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Entry Name Description Category Pathway Gene
H00381 Dengue ... by Aedes mosquitoes. Dengue is the most prevalent arboviral infection worldwide, and at least four different serotypes of DENV are known causing dengue fever and life-threatening dengue hemorrhagic fever ... Viral infectious disease
H00382 Mosquito-borne viral fever ... by arboviruses (arthropod-borne viruses) and transmitted by mosquitoes. Arboviruses are zoonotic viruses and consist of taxonomically different viruses, including flavivirus, alphavirus and bunyavirus. Viral infectious disease
H00383 Arthropod-borne viral fever ... and transmitted by mosquitoes, other insects, mites and ticks. Arboviruses are zoonotic viruses and actually consist of taxonomically different viruses, including flavivirus, alphavirus and bunyavirus. Viral infectious disease
H00409 Type 2 diabetes mellitus ... insulin resistance and beta cell dysfunction are thought to result from the complex interplay of many different pathways under the combined control of environmental and genetic factors. It is accepted that ... 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]
H00420 Familial partial lipodystrophy ... death of adipocytes, thus causing lipodystrophy. PPARG, PLIN1, and AKT2 are regulators of adipocyte differentiation. AKT2 is also involved in postreceptor insulin signaling. Thus, mutations in these three ... Inherited metabolic disorder (FPLD2) LMNA [HSA:4000] [KO:K12641]
(FPLD3) PPARG [HSA:5468] [KO:K08530]
(FPLD4) PLIN1 [HSA:5346] [KO:K08768]
(FPLD5) CIDEC [HSA:63924] [KO:K25878]
(FPLD6) LIPE [HSA:3991] [KO:K07188]
(FPLD7) CAV1 [HSA:857] [KO:K06278]
(FPLD8) ADRA2A [HSA:150] [KO:K04138]
(FPLD9) PLAAT3 [HSA:11145] [KO:K16817]
(APLD) LMNB2 [HSA:84823] [KO:K07611]
AKT2 [HSA:208] [KO:K04456]
H00434 Camurati-Engelmann disease
Progressive diaphyseal dysplasia 		... onset of CED is during early childhood with muscle weakness and limb pain. The mutations in TGF-beta 1 LAP domain modulate TGF-beta 1 activity and lead to increased proliferation of osteoblasts in CED. Congenital malformation TGFB1 [HSA:7040] [KO:K13375]
H00436 Osteopetrosis ... a3 subunit of the V-ATPase and CLCN7 gene. In cases with decreased osteoclast counts, osteoclast differentiation is impaired by mutations in RANKL or RANK. These RANK-deficient patients could be rescued ... Congenital malformation (OPTA1) LRP5 [HSA:4041] [KO:K03068]
(OPTA2/B4) CLCN7 [HSA:1186] [KO:K05016]
(OPTA3/B6) PLEKHM1 [HSA:9842] [KO:K23282]
(OPTB1) TCIRG1 [HSA:10312] [KO:K02154]
(OPTB2) TNFSF11 [HSA:8600] [KO:K05473]
(OPTB3) CA2 [HSA:760] [KO:K18245]
(OPTB5) OSTM1 [HSA:28962] [KO:K23863]
(OPTB7) TNFRSF11A [HSA:8792] [KO:K05147]
(OPTB8) SNX10 [HSA:29887] [KO:K17924]
(OPTB9) SLC4A2 [HSA:6522] [KO:K13855]
H00438 Nasu-Hakola disease
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 		... decade. The disease is caused by a mutation in the TREM2 or DAP12 gene that regulates osteoclast differentiation. TREM2-DAP12 is also expressed by microglia, thus neurological impairments seen in this ... Inherited metabolic disorder (PLOSL1) DAP12 [HSA:7305] [KO:K07992]
(PLOSL2) TREM2 [HSA:54209] [KO:K14378]
H00458 Syndromic craniosynostoses Craniosynostosis is the premature fusion of the cranial sutures and secondary distortion of skull shape. Syndromic craniosynostosis typically involves cranial sutures plus central nervous system and extracranial ... Congenital malformation (Pfeiffer) FGFR1 [HSA:2260] [KO:K04362]
(Apert, Pfeiffer, Crouzon, Jackson-Weiss, Beare-Stevenson, Antley-Bixler) FGFR2 [HSA:2263] [KO:K05093]
(Muenke) FGFR3 [HSA:2261] [KO:K05094]
(Saethre-Chotzen) TWIST1 [HSA:7291] [KO:K09069]
(Antley-Bixler) POR [HSA:5447] [KO:K00327]
(Carpenter) RAB23 [HSA:51715] [KO:K06234]
(Craniofrontonasal) EFNB1 [HSA:1947] [KO:K05463]
(Noonan) KRAS [HSA:3845] [KO:K07827]
(Baller-Gerold) RECQL4 [HSA:9401] [KO:K10730]
H00461 Ischiocoxopodopatellar syndrome
Coxopodopatellar syndrome
Small patella syndrome
Scott-Taor syndrome 		Ischiocoxopodopatellar syndrome, also known as small patella syndrome, is a skeletal dysplasia with anomalies of the pelvis. Ossification of the ischia and inferior pubic rami is also disrupted in patients. Congenital malformation TBX4 [HSA:9496] [KO:K10178]
H00494 Desbuquois syndrome
Desbuquois dysplasia (DBQD) 		... characteristic appearance of proximal femur, called 'Swedish key', is reported in the disease. Mutations in the calcium-activated nucleotidase 1 gene (CANT1) and xylosyltransferase 1 (XYLT1) have been identified. Congenital malformation (DBQD1) CANT1 [HSA:124583] [KO:K12304]
(DBQD2) XYLT1 [HSA:64131] [KO:K00771]
H00501 Fibrous dysplasia, polyostotic
McCune-Albright syndrome
Albright hereditary osteodystrophy 		... subcutaneous ossification associated with short stature, round face and brachydactyly. Mosaic GNAS mutations that results in abnormal differentiation of osteoblastic cells are responsible for the condition. Congenital malformation GNAS [HSA:2778] [KO:K04632]
H00513 Transient neonatal diabetes mellitus ... disorder of insulin production that resolves by age 18 months but can reappear later in life. TNDM is different from type 1 diabetes since no islet cell antibodies or autoimmune phenomenon were found in these ... Endocrine and metabolic disease (TNDM1) ZFP57 [HSA:346171] [KO:K09228]
(TNDM1) PLAGL1 [HSA:5325] [KO:K19485]
(TNDM2) ABCC8 [HSA:6833] [KO:K05032]
(TNDM3) KCNJ11 [HSA:3767] [KO:K05004]
H00521 Cleidocranial dysplasia ... of the cranial sutures, and dental abnormalities resulted from defective intramembranous ossification. Mutations in RUNX2, which is involved in osteoblast differentiation, are the causes of the disease. Congenital malformation (CLCD1) RUNX2 [HSA:860] [KO:K09278]
(CLCD2) CBFB [HSA:865] [KO:K25826]
H00525 Disorders of mitochondrial fatty-acid oxidation ... acids and decreases in cell energy metabolism due to enzyme or transporter defects in the fatty acid metabolic pathway. The symptoms and treatment vary between different fatty acid oxidation disorders. Inherited metabolic disorder (MCAD) ACADM [HSA:34] [KO:K00249]
(SCAD) ACADS [HSA:35] [KO:K00248]
(VLCAD) ACADVL [HSA:37] [KO:K09479]
(MTP) HADHA [HSA:3030] [KO:K07515]
(MTP) HADHB [HSA:3032] [KO:K07509]
(CPT I) CPT1A [HSA:1374] [KO:K08765]
(CPT II) CPT2 [HSA:1376] [KO:K08766]
(CACT) SLC25A20 [HSA:788] [KO:K15109]
(CDSP) SLC22A5 [HSA:6584] [KO:K08202]
(HAD) HADH [HSA:3033] [KO:K00022]
(DECR) NADK2 [HSA:133686] [KO:K00858]
(ACAD9) ACAD9 [HSA:28976] [KO:K15980]
(ECHS1) ECHS1 [HSA:1892] [KO:K07511]
H00564 Primary ciliary dyskinesia ... is an autosomal recessive disorder with recurrent oto-sinopulmonary infections, bronchiectasis, and infertility owing to impaired motile ciliary function. Alterations in the left-right organization of the ... 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]
H00566 Distal myopathy with anterior tibial onset Distal myopathy with anterior tibial onset is an autosomal recessive muscle dystrophy caused by a dysferlin mutation. The disease is rapidly progressive, leading to severe proximal weakness. Nervous system disease; Musculoskeletal disease DYSF [HSA:8291] [KO:K18261]
H00568 Myotonic dystrophy Myotonic dystrophy (DM) is a complex multisystemic disorder linked to two different genetic loci. DM1 is caused by an expansion of a CTG repeat located in the 3' untranslated region (UTR) of DMPK. DM2 ... Nervous system disease; Musculoskeletal disease (DM1) DMPK [HSA:1760] [KO:K08788]
(DM2) CNBP [HSA:7555] [KO:K09250]
H00575 Renal tubular dysgenesis ... renal tubular dysgenesis (RTD) is a rare lethal disorder characterized by the absence or incomplete differentiation of proximal tubules. Patients present persistent fetal anuria leading to oligohydramnios ... Congenital malformation REN [HSA:5972] [KO:K01380]
AGT [HSA:183] [KO:K09821]
ACE [HSA:1636] [KO:K01283]
AGTR1 [HSA:185] [KO:K04166]
H00581 Alport syndrome ... autosomal dominant form has been observed in a few families. Male patients with X-linked Alport syndrome suffer from severe renal symptoms that progress to end-stage renal disease associated with deafness which ... Congenital malformation (ATS1) COL4A5 [HSA:1287] [KO:K06237]
(ATS2) COL4A4 [HSA:1286] [KO:K06237]
(ATS3A_3B) COL4A3 [HSA:1285] [KO:K06237]
H00590 Congenital muscular dystrophies (CMD/MDC) ... alpha2 chain and integrin alpha7; defects in genes encoding for putative or demonstrated glycosyltransferases, which include POMT1, POMT2, POMGnT1, fukutin, fukutin-related protein (FKRP), Large, and ISPD; ... Nervous system disease; Musculoskeletal disease (ITGA7-deficient CMD) ITGA7 [HSA:3679] [KO:K06583]
(LMNA-deficient CMD) LMNA [HSA:4000] [KO:K12641]
(MDCDC) TRIP4 [HSA:9325] [KO:K23398]
(MDCMC) CHKB [HSA:1120] [KO:K14156]
(MDCCAID) INPP5K [HSA:51763] [KO:K24222]
H00594 Distal myopathy ... muscular weakness and atrophy beginning in the hands, forearm, lower legs or feet. Currently almost 20 different entities of distal muscular dystrophies have been genetically determined. Half of the genes have ... Nervous system disease; Musculoskeletal disease (MMD1,DMAT) DYSF [HSA:8291] [KO:K18261]
(MMD3) ANO5 [HSA:203859] [KO:K19480]
(NM) GNE [HSA:10020] [KO:K12409]
(DMRV) SQSTM1 [HSA:8878] [KO:K14381]
(WDM) TIA1 [HSA:7072] [KO:K13201]
(TMD) TTN [HSA:7273] [KO:K12567]
(MPD1) MYH7 [HSA:4625] [KO:K17751]
(MPD4) FLNC [HSA:2318] [KO:K27393]
(MPD5) ADSS1 [HSA:122622] [KO:K01939]
(MPD6) ACTN2 [HSA:88] [KO:K21073]
(MPD7) SMPX [HSA:23676] [KO:K24209]
(MPDT) CAV3 [HSA:859] [KO:K12959]
H00600 Mullerian agenesis
Mayer Rokitansky Kuster Hauser syndrome 		... hyperandrogenism is caused by mutations in the WNT4 gene. WNT4, a secreted protein that suppresses male sexual differentiation, is thought to repress the biosynthesis of gonadal androgen in female mammals. Reproductive system disease WNT4 [HSA:54361] [KO:K00408]
H00608 46,XY disorder of sex development due to testosterone secretion defect ... structures. Several enzymatic defects that result in insufficient production of testosterone have been reported. And impaired differentiation of Leydig cell, which secretes testosterone, can lead to 46,XY DSD. Reproductive system disease LHCGR [HSA:3973] [KO:K04248]
HSD17B3 [HSA:3293] [KO:K10207]
SRD5A2 [HSA:6716] [KO:K12344]
H00609 Persistent Mullerian duct syndrome ... hormone (AMH) gene or the AMH receptor gene (AMHR2). AMH is secreted mainly by immature Sertoli cells at the time of sex differentiation in fetal life, and have a role in the regression of Mullerian ducts. Reproductive system disease (Type I) AMH [HSA:268] [KO:K04665]
(Type II) AMHR2 [HSA:269] [KO:K04672]
H00616 Bowen-Conradi syndrome ... and failure to thrive. Recently, a missense mutation in EMG1 was reported to be the cause of BCS. EMG1 is a putative methyltransferase that is required for biogenesis of the 40S subunit of the ribosome. Ribosomopathy EMG1 [HSA:10436] [KO:K14568]
H00625 Tooth agenesis
Hypodontia 		Tooth agenesis, or hypodontia/oligodontia, refers to the congenital absence of a few teeth without any systemic disorders. Tooth development is a complex process that involves interactions between the ... Congenital malformation (STHAG1) MSX1 [HSA:4487] [KO:K09341]
(STHAG3) PAX9 [HSA:5083] [KO:K09382]
(STHAG4) WNT10A [HSA:80326] [KO:K01357]
(STHAG7) LRP6 [HSA:4040] [KO:K03068]
(STHAG8) WNT10B [HSA:7480] [KO:K01357]
(STHAG9) GREM2 [HSA:64388] [KO:K23318]
(STHAG10) TSPEAR [HSA:54084] [KO:K24437]
(STHAGX1) EDA [HSA:1896] [KO:K05480]
(DASS) LTBP3 [HSA:4054] [KO:K08023]
H00632 Heterotaxy
Situs ambiguus 		... left-right axis is called situs inversus, while partial alterations in the left-right organization is referred to as heterotaxy. Heterotaxy is associated with perturbation of nodal signaling during embryogenesis Congenital malformation (HTX1) ZIC3 [HSA:7547] [KO:K18487]
(HTX2) CFC1 [HSA:55997] [KO:K25454]
(HTX4) ACVR2B [HSA:93] [KO:K13596]
(HTX5) NODAL [HSA:4838] [KO:K04666]
(HTX6) CFAP53 [HSA:220136] [KO:K24225]
(HTX7) MMP21 [HSA:118856] [KO:K08000]
(HTX8) PKD1L1 [HSA:168507] [KO:K04987]
(HTX9) MNS1 [HSA:55329] [KO:K25441]
(HTX10) CFAP52 [HSA:146845] [KO:K24728]
(HTX11) CFAP45 [HSA:25790] [KO:K25551]
(HTX12) CIROP [HSA:100128908]
(RAI) GDF1 [HSA:2657] [KO:K05495]
H00641 ADULT syndrome ... characterized by ectrodactyly, excessive freckling, nail dysplasia, obstruction of lacrimal ducts, and hypodontia. ADULT syndrome differs from EEC syndrome, an allelic disorder, by the absence of facial clefting. Congenital malformation TP63 (gain of function) [HSA:8626] [KO:K10149]
H00656 Scapuloperoneal myopathy ... peroneal muscles. Both neurogenic and myopathic scapuloperoneal syndromes exist, the latter being referred to as scapuloperoneal myopathy (SPM). Distinct subtypes of SPM are caused by mutations in the ... Nervous system disease; Musculoskeletal disease (SPMM) MYH7 [HSA:4625] [KO:K17751]
(SCPNK) DES [HSA:1674] [KO:K07610]
(SPM) FHL1 [HSA:2273] [KO:K14365]
H00677 Aplasia of lacrimal and salivary glands ... characterized by insufficient development of the lacrimal and salivary systems. Patients with ALSG suffer from irritable eyes and dryness of the mouth. Mutations in FGF10 were recently described in ALSG Congenital malformation FGF10 [HSA:2255] [KO:K04358]
H00680 Primary failure of tooth eruption Primary failure of tooth eruption (PFE) is a condition in which tooth retention occurs without mechanical interference. Defects in PTHR1 are the cause of PFE. Digestive system disease PTHR1 [HSA:5745] [KO:K04585]
H00689 Delayed sleep phase disorder ... relative to the desired. The single nucleotide polymorphism (Ala129Thr) in Arylalkylamine N-acetyltransferase (AANAT), a rate-limiting enzyme in melatonin synthesis, has been identified in patients with delayed ... Nervous system disease CRY1 [HSA:1407] [KO:K02295]
H00698 Nemaline myopathy ... predominant involvement of proximal limb and respiratory muscles. Currently, NM is classified into six different forms: severe congenital (neonatal) form; Amish NM, intermediate congenital form; typical congenital ... Nervous system disease; Musculoskeletal disease (NEM1) TPM3 [HSA:7170] [KO:K09290]
(NEM2) NEB [HSA:4703] [KO:K18267]
(NEM3) ACTA1 [HSA:58] [KO:K10354]
(NEM4) TPM2 [HSA:7169] [KO:K10374]
(NEM5A/5B/5C) TNNT1 [HSA:7138] [KO:K10372]
(NEM6) KBTBD13 [HSA:390594] [KO:K21913]
(NEM7) CFL2 [HSA:1073] [KO:K05765]
(NEM8) KLHL40 [HSA:131377] [KO:K10473]
(NEM9) KLHL41 [HSA:10324] [KO:K10473]
(NEM10) LMOD3 [HSA:56203] [KO:K22030]
(NEM11) MYPN [HSA:84665] [KO:K22028]
H00718 Sotos syndrome ... heterogeneous group of disorders resulting from the dysfunction of various processes involving cell proliferation, cell growth, or apoptosis. Within this group, Sotos syndrome (SOTOS) is characterised by overgrowth ... Congenital malformation (SOTOS1) NSD1 [HSA:64324] [KO:K15588]
(SOTOS2) NFIX [HSA:4784] [KO:K09171]
(SOTOS3) APC2 [HSA:10297] [KO:K02085]
H00736 Dorfman-Chanarin syndrome
Chanarin-Dorfman syndrome 		Chanarin-Dorfman syndrome (CDS), also referred to as neutral-lipid-storage disease with ichthyosis, is a rare autosomal recessive disease of lipid metabolism. Cutaneous finding is congenital, generalized ... Inherited metabolic disorder ABHD5 [HSA:51099] [KO:K13699]
H00744 Potassium-aggravated myotonia
Sodium channel myotonia 		... phenotypes: myotonia fluctuans, myotonia permanens, and acetazolamide-sensitive myotonia. These disorders differ from the other nondystrophic myotonias in that: (1) the myotonia is exacerbated by potassium ingestion; ... Nervous system disease; Musculoskeletal disease SCN4A [HSA:6329] [KO:K04837]
H00747 Thyrotoxic hypokalemic periodic paralysis ... during paralysis, but is not always detected; administration of potassium during the attacks should be offered cautiously, preferably orally, to prevent rebound hyperkalemia. Mutations have been identified ... Nervous system disease; Musculoskeletal disease KCNJ18 [HSA:100134444] [KO:K05005]
H00759 Waardenburg syndrome ... musculoskeletal abnormalities. WS 4 is characterized by the presence of an aganglionic megacolon. WS is associated with six genes of melanocytic differentiation: PAX3, MITF, SNAI2, SOX10, EDNRB, and EDN3. Inherited metabolic disorder (WS1/3) PAX3 [HSA:5077] [KO:K09381]
(WS2A) MITF [HSA:4286] [KO:K09455]
(WS2E/4C) SOX10 [HSA:6663] [KO:K09270]
(WS2F) KITLG [HSA:4254] [KO:K05461]
(WS4A) EDNRB [HSA:1910] [KO:K04198]
(WS4B) EDN3 [HSA:1908] [KO:K05227]
H00762 Spondyloepiphyseal dysplasia with congenital joint dislocations
Spondyloepiphyseal dysplasia, Omani type 		... dislocations are common. Thoracic kyphoscoliosis develops in late childhood. Affected individuals are homozygous for a missense mutation of CHST3 encoding the enzyme chondroitin 6-O-sulfotransferase-1 (C6ST-1). Congenital malformation CHST3 [HSA:9469] [KO:K01020]
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