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Entry	Name	Description	Category	Gene
H01463	Mycosis fungoides	... immunological and genetic perturbations that are associated with these diseases. Mutations in the p53, p15, p16, JunB, and PTEN genes generally occur in later-stage disease. Loss of normal apoptotic T-cell pathways ...	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]
H01541	Argentine hemorrhagic fever	Argentine hemorrhagic fever is an infectious disease caused by Junin virus (JUNV), a New World arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. JUNV was first isolated ...	Viral infectious disease
H01552	Down syndrome Trisomy 21	... 95% of cases of DS are due to the presence of an extra (third) copy of HSA21. Most often, the non-disjunction event leading to DS occurs in maternal meiosis I. In about 5% of patients, 1 copy is translocated ...	Chromosomal abnormality
H01588	Cluster headache	... sites, with duration of pain attacks of 15 to 180 min. The pain of CH is associated with ipsilateral conjunctival injection, lacrimation, nasal congestion, rhinorrhea, forehead and facial sweating, miosis ...	Nervous system disease
H01594	Myasthenia gravis	... (MUSK), lipoprotein-related protein 4 (LRP4), or agrin in the postsynaptic membrane at the neuromuscular junction. Patients should be classified into subgroups to help with therapeutic decisions and prognosis ...	Immune system disease; Nervous system disease
H01641	Dry eye disease Keratoconjunctivitis sicca	Dry eye disease (also called keratoconjunctivitis sicca) is multifactorial disease of the tears, lids, and ocular surface which can result in symptoms of discomfort and/or visual disturbance and/or tear ...	Nervous system disease
H01644	Blepharitis	... dysfunction (MGD). MGD is one cause of posterior blepharitis but others include infectious or allergic conjunctivitis, and rosacea. The diagnosis of blepharitis is almost always based on the history and clinical ...	Nervous system disease
H01650	Pemphigoid	... membranes characterized by autoantibodies directed against structural proteins of the dermal-epidermal junction that clinically can manifest with urticarial lesions, tense blisters, and erosions which may ...	Immune system disease; Skin disease
H01654	Lichen planus	... the most frequently involved areas. Other mucous membranes (including the genitalia, esophagus, and conjunctiva) and skin appendages (e.g., scalp hair and nails) can also be affected. The etiology and pathogenesis ...	Immune system disease; Skin disease
H01694	Stevens-Johnson syndrome Toxic epidermal necrolysis Lyell syndrome	... epidermal separation occurs and vesicles and bullae are formed. Inflammatory changes including purulent conjunctivitis, erosion, ulcer and crusts may be observed in the eye, mouth, nose, pharynx, esophagus, trachea ...	Immune system disease; Skin disease	HLA-A [HSA:3105] [KO:K06751] HLA-B [HSA:3106] [KO:K06751]
H01718	Kawasaki disease Mucocutaneous lymph node syndrome	... presence of a fever lasting five or more days, accompanied by four out of five findings: bilateral conjunctival injection, oral changes such as cracked and erythematous lips and strawberry tongue, cervical ...	Immune system disease
H01737	Epidermolysis bullosa	... clinically significant extracutaneous complications. Some subtypes may lead to death, even in early infancy. There are four major types of EB: EB simplex, junctional EB, dystrophic EB, and Kindler syndrome.	Congenital malformation	(EBLA) DSP [HSA:1832] [KO:K10381]
H01814	Stromme syndrome Apple peel syndrome with microcephaly and ocular anomalies Jejunal atresia with microcephaly and ocular anomalies	Stromme syndrome is a rare multiple congenital malformation syndrome consisting in apple peel intestinal atresia, ocular anomalies, microcephaly, and developmental delay. It is an autosomal-recessive disease ...	Congenital malformation	(STROMS) CENPF [HSA:1063] [KO:K11499]
H01884	Auriculocondylar syndrome Question mark ears syndrome	... mandibular hypoplasia and question-mark ears (QME). QMEs, consisting of a specific defect at the lobe-helix junction, can also occur as an isolated anomaly. Studies have indicated the essential role of endothelin ...	Congenital malformation	(ARCND1) GNAI3 [HSA:2773] [KO:K04630] (ARCND2A/2B) PLCB4 [HSA:5332] [KO:K05858] (ARCND3/QME) EDN1 [HSA:1906] [KO:K16366] (ARCND4) HDAC9 [HSA:9734] [KO:K11409]
H01936	Hyperbiliverdinemia	... green jaundice and a green discoloration of body fluids. It has been reported that hyperbiliverdinaemia is caused by a genetic defect in the BLVRA gene in conjunction with decompensated liver cirrhosis.	Inherited metabolic disorder	BLVRA [HSA:644] [KO:K00214]
H02159	Familial cold autoinflammatory syndrome Familial cold urticaria	... familial cold urticaria, is an autosomal dominant inflammatory disease that is characterized by episodes of rash, arthralgia, fever, conjunctivitis, and leukocytosis after generalized exposure to cold.	Immune system disease	(FCAS1) NALP3 [HSA:114548] [KO:K12800] (FCAS2) NALP12 [HSA:91662] [KO:K20865] (FCAS3) PLCG2 [HSA:5336] [KO:K05859] (FCAS4) NLRC4 [HSA:58484] [KO:K12805]
H02487	Diencephalic-mesencephalic junction dysplasia syndrome	Diencephalic-mesencephalic junction dysplasia syndrome (DMJDS) is a novel autosomal recessive brain malformation. DMJDS is associated with a characteristic butterfly-shaped contour of the midbrain on axial ...	Congenital malformation	(DMJDS1) PCDH12 [HSA:51294] [KO:K16499] (DMJDS2) GSX2 [HSA:170825] [KO:K09310]
H02492	Microcephaly, growth restriction, and increased sister chromatid exchange	... has been reported. TOP3A encodes topoisomerase III alpha, which binds to BLM as part of the BTRR complex, and promotes dissolution of double Holliday junctions arising during homologous recombination.	Congenital malformation	(MGRISCE1) BLM [HSA:641] [KO:K10901] (MGRISCE2) TOP3A [HSA:7156] [KO:K03165]
H02555	Muckle-Wells syndrome	... syndrome (MWS) is a rare inherited autoinflammatory disease characterized by fevers, rashes, arthralgia, conjunctivitis, and sensorineural hearing loss. In MWS, NLRP3 gene mutations are associated with excessive ...	Immune system disease	NLRP3 [HSA:114548] [KO:K12800]
H02648	Acantholytic blistering of the oral and laryngeal mucosa	... (ABOLM) is a rare disease characterized by recurrent erosions in a tongue and laryngeal mucosa. Skin, conjunctival and genital mucosa, hair, and nails are unaffected. It has been reported that mutations in ...	Digestive system disease	DSG3 [HSA:1830] [KO:K07598]
H02674	Atrial standstill	... persistent absence of electrical and mechanical activity in the atria. On surface electrocardiogram, AS is distinguished by absence of the P wave, bradycardia, and junctional or ventricular escape rhythm.	Cardiovascular disease	(ATRST1) GJA5 [HSA:2702] [KO:K07614] (ATRST2) NPPA [HSA:4878] [KO:K12334]

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