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Entry	Name	Description	Category	Pathway	Gene
H00061	Prion disease Creutzfeldt-Jacob disease (CJD) Gerstmann-Straussler disease (GSD) Gerstmann-Straussler-Scheinker disease (GSSD) Fatal familial insomnia (FFI)	... familial insomnia (FFI)) or unknown factors (sporadic CJD (sCJD)), and is thought to occur after PrPC has reached the plasma membrane or is re-internalized for degradation. The PrPSc form shows greater protease ...	Neurodegenerative disease	hsa05020 Prion disease	PRNP (mutation) [HSA:5621] [KO:K05634]
H00081	Hashimoto thyroiditis	... combination of a genetic predisposition in conjunction with an environmental trigger. Two main approaches have been employed to locate susceptibility loci for AITD, namely case control candidate gene studies ...	Immune system disease		CTLA4 [HSA:1493] [KO:K06538]
H00082	Graves disease	... combination of a genetic predisposition in conjunction with an environmental trigger. Two main approaches have been employed to locate susceptibility loci for AITD, namely case control candidate gene studies ...	Immune system disease
H00327	Trench fever	... World War II, but recently it reemerged in urban homeless populations of developed countries. The most frequent presentation of trench fever includes repeated cycles of high fever, headache, and dizziness.	Bacterial infectious disease
H00350	Psittacosis Parrot fever	... bacterium that is usually transmitted to humans from birds. Symptoms typically include high fevers, headache, myalgias, and a nonproductive cough. Although pneumonia is the most common manifestation, all organ ...	Bacterial infectious disease
H00416	Omsk hemorrhagic fever	... acute viral disease that was found in Omsk, west Siberia in Russia. The disease presents with fever, headache, nausea, severe muscle pain, cough, and moderately severe hemorrhagic manifestations. Dermacentor ...	Viral infectious disease
H00486	Sclerosteosis	... secondary findings such as facial distortion, increased intracranial pressure often resulting in headaches, and entrapment of the cranial nerves. Other findings include syndactyly and tall stature. This ...	Congenital malformation		(SOST1) SOST [HSA:50964] [KO:K16834] (SOST2) LRP4 [HSA:4038] [KO:K20051]
H00610	Treacher Collins syndrome	Treacher Collins syndrome (TCS) is a rare congenital birth disorder characterized by severe craniofacial defects. Autosomal dominant TCS1 and TCS2 are caused by mutations in the TCOF1 and POLR1D genes ...	Ribosomopathy		(TCS1) TCOF1 [HSA:6949] [KO:K14562] (TCS2) POLR1D [HSA:9533] [KO:K03027] (TCS3) POLR1C [HSA:51082] [KO:K03020] (TCS4) POLR1B [HSA:84172] [KO:K03002]
H00629	Acheiropodia	Acheiropodia is an extremely rare, severe congenital malformation caused by LMBR1 deletion. Patients show malformed upper and lower extremities with amputation of distal limbs and aplasia of hands and ...	Congenital malformation		(ACHP) LMBR1 [HSA:64327] [KO:K25217]
H00679	Hypomyelinating leukodystrophy Pelizaeus-Merzbacher disease (PMD)	... dysarthria and progressive limb spasticity. The prototype of primary HMLs is the X-linked Pelizaeus-Merzbacher disease (PMD) caused by mutations in PLP1 encoding proteolipid protein lipophilin. Pelizaeus-Merzbacher-like ...	Inherited metabolic disorder		(HLD1/PMD) PLP1 [HSA:5354] [KO:K17271] (HLD2) GJC2 [HSA:57165] [KO:K07619] (HLD3) AIMP1 [HSA:9255] [KO:K15437] (HLD4) HSPD1 [HSA:3329] [KO:K04077] (HLD5) FAM126A [HSA:84668] [KO:K21844] (HLD6) TUBB4A [HSA:10382] [KO:K07375] (HLD7) POLR3A [HSA:11128] [KO:K03018] (HLD8) POLR3B [HSA:55703] [KO:K03021] (HLD9) RARS1 [HSA:5917] [KO:K01887] (HLD10) PYCR2 [HSA:29920] [KO:K00286] (HLD11) POLR1C [HSA:9533] [KO:K03027] (HLD12) VPS11 [HSA:55823] [KO:K20179] (HLD13) HIKESHI [HSA:51501] [KO:K23327] (HLD14) UFM1 [HSA:51569] [KO:K12162] (HLD15) EPRS1 [HSA:2058] [KO:K14163] (HLD16) TMEM106B [HSA:54664] [KO:K25048] (HLD17) AIMP2 [HSA:7965] [KO:K15438] (HLD18) DEGS1 [HSA:8560] [KO:K04712] (HLD19) TMEM63A [HSA:9725] [KO:K21989] (HLD20) CNP [HSA:1267] [KO:K01121] (HLD21) POLR3K [HSA:51728] [KO:K03019] (HLD22) CLDN11 [HSA:5010] [KO:K06087] (HLD23) RNF220 [HSA:55182] [KO:K25174] (HLD24) ATP11A [HSA:23250] [KO:K26934] (HLD25) TMEM163 [HSA:81615] [KO:K14694] (HLD26) SLC35B2 [HSA:347734] [KO:K15276] (HLD27) POLR1A [HSA:25885] [KO:K02999]
H00775	Hemiplegic migraine	... hemiplegic migraines (SHM and FHM) are rare paroxysmal disorders characterized by motor aura and headache. The distinction is based on whether at least one first or second degree relative is also affected ...	Nervous system disease		(FHM1, SHM1) CACNA1A [HSA:773] [KO:K04344] (FHM2, SHM2) ATP1A2 [HSA:477] [KO:K01539] (FHM3) SCN1A [HSA:6323] [KO:K04833]
H00859	Guttmacher syndrome	Guttmacher syndrome is a disorder of distal limb and genital tract that resembles hand-foot-genital syndrome (HFGS). In addition to the typical features of HFGS, namely the combination of hypoplastic thumbs ...	Congenital malformation		HOXA13 [HSA:3209] [KO:K09298]
H01053	Paroxysmal nocturnal hemoglobinuria	... PIG-A is required for the biosynthesis of a lipid moiety, glycosylphosphatidylinositol (GPI), that attaches dozens of different proteins to the cell surface. PIG-A mutations block GPI anchor biosynthesis ...	Hematologic disease		(PNH1) PIGA [HSA:5277] [KO:K03857] (PNH2) PIGT [HSA:51604] [KO:K05292]
H01194	X-linked chondrodysplasia punctata	... abnormality, characterized by punctate calcification of the cartilage of the epiphyses, larynx and trachea. Different forms of CDP exist, the most common of which is inherited as an autosomal recessive ...	Congenital malformation		(CDPX1) ARSL [HSA:415] [KO:K18222] (CDPX2) EBP [HSA:10682] [KO:K01824]
H01195	VACTERL/VATER association	... non-random co-occurrence of vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheo-esophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects ...	Congenital malformation		PTEN [HSA:5728] [KO:K01110] HOXD13 [HSA:3239] [KO:K09298] (VACTERLX) ZIC3 [HSA:7547] [KO:K18487] (VCTERL) WBP11 [HSA:51729] [KO:K12866]
H01390	Mitochondrial neurogastrointestinal encephalomyopathy MNGIE Syndrome	... characterized clinically by ptosis, progressive external ophthalmoparesis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy. MNGIE is caused by TYMP mutations. Rare cases ...	Inherited metabolic disorder, Mitochondrial disease		TYMP [HSA:1890] [KO:K00758] RRM2B [HSA:50484] [KO:K10808] POLG [HSA:5428] [KO:K02332] LIG3 [HSA:3980] [KO:K10776]
H01424	Group A streptococcal pharyngitis Group A streptococcal tonsillitis Group A streptococcal pharyngotonsillitis	... patients is often abrupt. In addition to throat pain, symptoms may include fever, chills, malaise, headache, and particularly in younger children abdominal pain, nausea, and vomiting. Cough, coryza, and conjunctivitis ...	Bacterial infectious disease
H01429	Aseptic meningitis	... malignancy, and systemic illness. Viral meningitis constitutes the most common cause of aseptic meningitis. Clinical manifestations include headache, fever, malaise, photophobia, and meningeal signs.	Viral infectious disease; Nervous system disease
H01442	Septic arthritis Pyogenic arthritis	Septic arthritis is defined as a purulent infection in a joint cavity. The infection commonly reaches the joint in children by hematogenous spread or by direct extension of pathogenic bacteria. Staphylococcus ...	Bacterial infectious disease
H01472	Multidrug-resistant tuberculosis	... and rifampin, the first-line antibiotics for treating tuberculosis. Drug-resistant tuberculosis has reached new levels of concern because of the recent identification of strains that are resistant not only ...	Bacterial infectious disease
H01479	Castleman disease	... by generalized lymphadenopathy and systemic symptoms, such as fever, fatigue, anorexia, anemia, and cachexia. Castleman disease is unique in that dysregulated secretion of interleukin-6 (IL-6) plays a central ...	Immune system disease		IL6 [HSA:3569] [KO:K05405]
H01504	Vogt-Koyanagi-Harada syndrome Vogt-Koyanagi-Harada disease Uveomeningoencephalitic syndrome	... characterized by panuveitis, often associated with neurologic and cutaneous manifestations, including headache, hearing loss, vitiligo, and poliosis. VKHS is more common in individuals of pigmented skin, such ...	Immune system disease; Nervous system disease		HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DRB4 [HSA:3126] [KO:K06752]
H01561	Chiari malformation Arnold-Chiari syndrome	... tonsillas through the foramen magnum. This leads to different symptoms and clinical features, such as headaches, syringomyelia, and hydrocephalus. CM II is characterized by displacement of the parts of the inferior ...	Congenital malformation
H01578	Subacute myelo-optico-neuropathy (SMON)	... ferric iron. A large number of SMON were observed throughout Japan, and the total number of cases reached nearly 10,000 by 1970. After the governmental ban on the use of clioquinol in September 1970, there ...	Neurodegenerative disease
H01588	Cluster headache	Cluster headache (CH) is the commonest of the trigeminal autonomic cephalalgias (TAC) characterized by attacks of severe, strictly unilateral pain, which is orbital, supraorbital, temporal, or in any combination ...	Nervous system disease
H01594	Myasthenia gravis	... it is generally characterized by the occurrence of relapses, sometimes subsequent to remissions and a worsening trend. For 85% of MG patients, the maximum severity is reached within less than 3 years.	Immune system disease; Nervous system disease
H01618	Pituitary gigantism	... stature, enlargement of the hands and feet, excessive perspiration, coarsening of facial features, and headaches. It has been reported that duplication of GPR101 probably causes gigantism and acromegaly. Therapeutic ...	Endocrine and metabolic disease		GPR101 (duplication) [HSA:83550] [KO:K08423]
H01675	Syringomyelia	... by the presence of abnormal fluid-filled cavities within the spinal cord. Early symptoms include headache, altered pain and temperature sensation, and paresthesia. If fluid continues to enlarge the cyst ...	Congenital malformation
H01694	Stevens-Johnson syndrome Toxic epidermal necrolysis Lyell syndrome	... conjunctivitis, erosion, ulcer and crusts may be observed in the eye, mouth, nose, pharynx, esophagus, trachea, gastrointestinal tract, urinary tract and genital mucosae. Life-threatening bleeding and infections ...	Immune system disease; Skin disease		HLA-A [HSA:3105] [KO:K06751] HLA-B [HSA:3106] [KO:K06751]
H01701	Pituitary TSH hypersecretion Syndrome of inappropriate secretion of TSH (SITSH)	... of hyperthyroidism. Most of the tumors are macroadenomas usually presenting with symptoms such as headache and/or visual field impairment while the symptoms of hyperthyroidism seem to be milder compared ...	Endocrine and metabolic disease
H01704	Sudden sensorineural hearing loss	... Different treatment regimens like antioxidants, corticosteroids, vasodilators, hyperbaric oxygen (HBO), or carbogen therapy have been described. Among these approaches, steroid treatment is the most common.	Nervous system disease
H01758	Relapsing polychondritis	... affecting proteoglycan-rich structures and cartilaginous tissues, including the ear, nose, larynx, trachea, bronchi, peripheral joints, eye, heart, and skin, with high risk of misdiagnosis. The clinical ...	Musculoskeletal disease
H01795	Blepharophimosis-mental retardation syndrome Ohdo syndrome	... blepharophimosis, ptosis, hypoplastic teeth, heart defect, and mental handicap, to which his name was attached. Subsequently, several cases have been reported as Ohdo/Ohdo-like syndrome, widening the spectrum ...	Congenital malformation		(SBBYS type) KAT6B [HSA:23522] [KO:K11306] (MKB type) MED12 [HSA:9968] [KO:K15162]
H01799	Vibratory urticaria Vibratory angioedema	... sufficient intensity will also result in generalized or facial erythema accompanied by a transient headache. The histamine release that is associated with urticarias has implicated aberrant degranulation ...	Immune system disease; Skin disease		ADGRE2 [HSA:30817] [KO:K08443]
H01809	Sturge-Weber syndrome	... but usually progressive course in early childhood characterised by seizures, stroke-like episodes, headaches, neurological and cognitive deterioration, hemiparesis, glaucoma and visual field defects. Although ...	Congenital malformation		GNAQ [HSA:2776] [KO:K04634]
H01839	Burn-McKeown syndrome	... and/or palate, and large and protruding ears. All patients have normal intellectual development; Treacher Collins syndrome [DS:H00610] is therefore a possible differential diagnosis. Mutations in TXNL4A ...	Congenital malformation		TXNL4A [HSA:10907] [KO:K12859]
H01871	Isolated hypoganglionosis	... enterocolitis. Histologically, it is characterized by very low or absent activity of acetylcholinesterase (AChE) in the mucosa, a significant reduction of nerve cells in the myenteric plexus and the submucous ...	Digestive system disease
H01892	Peripheral T cell lymphoma	... kinase (ALK)-positive anaplastic large cell lymphoma (ALCL) and ALK-negative ALCL [DS:H01601]. Novel approaches are gradually clarifying the molecular pathogenesis of PTCLs. ALK gene translocation and dual specificity ...	Cancer		NPM-ALK (translocation) [HSA:238] [KO:K05119] DUSP22-IRF4 (translocation) [HSA:56940] [KO:K14165] TET2 (mutation) [HSA:54790] [KO:K24309] DNMT3A (mutation) [HSA:1788] [KO:K17398] IDH1 (mutation) [HSA:3417] [KO:K00031] IDH2 (mutation) [HSA:3418] [KO:K00031]
H02079	Oto-spondylo-megaepiphyseal dysplasia OSMED Weissenbacher-Zweymuller syndrome	Otospondylomegaepiphyseal dysplasia (OSMED) is a very rare disorder due to mutations of type XI collagen. It could be either of autosomal dominant or recessive etiology. OSMED is characterized by typical ...	Congenital malformation		COL11A2 [HSA:1302] [KO:K19721]
H02259	Stormorken syndrome	... thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. The STIM1 mutation found in Stormorken syndrome patients is located in the coiled-coil ...	Hematologic disease		STIM1 [HSA:6786] [KO:K16059]

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