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Entry	Name	Description	Category	Gene
H01349	Methacrylic aciduria 3-Hydroxy-isobutyryl-CoA hydrolase deficiency	... mitochondrial enzyme of valine catabolism. Patients demonstrated delayed development of motor skills, hypotonia, initial poor feeding, and a deterioration in neurological function during the first stages of life.	Inherited metabolic disorder, Mitochondrial disease	HIBCH [HSA:26275] [KO:K05605]
H01359	Anaphylaxis	Anaphylaxis is a severe, life-threatening, systemic allergic reaction that is almost always unanticipated and may lead to death by airway obstruction or vascular collapse. Anaphylaxis can be triggered ...	Immune system disease
H01367	Infantile liver failure	Infantile liver failure is a life-threatening condition characterized by poor feeding, vomiting, jaundice, distended abdomen, hemorrhagic diathesis, and hypoactivity. Clinically, patients manifest with ...	Inherited metabolic disorder, Mitochondrial disease	(ILFS1) LARS [HSA:51520] [KO:K01869] (ILFS2) NBAS [HSA:51594] [KO:K20473] (ILFS3) RINT1 [HSA:60561] [KO:K20474] (LFIT) TRMU [HSA:55687] [KO:K21027]
H01377	Mitchell-Riley syndrome	... gut as well as diabetes. Patients with this syndrome are typically diagnosed within the first week of life and generally die within their first year of life. Mutations in rfx6 have been associated with Mitchell-Riley ...	Inherited metabolic disorder	RFX6 [HSA:222546] [KO:K19521]
H01401	Methicillin-resistant Staphylococcus epidermidis (MRSE) infection	... as pathogen of human and other mammals causes various diseases ranging from minor skin infections to life-threatening bacteremia. The two major opportunistic pathogens in the Staphylococcus genus, Staphylococcus ...	Bacterial infectious disease
H01416	Severe fever with thrombocytopenia syndrome	Severe fever with thrombocytopenia syndrome (SFTS) is a life-threatening infectious disease caused by SFTS virus (SFTSV), a phlebovirus in the order Bunyavirales of -ssRNA viruses, and transmitted by Ixodoidea ...	Viral infectious disease
H01428	Xeroderma pigmentosum	... G group show the abnormality in nucleotide excision repair (NER). The symptoms of XP begin in early life. Severe sunburn and blistering occurs in a half of patients, and all show early extensive freckling ...	Congenital malformation	(XPA) XPA [HSA:7507] [KO:K10847] (XPB) ERCC3 [HSA:2071] [KO:K10843] (XPC) XPC [HSA:7508] [KO:K10838] (XPD) ERCC2 [HSA:2068] [KO:K10844] (XPE) DDB2 [HSA:1643] [KO:K10140] (XPF) ERCC4 [HSA:2072] [KO:K10848] (XPG) ERCC5 [HSA:2073] [KO:K10846] (XPV) POLH [HSA:5429] [KO:K03509]
H01435	Congenital asplenia	... developmental disorder that is characterized by the absence of a spleen at birth. The patients are prone to life-threatening bacterial infections. Isolated congenital asplenia has no other developmental defects ...	Congenital malformation	RPSA [HSA:3921] [KO:K02998] GDF1 [HSA:2657] [KO:K05495]
H01455	Necrotizing fasciitis	Necrotizing fasciitis (NF) is a severe life-threatening soft tissue infection characterized by rapidly spreading necrosis of the fascia and the subcutaneous tissue. Although more common in adults, NF also ...	Bacterial infectious disease
H01457	Diabetic retinopathy	... the world. The development of DR is divided into two stages: in the early stages, also called as nonproliferative stage, it is asymptomatic because the signs are not visible to the eye. however, some defects ...	Endocrine and metabolic disease; Nervous system disease	VEGFA [HSA:7422] [KO:K05448] EPO [HSA:2056] [KO:K05437] ACE [HSA:1636] [KO:K01283] PON1 [HSA:5444] [KO:K01045]
H01463	Mycosis fungoides	Mycosis fungoides (MF) is the most common type of primary cutaneous T-cell lymphomas (CTCL), which are a heterogeneous group of malignancies derived from skin-homing T cells. MF presents in the skin with ...	Cancer	p16/INK4a, ARF (mutation,deletion) [HSA:1029] [KO:K06621] p15/INK4b (mutation, deletion) [HSA:1030] [KO:K04685] PTEN (mutation) [HSA:5728] [KO:K01110] p53 (mutation) [HSA:7157] [KO:K04451] JUNB (mutation) [HSA:3726] [KO:K09028] Fas (loss of expression) [HSA:355] [KO:K04390] Nav3 (deletion) [HSA:89795] [KO:K23919] c-MYC (amplification) [HSA:4609] [KO:K04377]
H01467	Primary biliary cholangitis Primary biliary cirrhosis	... potential cirrhosis. Patients are usually middle-aged women and presents in the fifth or sixth decade of life. The most common symptoms are pruritus. It is not clear what causes PBC. It may be relate to problems ...	Digestive system disease
H01468	Eosinophilic granulomatosis with polyangiitis Churg-Strauss syndrome	... Vasculitis commonly affects the skin, nerves, gastrointestinal tract, and heart. It can be serious and life-threatening. EGPA pathogenesis is not well known. The disease is probably the result of a complex ...	Immune system disease
H01471	Lymphangioma	... into surrounding tissues and/or infiltrate vital structures similar to malignancies, sometimes causing life-threatening complications. The etiology of lymphangioma is not certain. The presence of lymphatic ...	Neoplasm	VEGFR-3 (overexpression) [HSA:2324] [KO:K05097]
H01479	Castleman disease	Castleman disease is a rare lymphoproliferative disorder with two primary subtypes that vary in presentation and course. Unicentric Castleman disease is localized and carries an excellent prognosis. Multicentric ...	Immune system disease	IL6 [HSA:3569] [KO:K05405]
H01482	Infantile hemangioma	Infantile hemangiomas (IH) are neoplastic proliferations of vascular endothelial cells (ECs), characterized by a period of growth after birth, and eventual spontaneous involution. Forty percent of the ...	Neoplasm	TEM8 [HSA:84168] [KO:K20909] VEGFR2 [HSA:3791] [KO:K05098]
H01492	Systemic sclerosis Systemic scleroderma	... sclerosis. A highly variable clinical course exists that spans from mild and subtle findings to aggressive life-threatening multisystem disease. Anti-nuclear antibodies (ANA) are present in more than 90% of patients ...	Immune system disease; Skin disease
H01509	Tonsillar cancer	... HPV-positive TC showed a strong association with p16 overexpression, and an inverse association with EGFR amplification. HPV-16 integration status was strongly associated with c-myc amplification and HIF-1a overexpression ...	Cancer	CDKN2A (overexpression) [HSA:1029] [KO:K06621] MYC (amplification) [HSA:4609] [KO:K04377] HIF1A (overexpression) [HSA:3091] [KO:K08268]
H01511	Mast-cell leukemia	... kinase (PI3K)/AKT, are inappropriately activated, and this is believed to contribute to the abnormal proliferation and survival of these neoplastic cells. The reason of poor prognosis of MCL patients is mostly ...	Cancer	KIT (mutation) [HSA:3815] [KO:K05091]
H01512	Langerhans cell histiocytosis	Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder characterized by a clonal proliferation of specialized cells with characteristics resembling antigen-presenting cells that reside in the ...	Cancer	BRAF (mutation) [HSA:673] [KO:K04365] MAP2K1 (mutation) [HSA:5604] [KO:K04368]
H01513	Retinoblastoma	The retinoblastoma is an eye tumor of childhood that arises in the retina and represents the most common intraocular malignancy of infancy and childhood. Tumor formation usually begins with mutation in ...	Cancer	RB1 (mutation) [HSA:5925] [KO:K06618] MDM4 (amplification) [HSA:4194] [KO:K10127] MDM2 (amplification) [HSA:4193] [KO:K06643] KIF14 (amplification) [HSA:9928] [KO:K17915] CDH11 (loss) [HSA:1009] [KO:K06803] p16/INK (loss) [HSA:1029] [KO:K06621]
H01521	Pneumocystis pneumonia Pneumocystis carinii pneumonia	... unicellular, eukaryotic organisms that reside in the lungs of many mammals. The 5 main species have been identified. PCP is a potentially life-threatening disease that occurs in immunocompromised patients.	Fungal infectious disease
H01528	Neuroleptic malignant syndrome	Neuroleptic malignant syndrome (NMS) is a rare but potentially life-threatening side effect to antipsychotic drugs characterized by fever, altered mental status, muscle rigidity, and autonomic dysfunction ...	Nervous system disease
H01532	Gout	... The development of gout is not only associated with sex, age, race and genetics, but also diet and lifestyle are contributed to increasing prevalence of the disease. Epidemiology studies reported that ...	Musculoskeletal disease	(GOUT1) ABCG2 [HSA:9429] [KO:K05681] (GOUT2) SLC2A9 [HSA:56606] [KO:K08146] (GOUT4) SLC17A3 [HSA:10786] [KO:K12300] (GOUT5/DLACD) LDHD [HSA:197257] [KO:K00102]
H01534	Western equine encephalitis	... system caused by Western equine encephalitis virus (WEEV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Culex mosquitoes. WEEV was first isolated in 1930 in California, USA.	Viral infectious disease
H01537	La Crosse encephalitis California encephalitis	... phlebovirus in the order Bunyavirales of -ssRNA viruses, and transmitted by Aedes mosquitoes. LACV belongs to the serogroup of California encephalitis virus, which was first isolated in 1943 in California.	Viral infectious disease
H01539	Nipah virus infection	... of encephalitis with high mortality in people and also respiratory disease in pigs which served as amplifying hosts. The known natural reservoir hosts of NiV are several species of pteropid fruit bats.	Viral infectious disease
H01559	Oropharyngeal cancer	Oropharyngeal cancer is a generic term that includes tumors arising within the anatomic confines of the posterior pharyngeal wall, soft palate, tonsillar region and posterior one-third (base) of the tongue ...	Cancer	TP53 (mutation) [HSA:7157] [KO:K04451] EGFR (amplification, overexpression) [HSA:1956] [KO:K04361]
H01562	Patau syndrome Trisomy 13	... and 10 days and it is reported that between 86% and 91% of live-born patients with Patau syndrome do not survive beyond 1 year of life. Survival beyond the first year has been associated with mosaicism.	Chromosomal abnormality
H01565	Wernicke encephalopathy Wernicke-Korsakoff syndrome	... patients present with the triad of ophthalmoplegia, ataxia, and confusion. It can be associated with life-threatening complication like central pontine myelinolysis. When Wernicke encephalopathy is suspected ...	Endocrine and metabolic disease	SLC19A2 [HSA:10560] [KO:K14610]
H01570	Autosomal dominant striatal degeneration	... clinical features are mild, slowly progressive dysarthria and hypokinesia without any apparent reduction in life expectancy. Brain MRI shows distinctive lesions of the putamen and caudate nucleus appearing earlier ...	Nervous system disease	(ADSD1) PDE8B [HSA:8622] [KO:K18437] (ADSD2) PDE10A [HSA:10846] [KO:K18438]
H01585	Autoimmune hemolytic anemia	... accompanying and complicating an underlying disease. AIHA may develop gradually, or have a fulminant onset with life-threatening anemia. The diagnosis is usually simple, based on the presence of hemolytic anemia and ...	Hematologic disease
H01590	Chronic eosinophilic leukemia	Chronic eosinophilic leukemia (CEL) is a chronic myeloproliferative disease of unknown etiology in which a clonal proliferation of eosinophilic precursors results in a persistently elevated number of eosinophils ...	Cancer	FIP1L1-PDGFRA (deletion) [HSA:5156] [KO:K04363] BCR-PDGFRA (translocation) [HSA:5156] [KO:K04363]
H01598	Addison disease Primary adrenal insufficiency Hypoadrenocorticism	... X-linked adrenal hypoplasia congenita (X-linked Addison disease). The clinical manifestations before a life-threatening adrenal crisis (shock, hypotension, and volume depletion) are subtle and can include ...	Endocrine and metabolic disease	NR0B1 [HSA:190] [KO:K08562]
H01599	Hypereosinophilic syndrome	... recently been identified. The best characterized of the clonal molecular defects implicated in myeloproliferative variant HES is the 800-kb interstitial deletion on chromosome 4q12 resulting in the fusion ...	Cancer	(HES) FIP1L1-PDGFRA [HSA:5156] [KO:K04363]
H01601	Anaplastic large-cell lymphoma	Anaplastic large cell lymphoma (ALCL) is a lymphoid neoplasm characterized by a proliferation of large lymphoid cells, referred to as hallmark cells, with strong expression of CD30. The World Health Organization ...	Cancer	NPM-ALK (translocation) [HSA:238] [KO:K05119] DUSP22-IRF4 (translocation) [HSA:56940] [KO:K14165]
H01602	Gastroesophageal reflux disease	... pH monitoring. GERD is a chronic disease that typically requires long term management in the form of lifestyle modification, medical therapy and, for a subset of patients, surgical therapy. The mainstay ...	Digestive system disease
H01605	Myelofibrosis	Myelofibrosis (MF), one of the three classic Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs), is characterized by symptoms mainly derived from anemia and splenomegaly and constitutional ...	Cancer	MPL [HSA:4352] [KO:K05082] JAK2 [HSA:3717] [KO:K04447] CALR [HSA:811] [KO:K08057] SH2B3 [HSA:10019] [KO:K12459]
H01612	Essential thrombocythemia Essential thrombocytosis Thrombocythemia	Essential thrombocythemia (ET) is one of the myeloproliferative neoplasms (MPNs), a group of clonal stem cell disorders with similarities at the phenotypic and molecular level. ET is characterized by an ...	Hematologic disease	(THCYT1) THPO [HSA:7066] [KO:K06854] (THCYT1) SH2B3 [HSA:10019] [KO:K12459] (THCYT1) CALR [HSA:811] [KO:K08057] (THCYT2) MPL [HSA:4352] [KO:K05082] (THCYT3) JAK2 [HSA:3717] [KO:K04447]
H01613	Follicular lymphoma	Follicular lymphoma (FL) is generally an indolent B cell lymphoproliferative disorder of transformed follicular center B cells. FL is characterized by diffuse lymphoadenopathy, bone marrow involvement ...	Cancer	IgH-BCL2 (translocation) [HSA:596] [KO:K02161] EZH2 (mutation) [HSA:2146] [KO:K11430] MLL2 (mutation) [HSA:9757 8085] [KO:K14959 K09187] CREBBP (mutation) [HSA:1387] [KO:K04498] MEF2B (mutation) [HSA:4207] [KO:K09261] EP300 (mutation) [HSA:2033] [KO:K04498]

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