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Entry Name Description Category Pathway Gene
H00702 Cap myopathy ... disarranged myofibrils with enlarged Z discs and no thick filaments. The severity of the disease is related to the number of fibers affected. Therefore, patients may present with a neonatal fatal form ... Nervous system disease; Musculoskeletal disease TRM2 [HSA:7169] [KO:K10374]
TRM3 [HSA:7170] [KO:K09290]
ACTA1 [HSA:58] [KO:K10354]
H00705 Myotonia congenita ... ClC-1 leads to an increase in sarcolemmal excitability that clinically presents as delayed muscular relaxation (myotonia). Myotonia congenita may be inherited as either an autosomal dominant (Thomsen disease) ... Nervous system disease; Musculoskeletal disease CLCN1 [HSA:1180] [KO:K05010]
H00709 Birk Barel mental retardation syndrome (BBMRS)
Birk-Barel syndrome (BIBAS) 		Birk Barel mental retardation syndrome (BBMRS) is characterized by mental retardation, hypotonia, hyperactivity, and facial dysmorphism. The potassium channel KCNK9 gene, which is responsible for the disease ... Congenital malformation KCNK9 [HSA:51305] [KO:K04919]
H00711 Russell-Silver syndrome
Silver-Russell syndrome 		... syndrome (SRS), is an imprinting disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry and further less characteristic features ... Congenital malformation (SRS3) IGF2 [HSA:3481] [KO:K13769]
(SRS4) PLAG1 [HSA:5324] [KO:K19484]
(SRS5) HMGA2 [HSA:8091] [KO:K09283]
H00713 Beckwith-Wiedemann syndrome ... telomeric ICR1, hypermethylation of the H19 promoter and loss of imprinting of IGF2 have been reported in a small fraction of patients with BWS. A few BWS cases could be related to NSD1 deletions or mutations. Congenital malformation CDKN1C [HSA:1028] [KO:K09993]
IGF2 [HSA:3481] [KO:K13769]
KCNQ1 [HSA:3784] [KO:K04926]
H00727 Athabascan brainstem dysgenesis syndrome
Bosley-Salih-Alorainy syndrome 		Athabascan brainstem dysgenesis syndrome (ABDS) are HOXA1-related disorders marked by restricted ocular motility, sensorineural deafness, cerebrovascular malformations, and mental retardation. Cardiac ... Congenital malformation HOXA1 [HSA:3198] [KO:K09301]
H00745 Hyperkalemic periodic paralysis ... suggesting genetic heterogeneity. HYPP is characterized by attacks of flaccid limb paralysis or, rarely, weakness of the eye and throat muscles. Triggers for these attacks include ingestion of potassium-rich ... Nervous system disease; Musculoskeletal disease (HYPP) SCN4A [HSA:6329] [KO:K04837]
H00757 Dyggve-Melchior-Clausen disease ... spondylo-epimetaphyseal dysplasia and mental retardation. The patients have a shortened trunk, striking barrel-shaped thorax, rhizomelic limb shortening, and distal deformities. A clinical entity similar to DMC ... Congenital malformation DYM [HSA:54808] [KO:K23951]
H00771 Inherited erythromelalgia
Primary erythromelalgia 		... described in families and in sporadic cases. Pharmacotherapy has been largely ineffective, and partial relief of symptoms comes from cooling the affected extremities. Dominantly inherited gain-of-function ... Skin disease SCN9A [HSA:6335] [KO:K04841]
H00773 Autosomal dominant intellectual developmental disorder
Autosomal dominant mental retardation 		Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. Most ... Mental and behavioural disorder (MRD1) MBD5 [HSA:55777] [KO:K23219]
(MRD2) DOCK8 [HSA:81704] [KO:K21852]
(MRD3) CDH15 [HSA:1013] [KO:K06809]
(MRD4) KIRREL3 [HSA:84623] [KO:K25874]
(MRD5) SYNGAP1 [HSA:8831] [KO:K17631]
(MRD6) GRIN2B [HSA:2904] [KO:K05210]
(MRD7) DYRK1A [HSA:1859] [KO:K08825]
(MRD8) GRIN1 [HSA:2902] [KO:K05208]
(MRD9) KIF1A [HSA:547] [KO:K10392]
(MRD10) CACNG2 [HSA:10369] [KO:K04867]
(MRD11) EPB41L1 [HSA:2036] [KO:K23961]
(MRD12) ARID1B [HSA:57492] [KO:K11653]
(MRD13) DYNC1H1 [HSA:1778] [KO:K10413]
(MRD14) ARID1A [HSA:8289] [KO:K11653]
(MRD15) SMARCB1 [HSA:6598] [KO:K11648]
(MRD16) SMARCA4 [HSA:6597] [KO:K11647]
(MRD17) PACS1 [HSA:55690] [KO:K23290]
(MRD18) GATAD2B [HSA:57459] [KO:K23194]
(MRD19) CTNNB1 [HSA:1499] [KO:K02105]
(MRD20) MEF2C [HSA:4208] [KO:K04454]
(MRD21) CTCF [HSA:10664] [KO:K23195]
(MRD22) ZBTB18 [HSA:10472] [KO:K23196]
(MRD23) SETD5 [HSA:55209] [KO:K23216]
(MRD24) DEAF1 [HSA:10522] [KO:K23041]
(MRD25) AHDC1 [HSA:27245] [KO:K22592]
(MRD26) AUTS2 [HSA:26053] [KO:K23214]
(MRD27) SOX11 [HSA:6664] [KO:K09268]
(MRD29) SETBP1 [HSA:26040] [KO:K23217]
(MRD30) ZMYND11 [HSA:10771] [KO:K23218]
(MRD31) PURA [HSA:5813] [KO:K21772]
(MRD32) KAT6A [HSA:7994] [KO:K11305]
(MRD33) DPP6 [HSA:1804] [KO:K23013]
(MRD34) COL4A3BP [HSA:10087] [KO:K08283]
(MRD35) PPP2R5D [HSA:5528] [KO:K11584]
(MRD36) PPP2R1A [HSA:5518] [KO:K03456]
(MRD38) EEF1A2 [HSA:1917] [KO:K03231]
(MRD39) MYT1L [HSA:23040] [KO:K23193]
(MRD40) CHAMP1 [HSA:283489] [KO:K22593]
(MRD41) TBL1XR1 [HSA:79718] [KO:K04508]
(MRD42) GNB1 [HSA:2782] [KO:K04536]
(MRD43) HIVEP2 [HSA:3097] [KO:K09239]
(MRD44/63) TRIO [HSA:7204] [KO:K08810]
(MRD45) CIC [HSA:23152] [KO:K20225]
(MRD46) KCNQ5 [HSA:56479] [KO:K04930]
(MRD47) STAG1 [HSA:10274] [KO:K06671]
(MRD48) RAC1 [HSA:5879] [KO:K04392]
(MRD49) TRIP12 [HSA:9320] [KO:K10590]
(MRD50) NAA15 [HSA:80155] [KO:K20792]
(MRD51) KMT5B [HSA:51111] [KO:K11429]
(MRD52) ASH1L [HSA:55870] [KO:K06101]
(MRD53) CAMK2A [HSA:815] [KO:K04515]
(MRD54) CAMK2B [HSA:816] [KO:K04515]
(MRD55) NUS1 [HSA:116150] [KO:K19177]
(MRD56) CLTC [HSA:1213] [KO:K04646]
(MRD57) TLK2 [HSA:11011] [KO:K08864]
(MRD58) SET [HSA:6418] [KO:K11290]
(MRD59) CAMK2G [HSA:818] [KO:K04515]
(MRD60) AP2M1 [HSA:1173] [KO:K11826]
(MRD61) MED13 [HSA:9969] [KO:K15164]
(MRD62) DLG4 [HSA:1742] [KO:K11828]
(MRD64) ZNF292 [HSA:23036] [KO:K26728]
(MRD65) KDM4B [HSA:23030] [KO:K06709]
(MRD66) ATP2B1 [HSA:490] [KO:K05850]
(MRD67) GRIA1 [HSA:2890] [KO:K05197]
(MRD68) KMT2B [HSA:9757] [KO:K14959]
(MRD69) LMAN2L [HSA:81562] [KO:K10083]
(MRD70) SETD2 [HSA:29072] [KO:K11423]
(MRD71) RFX7 [HSA:64864] [KO:K09175]
(MRD72) SRRM2 [HSA:23524] [KO:K13172]
(MRD73) TAF4 [HSA:6874] [KO:K03129]
(MRD74) HNRNPC [HSA:3183] [KO:K12884]
H00774 Congenital insensitivity to pain ... olfaction. A loss-of-function of the SCN9A, the gene encoding Nav1.7, can produce CIP. Patients with Nav1.7-related CIP present with a history of not ever experiencing any pain even after burns, bone fractures ... Nervous system disease (CIP) SCN9A [HSA:6335] [KO:K04841]
(MARSIS) ZFHX2 [HSA:85446] [KO:K09379]
H00775 Hemiplegic migraine ... by motor aura and headache. The distinction is based on whether at least one first or second degree relative is also affected, otherwise the diagnostic criteria are similar. The majority of FHM families ... Nervous system disease (FHM1, SHM1) CACNA1A [HSA:773] [KO:K04344]
(FHM2, SHM2) ATP1A2 [HSA:477] [KO:K01539]
(FHM3) SCN1A [HSA:6323] [KO:K04833]
H00809 Familial epilepsy temporal lobe (ETL) Autosomal dominant lateral temporal epilepsy (ADLTE) or autosomal dominant partial epilepsy with auditory features (ADPEAF) is an inherited epilepsy syndrome characterized by onset in adolescence or early ... Nervous system disease (ETL1) LGI1 [HSA:9211] [KO:K25428]
(ETL5) CPA6 [HSA:57094] [KO:K08782]
(ETL7) RELN [HSA:5649] [KO:K06249]
(ETL8) GAL [HSA:51083] [KO:K05244]
H00812 Trichomoniasis ... flagellate protozoan 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 ... Parasitic infectious disease
H00821 Age-related macular degeneration Macular degeneration is the physical breakdown of the central portion of the retina called the macula. Age-related macular degeneration (AMD/ARMD) is the leading cause of blindness. AMD is a complex disease caused ... Nervous system disease (ARMD1) HMCN1 [HSA:83872] [KO:K17341]
(ARMD1) CFHR1 [HSA:3078] [KO:K23815]
(ARMD1) CFHR3 [HSA:10878] [KO:K23815]
(ARMD2) ABCA4 [HSA:24] [KO:K05644]
(ARMD3) FBLN5 [HSA:10516] [KO:K17340]
(ARMD4) CFH [HSA:3075] [KO:K04004]
(ARMD5) ERCC6 [HSA:2074] [KO:K10841]
(ARMD6) RAX2 [HSA:84839] [KO:K09333]
(ARMD7) HTRA1 [HSA:5654] [KO:K08784]
(ARMD8) ARMS2 [HSA:387715] [KO:K25179]
(ARMD9) C3 [HSA:718] [KO:K03990]
(ARMD10) TLR4 [HSA:7099] [KO:K10160]
(ARMD11) CST3 [HSA:1471] [KO:K13899]
(ARMD12) CX3CR1 [HSA:1524] [KO:K04192]
(ARMD13) CFI [HSA:3426] [KO:K01333]
(ARMD14) C2 [HSA:717] [KO:K01332]
(ARMD14) CFB [HSA:629] [KO:K01335]
(ARMD15) C9 [HSA:735] [KO:K04000]
H00829 Multiple familial trichoepithelioma ... nodules and papules on the face. The lesions are derived from immature hair follicles. It is inherited in autosomal dominant fashion and is related to Brooke-Spiegler syndrome and Familial cylindromatosis. Neoplasm CYLD [HSA:1540] [KO:K08601]
H00867 Radioulnar synostosis with amegakaryocytic thrombocytopenia ... proximal radio-ulnar synostosis and congenital amegakaryocytic thrombocytopenia. Bruising and bleeding problems are observed since birth in affected individuals. The disease is related with HOXA11 mutation. Congenital malformation (RUSAT1) HOXA11 [HSA:3207] [KO:K21951]
(RUSAT2) MECOM [HSA:2122] [KO:K04462]
H00869 Leukoencephalopathy with vanishing white matter
Vanishing white matter disease 		... forms associated with ovarian failure. The principal findings are cerebellar ataxia and spasticity with relative preservation of mental abilities. Nearly all patients have mutations in any of the 5 genes encoding ... Nervous system disease (VWM1) EIF2B1 [HSA:1967] [KO:K03239]
(VWM2) EIF2B2 [HSA:8892] [KO:K03754]
(VWM3) EIF2B3 [HSA:8891] [KO:K03241]
(VWM4) EIF2B4 [HSA:8890] [KO:K03680]
(VWM5) EIF2B5 [HSA:8893] [KO:K03240]
H00876 Mismatch repair deficiency ... (MMR) deficiency is a condition associated with DNA mismatch repair mutations. MMR deficiency is correlated with hereditary non-polyposis colorectal cancer (HNPCC) and some forms of sporadic tumors. HNPCC ... Cancer (MMRCS1/HNPCC2) MLH1 [HSA:4292] [KO:K08734]
(MMRCS2/HNPCC1) MSH2 [HSA:4436] [KO:K08735]
(MMRCS3/HNPCC5) MSH6 [HSA:2956] [KO:K08737]
(MMRCS4/HNPCC4) PMS2 [HSA:5395] [KO:K10858]
(HNPCC7) MLH3 [HSA:27030] [KO:K08739]
H00894 FG syndrome
Opitz-Kaveggia syndrome 		... heterogeneity. The cardinal features of the syndrome are congenital hypotonia, delayed development of speech, relative macrocephaly (as compared to height and weight), anal anomalies or severe constipation, and ... Congenital malformation (FGS1) MED12 [HSA:9968] [KO:K15162]
(FGS2) FLNA [HSA:2316] [KO:K04437]
(FGS4) CASK [HSA:8573] [KO:K06103]
H00903 Congenital clubfoot
Congenital talipes equinovarus 		... the foot in a hand-like orientation. The calcaneus, navicular and cuboid bones are medially rotated in relation to talus. PITX1 haploinsufficiency accounts for the disease by causing developmental field defect ... Congenital malformation PITX1 [HSA:5307] [KO:K09356]
H00906 Macrocephaly, alopecia, cutis laxa, and scoliosis
MACS syndrome 		Macrocephaly, alopecia, cutis laxa, and scoliosis is an autosomal-recessive disorder related to the cutis laxa group of inherited disorders associated with macrocephaly, sparse hair, redundant skin, hyperlaxity ... Congenital malformation RIN2 [HSA:54453] [KO:K23687]
H00910 Hirschsprung disease Hirschsprung disease (HSCR) is a relatively common cause of intestinal obstruction in the newborn. It is characterized by absence of ganglion cells in the distal bowel and extending proximally for varying ... Congenital malformation (HSCR1) RET [HSA:5979] [KO:K05126]
(HSCR2) EDNRB [HSA:1910] [KO:K04198]
(HSCR3) GDNF [HSA:2668] [KO:K05452]
(HSCR4) EDN3 [HSA:1908] [KO:K05227]
(HCAD) ECE1 [HSA:1889] [KO:K01415]
H00929 Congenital vertical talus ... associated with rigid dorsal dislocation of the navicular over the neck of the talus, causing a flatfoot deformity known as 'rocker-bottom foot'. It occurs in syndromic deformity but is rarely in isolation. Congenital malformation HOXD10 [HSA:3236] [KO:K09295]
H00933 Hereditary pancreatitis
Hereditary chronic pancreatitis 		Hereditary pancreatitis is a very rare form of chronic relapsing pancreatitis. Its inheritance mode is autosomal dominant with an incomplete penetrance (80%). Patients had recurrent pancreatitis with impairment ... 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]
H00938 Factor XI deficiency
Plasma thromboplastin antecedent deficiency
Rosenthal syndrome 		Factor XI (FXI) deficiency is an injury-related bleeding disorder common in Ashkenazi Jews and rare worldwide. FXI deficiency is characterized by infrequent spontaneous bleeding, but increased risk of ... Hematologic disease F11 [HSA:2160] [KO:K01323]
H00954 Macular corneal dystrophy
Corneal dystrophy Groenouw type II
Fehr corneal dystrophy 		... experience progressive decreased vision and irritation as the diseases worsens, and will have vision severely affected by the third to fourth decade of life. It has been shown that a specific sulfation step ... Nervous system disease CHST6 [HSA:4166] [KO:K09671]
H00960 Fuchs corneal dystrophy
Fuchs endothelial corneal dystrophy 		... in the fourth and fifth decades of life. Corneal transplantation is currently the only modality used to restore vision. FECD is a genetically complex disorder, but the familial risk is relatively high. Nervous system disease (FECD1) COL8A2 [HSA:1296] [KO:K23455]
(FECD3) TCF4 [HSA:6925] [KO:K15603]
(FECD4) SLC4A11 [HSA:83959] [KO:K13862]
(FECD6) ZEB1 [HSA:6935] [KO:K09299]
(FECD8) AGBL1 [HSA:123624] [KO:K23436]
H00967 Adiponectin deficiency ... adipocyte-derived protein with insulin-sensitizing, anti-inflammatory and anti-atherogenic properties. Adiponectin deficiency (ADPOD) related to several obesity related malignancies including colorectal cancer. Inherited metabolic disorder ADIPOQ [HSA:9370] [KO:K07296]
H00978 Thrombocytopenia (THC) ... in the potential for increased bleeding and decreased ability for clotting. Inherited syndromes are relatively rare causes of thrombocytopenia, but some genes underlying these disorders have been elucidated ... Hematologic disease (THC1) WAS [HSA:7454] [KO:K05747]
(THC2) ANKRD26 [HSA:22852] [KO:K25138]
(THC3) FYB1 [HSA:2533] [KO:K17698]
(THC4) CYCS [HSA:54205] [KO:K08738]
(THC5) ETV6 [HSA:2120] [KO:K03211]
(THC6) SRC [HSA:6714] [KO:K05704]
(THC7) IKZF5 [HSA:64376] [KO:K09220]
(THC8) ACTB [HSA:60] [KO:K05692]
(THC9) THPO [HSA:7066] [KO:K06854]
(THC10) PTPRJ [HSA:5795] [KO:K05698]
(THC11) RAP1B [HSA:5908] [KO:K07836]
(THC12) GNE [HSA:10020] [KO:K12409]
(THC13) GALE [HSA:2582] [KO:K01784]
(XLTT/XLTDA) GATA1 [HSA:2623] [KO:K09182]
(THAMY) MPIG6B [HSA:80739] [KO:K25640]
(FPDMM) RUNX1 [HSA:861] [KO:K08367]
H00988 Enterokinase deficiency
Enteropeptidase deficiency 		... to thrive. Enterokinase is a serine protease of the intestinal brush border in the proximal small intestine. It activates the pancreatic proenzyme trypsinogen, which releases active digestive enzymes. Inherited metabolic disorder TMPRSS15 [HSA:5651] [KO:K01316]
H01006 Hereditary angioedema ... approximately 15% of patients with HAE, is due to expression of a dysfunctional C1INH protein. HAE type III has been observed exclusively in women and appears to be correlated with high estrogen levels. Cardiovascular disease (HAE1/2) SERPING1 [HSA:710] [KO:K04001]
(HAE3) F12 [HSA:2161] [KO:K01328]
(HAE4) PLG [HSA:5340] [KO:K01315]
(HAE5) ANGPT1 [HSA:284] [KO:K05465]
(HAE6) KNG1 [HSA:3827] [KO:K03898]
(HAE7) MYOF [HSA:26509] [KO:K22125]
(HAE8) HS3ST6 [HSA:64711] [KO:K09679]
H01019 Catecholaminergic polymorphic ventricular tachycardia ... lethal form of inherited primary electrical myocardial disease characterized by exercise- and stress-related adrenergic ventricular tachycardia without structural cardiac abnormalities. It manifests as ... Cardiovascular disease (CPVT1) RYR2 [HSA:6262] [KO:K04962]
(CPVT2) CASQ2 [HSA:845] [KO:K23445]
(CPVT3) TECRL [HSA:253017] [KO:K24219]
(CPVT4) CALM1 [HSA:801] [KO:K02183]
(CPVT5) TRDN [HSA:10345] [KO:K23449]
(CPVT6) CALM3 [HSA:808] [KO:K02183]
H01020 Optic atrophy ... abnormalities. All nonsyndromic OPAs characterized to date result from defects in genes encoding mitochondria-related proteins. The most frequent forms of nonsyndromic OPA are autosomal dominant OPA1-linked OPA ... Nervous system disease (OPA1) OPA1 [HSA:4976] [KO:K17079]
(OPA3) OPA3 [HSA:80207] [KO:K23166]
(OPA5) DNM1L [HSA:10059] [KO:K17065]
(OPA7) TMEM126A [HSA:84233] [KO:K18157]
(OPA9) ACO2 [HSA:50] [KO:K01681]
(OPA10) RTN4IP1 [HSA:84816] [KO:K23164]
(OPA11) YME1L1 [HSA:10730] [KO:K08955]
(OPA12) AFG3L2 [HSA:10939] [KO:K08956]
(OPA13) SSBP1 [HSA:6742] [KO:K03111]
(OPA14) MIEF1 [HSA:54471] [KO:K23507]
(OPA15) MCAT [HSA:27349] [KO:K00645]
(OPA16) MECR [HSA:51102] [KO:K07512]
H01031 Orthostatic intolerance
Postural tachycardia syndrome 		... palpitations, fatigue, altered mentation, and syncope primarily occurring with upright posture and being relieved by lying down. Patients often have high plasma norepinephrine (NE) concentrations in relation ... Cardiovascular disease SLC6A2 [HSA:6530] [KO:K05035]
H01032 N-acetylglutamate synthase deficiency ... enzyme carbamoylphosphate synthetase 1 (CPS1). In defects of NAGS, the urea cycle function can be severely affected resulting in fatal hyperammonemia in neonatal patients or at any later stage in life. Clinical ... Inherited metabolic disorder NAGS [HSA:162417] [KO:K11067]
H01042 Buruli ulcer ... western Africa. BU is a serious necrotizing cutaneous infection caused by Mycobacterium ulcerans that is related to the aquatic environment. BU is characterized by indolent, typically painless necrotizing skin ... Bacterial infectious disease
H01050 Tsukamurella infection Tsukamurella species are aerobic gram-positive rods from the order Actinomycetales. They have been uncommonly reported as a cause of different human infections, including peritonitis, conjunctivitis, meningitis ... Bacterial infectious disease
H01054 Pediculosis ... occurs mainly through contact with contaminated clothing or bedding. Body louse is major vectors of diseases such as epidemic typhus [DS:H00322], trench fever [DS:H00327], and relapsing fever [DS:H00427]. Parasitic infectious disease
H01070 Vibrio furnissii infection ... associated with human acute gastroenteritis. The pathology of V. furnissii in gastroenteritis is potentially related to hemolysin production. A protein with multifaceted functions in solute binding, in in vitro ... Bacterial infectious disease
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