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Entry	Name	Description	Category	Gene
H01503	Zygomycosis	The class Zygomycetes is divided into two orders, Mucorales and Entomophthorales. These two orders produce different infections. Genera from the order Mucorales cause an angioinvasive infection called ...	Fungal infectious disease
H01509	Tonsillar cancer	... include the use of alcohol and/or tobacco, however a significant proportion of new cases develop in young patients without these risk factors. Recent investigation suggests that human papilloma virus (HPV) ...	Cancer	CDKN2A (overexpression) [HSA:1029] [KO:K06621] MYC (amplification) [HSA:4609] [KO:K04377] HIF1A (overexpression) [HSA:3091] [KO:K08268]
H01510	Malignant paraganglioma Pheochromocytoma	... metastases, tumor spread in sites where chromaffin tissue is normally absent such as lymph nodes, liver, lungs, and bones. Malignant PGLs are extremely rare. The pathogenesis and progression of PGLs are very ...	Cancer	SDHD [HSA:6392] [KO:K00237] SDHB [HSA:6390] [KO:K00235] SDHC [HSA:6391] [KO:K00236] NF1 [HSA:4763] [KO:K08052] RET [HSA:5979] [KO:K05126] VHL [HSA:7428] [KO:K03871] TMEM127 [HSA:55654] [KO:K25206] MAX [HSA:4149] [KO:K04453] KIF1B [HSA:23095] [KO:K10392] EPAS1 [HSA:2034] [KO:K09095] FH [HSA:2271] [KO:K01679]
H01518	Lobomycosis Lobo disease Lacaziosis	... primarily occurs in tropical climates of Latin America. It is a zoonotic disease in humans and some species of dolphins. Main etiological agent is Lacazia loboi, a uncultivable dimorphic onygenale fungi.	Fungal infectious disease
H01520	Chromomycosis Chromoblastomycosis	Chromomycosis, also known as Chromoblastomycosis, is a chronic fungal infection of the skin and the subcutaneous tissue caused by a transcutaneous traumatic inoculation of a specific group of dematiaceous ...	Fungal infectious disease
H01521	Pneumocystis pneumonia Pneumocystis carinii pneumonia	... Pneumocystis. Members of the genus Pneumocystis are unicellular, eukaryotic organisms that reside in the lungs of many mammals. The 5 main species have been identified. PCP is a potentially life-threatening ...	Fungal infectious disease
H01529	Avascular necrosis of femoral head Osteonecrosis of the femoral head	... occurs because of decreased blood flow or an interruption in the blood supply. ANFH occurs mainly in young individuals between 30 and 50 years old. The clinical manifestations of ANFH, including pain on exertion ...	Musculoskeletal disease	(ANFH1) COL2A1 [HSA:1280] [KO:K19719] (ANFH2) TRPV4 [HSA:59341] [KO:K04973] SERPINE1 [HSA:5054] [KO:K03982] VEGFA [HSA:7422] [KO:K05448] NOS3 [HSA:4846] [KO:K13242] ABCB1 [HSA:5243] [KO:K05658]
H01540	Chikungunya fever	Chikungunya fever is an infectious disease caused by Chikungunya virus (CHIKV), an alphavirus in the Togaviridae family of +ssRNA viruses, and transmitted by Aedes mosquitoes. CHIKV was first recognized ...	Viral infectious disease
H01552	Down syndrome Trisomy 21	... occurs at a much higher incidence in older mothers. Nonetheless, the vast majority of DS births are to younger mothers. Clinical and experimental studies have shown that age independent DNA hypo-methylation ...	Chromosomal abnormality
H01596	Lambert-Eaton myasthenic syndrome	... autonomic symptoms. The underlying cause of LEMS in slightly more than half of all patients is small cell lung carcinoma (SCLC) [DS:H00013]. The nerve terminal and carcinoma cells apparently share a common antigen ...	Immune system disease; Nervous system disease
H01619	Primary pulmonary hypertension	... diminished right-heart function due to increased right ventricular afterload. PPH occurs most commonly in young and middle-aged women; mean survival from onset of symptoms is 2-3 years. Mutations in the type II ...	Cardiovascular disease	(PPH1) BMPR2 [HSA:659] [KO:K04671] (PPH2) SMAD9 [HSA:4093] [KO:K16791] (PPH3) CAV1 [HSA:857] [KO:K06278] (PPH4) KCNK3 [HSA:3777] [KO:K04914]
H01625	Buerger disease Thromboangiitis obliterans	... distribution, it is more prevalent in the Middle East and Far East and classically develops in male smokers younger than 45 years. There may be a predisposition to development of Buerger's disease, although no gene ...	Immune system disease
H01630	Patent ductus arteriosus	... problems, especially in premature infants. It can be associated with an increased incidence of chronic lung disease, intraventricular hemorrhage, and necrotizing enterocolitis. Clinicians may choose to treat ...	Congenital malformation	(PDA2) TFAP2B [HSA:7021] [KO:K09176] (PDA3) PRDM6 [HSA:93166] [KO:K20795]
H01631	Acute heart failure	... (HF), requiring urgent therapy. Intrinsic cardiac abnormalities and comorbid conditions, including lung and renal disease, and sleep-disordered breathing, can contribute to the development of AHF. Factors ...	Cardiovascular disease	PPA2 [HSA:27068] [KO:K01507]
H01643	Chilblains Pernio	... or purple-red nodules on acral skin, most commonly the feet. Chilblains occurs most commonly among young women between the ages of 15 and 30 years but may occur among older individuals or children. Treatment ...	Immune system disease; Skin disease
H01652	Seborrheic dermatitis	... inflammatory reaction that seems to be mediated by free fatty acids, released from sebaceous triglycerides by fungal enzymes such as lipases. The lipid layer of Malassezia can also modulate pro-inflammatory cytokine ...	Immune system disease; Skin disease
H01653	Bipolar disorder Manic depressive illness	... mania (hypomania), depression, or mixed episodes. It is one of the main causes of disability among young people, leading to cognitive and functional impairment and raised mortality, particularly death by ...	Mental and behavioural disorder	(MAFD7) XBP1 [HSA:7494] [KO:K09027]
H01658	Microscopic polyangiitis	... MPA is clinically characterized by small-vessel vasculitis primarily affecting the kidneys and the lungs but other organs may be involved as well. Renal involvement, which can be the only manifestation ...	Immune system disease
H01660	Pityriasis rosea	Pityriasis rosea (PR) is an acute exanthem, which prevalently affects children and young adults. The cause of PR is uncertain but epidemiological (seasonal variation and clustering in communities) and ...	Skin disease
H01682	Syndrome of inappropriate antidiuretic hormone secretion	... SIADH may be chronic. It is often associated with drug use or a lesion in the central nervous system or lung. SIADH is divided into two categories. One is the ectopic ADH syndrome induced by abnormally secreted ...	Endocrine and metabolic disease	AVPR2 [HSA:554] [KO:K04228]
H01713	Diffuse panbronchiolitis	Diffuse panbronchiolitis (DPB) is a chronic inflammatory lung disease, which predominantly affects East Asians. Clinically, DPB is characterized by chronic inflammation of the respiratory bronchioles and ...	Respiratory system disease
H01714	Chronic obstructive pulmonary disease (COPD) Emphysema	Chronic obstructive pulmonary disease (COPD) is a representative chronic inflammatory disorder of the lungs that includes chronic bronchitis and emphysema. COPD is characterized by airway inflammation and ...	Respiratory system disease	SERPINA1 [HSA:5265] [KO:K03984] HMOX1 [HSA:3162] [KO:K00510] MMP1 [HSA:4312] [KO:K01388]
H01716	Idiopathic interstitial pneumonias	Idiopathic interstitial pneumonias (IIP) are a heterogeneous subset of interstitial lung diseases, characterized by unknown aetiology. Despite the varied nature of IIPs, the common histological feature ...	Respiratory system disease
H01721	Anti-glomerular basement membrane (GBM) disease Goodpasture syndrome	... basement membranes. Without prompt diagnosis and treatment, the disease can lead to bleeding in the lungs, kidney failure, and even death. Early and intensive treatment with plasmapheresis and immunosuppression ...	Immune system disease
H01746	STING-associated vasculopathy with onset in infancy	... earlobes, or nose, leading to microangiopathic thrombosis, vessel occlusion, and even risk of gangrene. Some SAVI patients may present chronic interstitial lung disease, which can be severe and lethal.	Immune system disease	STING1 [HSA:340061] [KO:K12654]
H01761	Immunoglobulin G4-related disease Immunoglobulin G4-positive multi-organ lymphoproliferative syndrome	... autoimmune pancreatitis, sclerosing cholangitis, Kuttner's tumour, inflammatory pseudotumor of the lung, liver, and breast, retroperitoneal and mediastinal fibrosis, interstitial nephritis, autoimmune ...	Immune system disease
H01764	Polysplenia syndrome	... diagnosed incidentally in patients being treated for other disease. The patient has bilateral bilobed lungs with hyparterial bronchi, abnormal location of abdominal solid organs and malrotation of bowels ...	Congenital malformation
H01786	Congenitally corrected transposition of the great arteries	... because the flow of blood is normal with the deoxygenated systemic venous blood being pumped to the lungs and the well oxygenated pulmonary venous blood being pumped to the body. More than 90% of patients ...	Congenital malformation
H01793	Young-Simpson syndrome Say-Barber-Biesecker-Young-Simpson syndrome Say-Barber-Biesecker variant of Ohdo syndrome	Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), also referred to as the Say-Barber-Biesecker variant of Ohdo syndrome, is a rare multiple anomaly syndrome characterized by severe intellectual disability ...	Congenital malformation	KAT6B [HSA:23522] [KO:K11306]
H01794	Genitopatellar syndrome	... features, corpus callosum agenesis, and severe intellectual disability. GPS and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) [DS:H01793] are clinically similar disorders with some overlapping features ...	Congenital malformation	KAT6B [HSA:23522] [KO:K11306]
H01795	Blepharophimosis-mental retardation syndrome Ohdo syndrome	... by Verloes et al: (1) del(3p) syndrome; (2) BMRS, Ohdo type; (3) BMRS, SBBYS (Say-Barber/Biesecker/Young-Simpson) type [DS:H01793]; (4) BMRS, MKB (Maat-Kievit-Brunner) type; (5) BMRS, Verloes type. BMR ...	Congenital malformation	(SBBYS type) KAT6B [HSA:23522] [KO:K11306] (MKB type) MED12 [HSA:9968] [KO:K15162]
H01798	Autosomal dominant neovascular inflammatory vitreoretinopathy	... In most patients the diagnosis is difficult to make before age 40. Electroretinography can help make the diagnosis in younger individuals in whom the only other sign is the presence of vitreous cells.	Nervous system disease	CAPN5 [HSA:726] [KO:K08574]
H01813	Lennox-Gastaut syndrome	... most commonly first manifests in children between 3 and 5 years of age, but onset can also occur at younger and older ages. It has been reported that 20-36% of children diagnosed with LGS syndrome have a ...	Nervous system disease	MAPK10 [HSA:5602] [KO:K04440]
H01823	Myoclonic-astatic epilepsy Doose syndrome	Myoclonic astatic epilepsy (MAE), also known as Doose syndrome, is a generalized epilepsy syndrome of young children that includes multiple different seizure types, of which myoclonic and astatic seizures ...	Nervous system disease
H01851	Congenital scoliosis associated with rib anomalies	... congenital scoliosis associated with fused ribs may affect thoracic function and the growth of the lungs in young children and lead to a thoracic insufficiency syndrome. The vertebral expandable prosthetic ...	Congenital malformation
H01866	Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis	... idiopathic PAH (IPAH). PCH is histologically characterized by localized capillary proliferation within the lung in which capillaries invade the pulmonary interstitium, vessels and, less commonly, airways. PCH ...	Cardiovascular disease	(PVOD1) BMPR2 [HSA:659] [KO:K04671] (PVOD2) EIF2AK4 [HSA:440275] [KO:K16196]
H01871	Isolated hypoganglionosis	... challenges secondary to ill-defined diagnostic criteria. The symptoms of IHG resemble classical Hirschsprung disease (HD), and include severe acute and chronic constipation, ileus, and enterocolitis. Histologically ...	Digestive system disease
H01873	Obliterative bronchiolitis Bronchiolitis obliterans	... associated with occupational inhalation injuries, hypersensitivity pneumonitis, and autoimmune disorders. In lung transplant recipients, bronchiolitis obliterans syndrome is the major cause of death after the first ...	Respiratory system disease
H01895	Attention deficit hyperactivity disorder (ADHD)	... problems related to education, social functioning, and/or other mental illness as adolescents and young adults. Although heritability estimates are consistently high, ADHD is a genetically complex disorder ...	Mental and behavioural disorder	(ADHD) DRD5 [HSA:1816] [KO:K05840] (ADHD) DRD4 [HSA:1815] [KO:K04147] (ADHD7) TPH2 [HSA:121278] [KO:K00502] (ADHD8) CDH2 [HSA:1000] [KO:K06736]
H01906	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	... involvement are noted during the second decade of life, and progressive dyspnea and restrictive impairment of lung function were linked to pulmonary fibrosis. Other features are exocrine pancreatic insufficiency ...	Congenital malformation	FAM111B [HSA:374393] [KO:K24275]

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