05637]
(LGMDR24) POMGNT2 [HSA:84892] [KO:K18207]
(LGMDR25) BVES [HSA:11149] [KO:K21108]
(LGMDR26) POPDC3 [HSA:64208] [KO:K26207]
(LGMDR27) JAG2 [HSA:3714] [KO:K21635]
(LGMDR28) HMGCR [HSA:3156] [KO:K00021]
(MDRCMTT) LIMS2 [HSA:55679] [KO:K23354]
(MRRSDC) TOR1AIP1 [HSA:26092] [KO:K23001]
H00608 46,XY disorder of sex development due to testosterone secretion defect ... incomplete intrauterine masculinization, and the presence or absence of Mullerian structures. Several enzymatic defects that result in insufficient production of testosterone have been reported. And impaired ... Reproductive system disease LHCGR [HSA:3973] [KO:K04248]
HSD17B3 [HSA:3293] [KO:K10207]
SRD5A2 [HSA:6716] [KO:K12344]
H00624 Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of rare, genetic autosomal recessive disorders characterized by unremitting cholestasis and progression to liver failure. The ... Inherited metabolic disorder (PFIC1) ATP8B1 [HSA:5205] [KO:K01530]
(PFIC2) ABCB11 [HSA:8647] [KO:K05664]
(PFIC3) ABCB4 [HSA:5244] [KO:K05659]
(PFIC4) TJP2 [HSA:9414] [KO:K06098]
(PFIC5) NR1H4 [HSA:9971] [KO:K08537]
(PFIC6) SLC51A [HSA:200931] [KO:K14360]
(PFIC7) USP53 [HSA:54532]
(PFIC8) KIF12 [HSA:113220] [KO:K10399]
(PFIC9) ZFYVE19 [HSA:84936] [KO:K24778]
(PFIC10) MYO5B [HSA:4645] [KO:K10357]
(PFIC11) SEMA7A [HSA:8482] [KO:K06529]
(PFIC12) VPS33B [HSA:26276] [KO:K23281]
H00655 McLeod syndrome ... hematopoietic systems. Mild myopathy is a common manifestation in most cases. Patients often present with mild, asymptomatic hyperCKemia. The absence of the membrane transport protein XK seems to be causative. Nervous system disease (MCLDS) XK [HSA:7504] [KO:K19522]
H00668 Anemia due to disorders of glutathione metabolism ... glutathione metabolism. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymatic disorder of red blood cells in humans. It is estimated that about 400 million people are affected ... Hematologic disease G6PD [HSA:2539] [KO:K00036]
GPX1 [HSA:2876] [KO:K00432]
GCLC [HSA:2729] [KO:K11204]
GSS [HSA:2937] [KO:K21456]
GSR [HSA:2936] [KO:K00383]
H00726 Meesmann corneal dystrophy ... mutations in KRT3 or KRT12 gene. It presents as ocular irritation but some patients may remain asymptomatic for many years. Characteristic intraepithelial cysts on the anterior cornea are observed. Most cases ... Nervous system disease KRT3 [HSA:3850] [KO:K07605]
KRT12 [HSA:3859] [KO:K07604]
H00742 Neonatal ichthyosis-sclerosing cholangitis (NISCH) syndrome
Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) 		... tight-junction protein expressed in liver and skin. Patients present epidermal scaling, pruritus, and neonatal cholestatic jaundice. Alopecia is also seen and cholestasis often progresses to sclerosing cholangitis. Congenital malformation CLDN1 [HSA:9076] [KO:K06087]
H00764 Chromosome 5p deletion syndrome
Cri du chat syndrome
Cat cry syndrome 		... size occurring on the short arm of chromosome 5. The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics ... Chromosomal abnormality SEMA5A [HSA:9037] [KO:K06841]
CTNND2 [HSA:1501] [KO:K23491]
TERT [HSA:7015] [KO:K11126]
H00783 Febrile seizures Febrile seizures (FS), or febrile convulsions (FEB), are acute symptomatic seizures that occur in response to fever and represent the most common form of childhood seizures. Generalized epilepsy with febrile ... Nervous system disease (FEB2) HCN2 [HSA:610] [KO:K04955]
(FEB3) SCN1A [HSA:6323] [KO:K04833]
(FEB4) ADGRV1 [HSA:84059] [KO:K18263]
(FEB8) GABRG2 [HSA:2566] [KO:K05186]
(FEB11) CPA6 [HSA:57094] [KO:K08782]
H00812 Trichomoniasis ... parasite. Women with trichomoniasis have a wide spectrum of symptoms, ranging from a relatively asymptomatic state in one-third of cases to severe irritation and inflammation. Several complications associated ... Parasitic infectious disease
H00834 Guanidinoacetate methyltransferase deficiency ... deficiency is an autosomal recessive inborn error of creatine biosynthesis caused by a deficiency of hepatic guanidinoacetate methyltransferase, resulting in a lack of creatine and an accumulation of guanidinoacetic ... Inherited metabolic disorder GAMT [HSA:2593] [KO:K00542]
H00860 Benign hereditary chorea Benign hereditary chorea (BHC) is a rare, autosomal dominant, static disorder characterized by onset of chorea in conjunction with hypothyroidism and respiratory problems. Features supporting this diagnosis ... Nervous system disease TTF1 [HSA:7270] [KO:K15225]
H00861 Pancreatic agenesis Pancreatic agenesis is a rare disorder resulted from a failure of the pancreas to develop. It can be associated with the severe form of permanent neonatal diabetes mellitus. Mutations in insulin promoter ... Digestive system disease (PAGEN1) PDX1 [HSA:3651] [KO:K07594]
(PAGEN2) PTF1A [HSA:256297] [KO:K09073]
H00878 Cystic leukoencephalopathy without megalencephaly ... is an autosomal recessive infantile-onset neurological disorder. The affected individuals are asymptomatic at birth and show a static encephalopathy with normo- or microcephaly and psychomotor impairment ... Inherited metabolic disorder RNASET2 [HSA:8635] [KO:K01166]
H00886 Donnai-Barrow syndrome
Faciooculoacousticorenal syndrome 		... ophthalmological abnormalities (high myopia, iris stromal hypoplasia), severe sensorineural deafness, congenital diaphragmatic hernia, and proteinuria. The diagnosis is confirmed by detection of mutations in LRP2. Congenital malformation LRP2 [HSA:4036] [KO:K06233]
H00896 Lymphangioleiomyomatosis ... respiratory failure. Another characteristic feature of the disease is the development of fluid-filled lymphatic cystic structures (lymphangioleiomyomas) in the axial lymphatics and of angiomyolipomas in the kidneys ... Respiratory system disease TSC1 [HSA:7248] [KO:K07206]
TSC2 [HSA:7249] [KO:K07207]
H00904 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
Urban-Rifkin-Davis syndrome 		... musculoskeletal, craniofacial, and dermal development. Respiratory distress with cystic and atelectatic changes in the lungs could be fatal in this disease. Mutations in LTBP4 lead to lack of deposition ... Congenital malformation LTBP4 [HSA:8425] [KO:K08023]
H00916 Congenital central hypoventilation syndrome ... central hypoventilation syndrome (CCHS) is a disorder characterized by an idiopathic failure of the automatic control of breathing. It is frequently associated with a broad spectrum of dysautonomic symptoms ... Nervous system disease (CCHS1) PHOX2B [HSA:8929] [KO:K09330]
(CCHS2) MYOH1 [HSA:283446] [KO:K10356]
(CCHS3) LBX1 [HSA:10660] [KO:K09353]
ASCL1 [HSA:429] [KO:K09067]
H00920 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Patients with this disease suffer from exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis. Mutations in COX4I2, an essential component of cytochrome c oxidase complex ... Inherited metabolic disorder, Mitochondrial disease COX4I2 [HSA:84701] [KO:K02263]
H00933 Hereditary pancreatitis
Hereditary chronic pancreatitis 		... penetrance (80%). Patients had recurrent pancreatitis with impairment of endocrine and exocrine pancreatic function, maldigestion, bile duct and duodenal obstruction, and rarely pancreatic cancer. The age ... Digestive system disease PRSS1 [HSA:5644] [KO:K01312]
SPINK1 [HSA:6690] [KO:K23417]
CFTR [HSA:1080] [KO:K05031]
PRSS2 [HSA:5645] [KO:K01312]
CTRC [HSA:11330] [KO:K01311]
H00948 Renal hypouricemia ... And it has been suggested that RHUC is caused by mutations in URAT1 or GLUT9. Most of patients were asymptomatic, but some had nephrolithiasis or were predisposed to exercise-induced acute renal failure. Urinary system disease (RHUC1) SLC22A12 [HSA:116085] [KO:K08208]
(RHUC2) SLC2A9 [HSA:56606] [KO:K08146]
H00950 Arthrogryposis, renal dysfunction, and cholestasis
ARC syndrome 		... dysfunction and cholestasis (ARC) syndrome is a fatal multisystem disorder that causes neonatal intrahepatic cholestasis. It also exhibits notable clinical variability showing anemia, ichthyosis, and diarrhoea ... Congenital malformation VPS33B [HSA:26276] [KO:K23281]
VIPAR [HSA:63894] [KO:K23287]
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