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Entry	Name	Description	Category	Gene
H01630	Patent ductus arteriosus	... pulmonary artery and the aorta. After birth, the DA normally closes within the first several days of life. If present after the age of 3 month, this condition is known as PDA. PDA can cause significant ...	Congenital malformation	(PDA2) TFAP2B [HSA:7021] [KO:K09176] (PDA3) PRDM6 [HSA:93166] [KO:K20795]
H01636	Fibromyalgia Fibromyalgia syndrome	... expressed in the presence of environmental trigger, which lead to expression of multiple genes that amplify pain perception in the pain processing pathway. Although there is no ultimate cure for fibromyalgia ...	Musculoskeletal disease
H01645	Hyperthyroidism Thyrotoxicosis	... before definitive treatment with surgery or radioactive iodine, and infrequently used as long-term treatment when the other two therapies are contraindicated or the patient has a short life expectancy.	Endocrine and metabolic disease
H01652	Seborrheic dermatitis	... back, axilla, and groin. Its incidence peaks during three age periods: in the first three months of life, during puberty, and in adulthood with an apex at 40 to 60 years of age. The cause of SD is unknown ...	Immune system disease; Skin disease
H01663	Pustular psoriasis	... painful skin, fever, and chills. The disease course varies from a benign, chronic process to an acute life-threatening episode, and as such optimal treatment depends on severity. Diseases considered within ...	Immune system disease; Skin disease
H01664	Panic disorder	... sweating and shaking. Some physical illnesses (e.g. asthma) commonly occur with panic disorder, and certain lifestyle factors (e.g. smoking) increase the risk for the disorder, but causal pathways are still unclear ...	Mental and behavioural disorder
H01667	Medulloblastoma	... PTCH1 and SUFU, or somatic missense mutations activating SMO. Group 3 tumors are characterized by MYC amplification resulting in high MYC mRNA expression levels compared with SHH and Group 4 tumors.The most ...	Cancer	PTCH1 [HSA:5727] [KO:K06225] PTCH2 [HSA:8643] [KO:K11101] ELP1 [HSA:8518] [KO:K11373] SUFU [HSA:51684] [KO:K06229] SMO [HSA:6608] [KO:K06226] AXIN1 [HSA:8312] [KO:K02157] AXIN2 [HSA:8313] [KO:K04385] APC [HSA:324 10297] [KO:K02085] CTNNB1 [HSA:1499] [KO:K02105] TP53 [HSA:7157] [KO:K04451] NF2 [HSA:4771] [KO:K16684] MEN1 [HSA:4221] [KO:K14970] KDM6A [HSA:7403] [KO:K11447] MYC (amplification) [HSA:4609] [KO:K04377] OTX2 (amplification) [HSA:5015] [KO:K18490] TERT (amplification) [HSA:7015] [KO:K11126] MDM2 (amplification) [HSA:4193] [KO:K06643]
H01668	Neoplastic meningitis	... molecular changes responsible for the development of NM are not well delineated, but it is likely that they involve changes in molecules responsible for tumor cell adhesion, migration, and proliferation.	Nervous system disease
H01672	Juvenile idiopathic arthritis	... spiking fever, rash, pericarditis, peritonitis, lymphadenopathy and organomegaly. A severe and often life-threatening complication occurring in 10-30% of patients with systemic JIA is macrophage activation ...	Immune system disease	IL6 [HSA:3569] [KO:K05405] MIF [HSA:4282] [KO:K07253] (JUVAR) LACC1 [HSA:144811] [KO:K05810]
H01674	Ankylosing spondylitis Bechterew disease	... losses occur during the first 10 years of disease. It usually begins in the second or third decade of life, preferentially in HLA-B27-positive Caucasian males. Its etiology and pathogenesis are not completely ...	Musculoskeletal disease	HLA-B [HSA:3106] [KO:K06751]
H01676	Normal pressure hydrocephalus	... usually considered an acquired form of hydrocephalus because the onset of symptoms is not until late in life, it has been reported that a subset of patients with INPH may actually have congenital hydrocephalus ...	Nervous system disease
H01681	Acute pancreatitis	Acute pancreatitis ranges from a mild, self- limiting disease to a life-threatening condition with multiple organ failure. Abdominal pain is the predominant symptom. Nausea and vomiting may accompany the ...	Digestive system disease
H01684	Primary sclerosing cholangitis	... disease of the liver characterized by cholestasis and bile duct fibrosis, leading to decreased quality of life, cirrhosis, and the need for liver transplantation within an average of 12 years. The disease occurs ...	Digestive system disease
H01688	Rapidly progressive glomerulonephritis	Rapidly progressive glomerulonephritis (RPGN) or crescentic glomerulonephritis is a life-threatening disease that destroys kidneys over a period of days to weeks. Proliferation of epithelial cells and ...	Urinary system disease
H01694	Stevens-Johnson syndrome Toxic epidermal necrolysis Lyell syndrome	... mouth, nose, pharynx, esophagus, trachea, gastrointestinal tract, urinary tract and genital mucosae. Life-threatening bleeding and infections may be observed as a result of these changes. The rates of severe ...	Immune system disease; Skin disease	HLA-A [HSA:3105] [KO:K06751] HLA-B [HSA:3106] [KO:K06751]
H01705	Bilateral sudden sensorineural hearing loss	... serious systemic pathology, and is associated with a more severe degree of hearing loss, poorer prognosis following treatment, and more significant impairment in morbidity and overall quality of life.	Nervous system disease	ACTG1 [HSA:71] [KO:K05692] CDH23 [HSA:64072] [KO:K06813] COCH [HSA:1690] [KO:K23574] KCNQ4 [HSA:9132] [KO:K04929] TECTA [HSA:7007] [KO:K18273] TMPRSS3 [HSA:64699] [KO:K09634] WFS1 [HSA:7466] [KO:K14020]
H01712	Fulminant hepatic failure Fulminant hepatitis	Fulminant hepatic failure (FHF) is a life-threatening condition characterized by the rapid deterioration of liver functions and hepatic encephalopathy. FHF is with the basic definition of the onset of ...	Digestive system disease
H01714	Chronic obstructive pulmonary disease (COPD) Emphysema	... with a number of comorbid conditions. The onset of COPD generally occurs in the 6th to 8th decades of life. Early onset COPD is defined as disease onset before the age of 50 years, irrespective of smoking ...	Respiratory system disease	SERPINA1 [HSA:5265] [KO:K03984] HMOX1 [HSA:3162] [KO:K00510] MMP1 [HSA:4312] [KO:K01388]
H01722	Galloway-Mowat syndrome	... hypotonia, and seizures in half of all cases. The nephrotic syndrome occurs in the first four months of life with an average of three months, and a congenital nephrotic syndrome has rarely been described. ...	Congenital malformation	(GAMOS1) WDR73 [HSA:84942] [KO:K24754] (GAMOS2) LAGE3 [HSA:8270] [KO:K15902] (GAMOS3) OSGEP [HSA:55644] [KO:K01409] (GAMOS4) TP53RK [HSA:112858] [KO:K08851] (GAMOS5) TPRKB [HSA:51002] [KO:K15901] (GAMOS6) WDR4 [HSA:10785] [KO:K15443] (GAMOS7) NUP107 [HSA:57122] [KO:K14301] (GAMOS8) NUP133 [HSA:55746] [KO:K14300] (GAMOS9) GON7 [HSA:84520] [KO:K15903] (GAMOS10) YRDC [HSA:79693] [KO:K07566]
H01724	HTLV1-associated myelopathy Tropical spastic paraparesis	... agent of HAM/TSP. Although the majority of HTLV-1-infected individuals remain asymptomatic during their lifetime, approximately one percent of this population develops a myelopathy consisting of a chronic ...	Immune system disease; Nervous system disease
H01726	Membranoproliferative glomerulonephritis	Membranoproliferative glomerulonephritis (MPGN) represents a pattern of glomerular injury, characterized by mesangial proliferation and expansion, lobularization of the glomerular tufts, and double contours ...	Immune system disease; Urinary system disease	CFH [HSA:3075] [KO:K04004] CFHR5 [HSA:81494] [KO:K23817] DGKE [HSA:8526] [KO:K00901]
H01741	Autoinflammation lipodystrophy and dermatosis syndrome Proteasome associated autoinflammatory syndromes (PRAAS) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP) Japanese autoinflammatory syndrome with lipodystrophy (JASL)	... the basal ganglia. Acute cardiovascular event is the leading cause of death in these patients for whom life expectancy is notably reduced. Management of these patients is by palliative care. The need for ...	Immune system disease	PSMB8 [HSA:5696] [KO:K02740]
H01744	Polyglucosan body myopathy	... with higher concentrations of acute-phase markers, hepatosplenomegaly and lymphadenopathy very early in life. These features are commonly seen in the primary autoinflammatory diseases, although these HOIL-1-deficient ...	Immune system disease	(PGBM1) RBCK1 [HSA:10616] [KO:K10630] (PGBM2) GYG1 [HSA:2992] [KO:K00750]
H01758	Relapsing polychondritis	... spectrum may vary from intermittent inflammatory episodes leading to unesthetic structural deformities to life-threatening cardiopulmonary manifestations, such as airway collapse and valvular regurgitation. ...	Musculoskeletal disease
H01759	Autoimmune acquired factor XIII (F13) deficiency Autoimmune hemorrhaphilia XIII/13	... autoimmune hemorrhaphilia resulted from the generation of anti-F13 antibodies (AHFXIII) is a rare but severe life-threatening bleeding disorder. In contrast, non-autoimmune hemorrhagic acquired F13 deficiency (HAF13D) ...	Hematologic disease
H01760	Hepatic glycogen storage disease	... patients with GSD IIIb have only liver-related phenotypes. GSD IV usually presents in the first year of life, with hepatomegaly and growth retardation. GSD VI and IX are caused by a deficiency of the liver ...	Inherited metabolic disorder	(GSB Ia) G6PC [HSA:2538] [KO:K01084] (GSB Ib) SLC37A4 [HSA:2542] [KO:K08171] (GSB IIIa/b) AGL [HSA:178] [KO:K01196] (GSB IV) GBE1 [HSA:2632] [KO:K00700] (GSB VI) PYGL [HSA:5836] [KO:K00688] (GSB IX) PHKA2 [HSA:5256] [KO:K07190] (GSB IXb) PHKB [HSA:5257] [KO:K07190] (GSB IXc) PHKG2 [HSA:5261] [KO:K00871] (GSB 0a) GYS2 [HSA:2998] [KO:K00693]
H01761	Immunoglobulin G4-related disease Immunoglobulin G4-positive multi-organ lymphoproliferative syndrome	Immunoglobulin G4-related disease is a distinct clinical entity characterised by hyper-IgG4 gammaglobulinemia and IgG4 positive plasma cell infiltration in the tissue. Other characteristic features of ...	Immune system disease
H01767	Henoch-Schonlein purpura nephritis	... mainly characterized by acute episodes of glomerular inflammation with endocapillary and mesangial proliferation, fibrin deposits, and epithelial crescents that can heal spontaneously or lead to chronic ...	Immune system disease; Urinary system disease
H01777	Schwartz-Jampel syndrome	... affected patients, problems with motor development frequently become evident during the first year of life. SJS type 2, also known as Stuve-Wiedemann syndrome [DS:H00462], is a genetically distinct disorder ...	Nervous system disease; Musculoskeletal disease	HSPG2 [HSA:3339] [KO:K06255]
H01784	Primary hyperchylomicronemia	... referred to as mixed dyslipidemia (known as type 5 hyperlipoproteinemia) [DS:H00157], can present later in life and is characterized by increased levels of hepatically derived triglyceride-rich lipoproteins and ...	Inherited metabolic disorder	LPL [HSA:4023] [KO:K01059] APOC2 [HSA:344] [KO:K22287] GPIHBP1 [HSA:338328] [KO:K20001] LMF1 [HSA:64788] [KO:K23555] APOA5 [HSA:116519] [KO:K09025]
H01788	Klippel-Trenaunay-Weber syndrome	... causing limb asymmetry. Clinical presentation may vary from being asymptomatic to developing potentially life-threatening complications, such as deep vein thrombosis (DVT), pulmonary embolism (PE), and recurrent ...	Congenital malformation
H01798	Autosomal dominant neovascular inflammatory vitreoretinopathy	... anterior chamber, photoreceptor degeneration, vitreous hemorrhages, epiretinal membranes (ERMs), and proliferative iris and retinal neovascularization. It is caused by mutations in CAPN5 gene, encoding an ...	Nervous system disease	CAPN5 [HSA:726] [KO:K08574]
H01803	Pulmonary atresia with ventricular septal defect	... increased incidence of sudden death. An association between conotruncal cardiac abnormalities and 22q11.2 deletion during fetal life has been investigated and reported to occur in 20% of cases of PA-VSD.	Congenital malformation
H01807	Hereditary diffuse leukoencephalopathy with spheroids	... other phenotypes. HDLS is a rare progressive neurodegenerative disease with symptomatic onset in midlife and death within a few years after symptom onset. White matter lesions with accumulation of axonal ...	Neurodegenerative disease	(HDLS1) CSF1R [HSA:1436] [KO:K05090] (HDLS2) AARS1 [HSA:16] [KO:K01872]
H01815	Malignant migrating partial seizures in infancy	... epileptic encephalopathy. The common clinical features are seizure onset within the first 6 months of life, occurrence of migrating polymorphic focal seizures, and progressive deterioration of psychomotor ...	Nervous system disease	PLCB1 [HSA:23236] [KO:K05858] TBC1D24 [HSA:57465] [KO:K21841] KCNT1 [HSA:57582] [KO:K04946] SLC12A5 [HSA:57468] [KO:K23967] SCN1A [HSA:6323] [KO:K04833]
H01818	Dravet syndrome	... and is accompanied by impaired psychomotor and neurologic development, occurring in the first year of life in apparently normal infants. Patients typically present with febrile hemiclonic or generalised ...	Nervous system disease	SCN1A [HSA:6323] [KO:K04833]
H01825	Spondylometaphyseal dysplasia, Sedaghatian type	... irregular iliac crests, and pulmonary haemorrhage. Most of the patients had been reported to have a short life span, and died shortly after birth due to respiratory failure. Half of infants with SMDS are reported ...	Congenital malformation	GPX4 [HSA:2879] [KO:K05361]
H01828	Opsismodysplasia	... hands with sausage-like fingers. Death secondary to respiratory failure during the first few years of life was reported in the cases originally described but the outcome is now known to be highly variable ...	Congenital malformation	INPPL1 [HSA:3636] [KO:K15909]
H01833	Hemimegalencephaly	Hemimegalencephaly is a rare brain malformation caused by anomalous neuronal and glial proliferation or differentiation, with an abnormally enlarged and dysplastic hemisphere. It can occur as an isolated ...	Congenital malformation
H01843	Cerebrocostomandibular syndrome	... posterior rib gaps, and abnormal costo-transverse articulation. Mortality is 35%-50% in the first year of life and death is due to respiratory failure. However, general development progresses well once the initial ...	Congenital malformation	SNRPB [HSA:6628] [KO:K11086]

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