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Entry	Name	Description	Category	Gene
H01504	Vogt-Koyanagi-Harada syndrome Vogt-Koyanagi-Harada disease Uveomeningoencephalitic syndrome	... systemic autoimmune disease that targets melanocyte-rich tissues, such as the eye, inner ear, meninges, skin and hair. This disease is characterized by panuveitis, often associated with neurologic and cutaneous ...	Immune system disease; Nervous system disease	HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DRB4 [HSA:3126] [KO:K06752]
H01512	Langerhans cell histiocytosis	... proliferation of specialized cells with characteristics resembling antigen-presenting cells that reside in the skin and mucosa. Its clinical presentation is variable and ranges from isolated skin or bone disease ...	Cancer	BRAF (mutation) [HSA:673] [KO:K04365] MAP2K1 (mutation) [HSA:5604] [KO:K04368]
H01516	Adult onset Still disease Adult Still disease	... systemic inflammatory disorder. The disease manifestations are protean ranging from high fever, arthralgia, skin rash, sore throat, lymphadenopathy, and hepatosplenomegaly accompanied by systemic manifestations ...	Immune system disease
H01519	Scabies	... cutaneous inflammation and common among many different species of animals. S. scabiei burrows into the skin of their host, reproducing and laying eggs in the burrows. Transmission of the mite commonly occurs ...	Parasitic 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
H01530	Pinta Mal del pinto Carate	... mal del pinto or carate, is the most benign of the endemic treponematoses since it affects only the skin. This mild disease is characterized solely by alterations in skin color. Pinta is still prevalent ...	Bacterial infectious disease
H01531	Bejel Endemic syphilis	... bejel are divided into various stages. Patches on the mucous membranes, angular stomatitis, nonitchy skin eruptions, and generalized lymphadenopathy are the most important early manifestations. In the late ...	Bacterial infectious disease
H01555	Merkel cell carcinoma	... (UV) radiation may be a cause, and corresponds with the sites of these tumours, often on sun-exposed skin, mostly (94%) in the White population. UV light may exert local immunomodulating action as it decreases ...	Cancer	TP53 (mutation) [HSA:7157] [KO:K04451] Ha-RAS (mutation) [HSA:3265] [KO:K02833]
H01579	Congenital symmetric circumferential skin creases Kunze-Riehm syndrome Michelin tire baby syndrome	Congenital symmetric circumferential skin creases, also known as Michelin tire baby syndrome, is a rare genetic disorder characterized by generalized folding of excess skin. This feature was first described ...	Congenital malformation	(CSCSC1) TUBB [HSA:203068] [KO:K07375] (CSCSC2) MAPRE2 [HSA:10982] [KO:K10436]
H01595	Cutaneous lupus erythematosus	Cutaneous lupus erythematosus (CLE) is the skin-related form of lupus erythematosus (LE), with a broad spectrum of clinical manifestations and a variable course. CLE is a frequent finding in patients with ...	Immune system disease; Skin disease
H01601	Anaplastic large-cell lymphoma	... anaplastic lymphoma kinase (ALK)-positive ALCL, and, provisionally, ALK-negative ALCL. pcALCL presents in the skin and, while it may involve locoregional lymph nodes, rarely disseminates. ALK-positive ALCL, by definition ...	Cancer	NPM-ALK (translocation) [HSA:238] [KO:K05119] DUSP22-IRF4 (translocation) [HSA:56940] [KO:K14165]
H01604	Polymyositis and dermatomyositis	... adults, but rarely children. DM typically includes subacute progressive proximal muscle weakness and a skin rash. The disease mechanisms of PM and DM that cause muscle damage and dysfunction are not fully ...	Musculoskeletal disease
H01617	Foodborne trematodiasis Foodborne trematode infection	... Metagonimus spp.), freshwater crab or crayfish (Paragonimus spp.), aquatic plants (Fasciola spp., Fasciolopsis buski), snails or tadpoles (Echinostoma spp.), or by drinking contaminated water (Fasciola spp.).	Parasitic infectious disease
H01620	Raynaud syndrome	... referred to as Raynaud phenomenon or secondary RS. The diagnosis is mainly clinical, based on patient descriptions of skin changes. Therapy has been focused on the use of general vasodilation strategies.	Cardiovascular disease
H01625	Buerger disease Thromboangiitis obliterans	... affected hands or feet. Other symptoms include cold insensitivity, diminished peripheral pulses, cyanosis, skin atrophy, and reduced hair growth. As the disease progresses, patients will develop ischemic ulcerations ...	Immune system disease
H01643	Chilblains Pernio	Chilblains, or pernio, is a localized inflammatory lesion of the skin resulting from an abnormal response to cold. It is characterized by persistent purple or purple-red nodules on acral skin, most commonly ...	Immune system disease; Skin disease
H01644	Blepharitis	... anterior blepharitis and posterior blepharitis. Anterior blepharitis describes inflammation of the eyelid skin and eyelash follicles and may be accompanied by squamous debris or collarettes. Anterior blepharitis ...	Nervous system disease
H01645	Hyperthyroidism Thyrotoxicosis	... palpitations, and heat sensitivity. Clinical findings almost always include tachycardia, warm moist skin, the presence of an enlarged thyroid, and a slight tremor. The three options for treating patients ...	Endocrine and metabolic disease
H01648	Pemphigus	Pemphigus is an autoimmune blistering disease of the skin and mucous membranes characterized by circulating autoantibodies that target desmosomal components as well as other epithelial antigens and impair ...	Immune system disease; Skin disease
H01650	Pemphigoid	Pemphigoid diseases are group of autoimmune blistering disorders of the skin and mucous membranes characterized by autoantibodies directed against structural proteins of the dermal-epidermal junction that ...	Immune system disease; Skin disease
H01652	Seborrheic dermatitis	Seborrheic dermatitis (SD) is a common inflammatory dermatological disorder. The characteristic symptoms include scaling, erythema, and itching, which occur most often on the scalp, face, chest, back, ...	Immune system disease; Skin disease
H01654	Lichen planus	Lichen planus (LP) is a chronic inflammatory and immune mediated skin disease with characteristic clinical and histopathologic features. The skin and oral mucosa are the most frequently involved areas ...	Immune system disease; Skin disease
H01656	Psoriasis	Psoriasis (PSORS) is a chronic, immune-mediated inflammatory skin disease, characterized by increased propagation of the epidermis with dilation of dermal capillaries. The major symptoms of psoriasis are ...	Immune system disease; Skin disease	(PSORS1) HLA-C [HSA:3107] [KO:K06751] (PSORS2) CARD14 [HSA:79092] [KO:K20913] (PSORS13) TRAF3IP2 [HSA:10758] [KO:K21124] (PSORS14) IL36RN [HSA:26525] [KO:K05483] (PSORS15) AP1S3 [HSA:130340] [KO:K12395]
H01659	Pityriasis rubra pilaris	Pityriasis rubra pilaris (PRP) is a spectrum of rare chronic inflammatory disorders with papulosquamous eruptions of unknown cause. The prototypical clinical characteristics of PRP are follicular hyperkeratotic ...	Immune system disease; Skin disease	CARD14 [HSA:79092] [KO:K20913]
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
H01661	Xanthoma Xanthomatosis	Xanthomas are benign and usually yellow plaques, papules, or nodules that develop in the cutis and subcutaneous tissue. They evolve as clusters of foam cells and favor the neck, upper trunk, flexural folds ...	Skin disease; Inherited metabolic disorder
H01663	Pustular psoriasis	... widespread erythema. The von Zumbusch type often starts abruptly and can be associated with painful skin, fever, and chills. The disease course varies from a benign, chronic process to an acute life-threatening ...	Immune system disease; Skin disease
H01673	Palmoplantar keratoderma	... lead to a significant improvement in symptoms. Topical therapy with urea-based ointments improves the skin's absorption of moisture and has keratolytic effects. Topical vitamin D therapy is another option	Congenital malformation
H01690	Lichen sclerosus et atrophicus	... atrophicus (LSA) is a chronic inflammatory dermatitis affecting primarily vulvar, perianal and perineal skin. Extragenital lichen sclerosus is most common on the neck, shoulders, and upper portion of the trunk ...	Immune system disease; Skin disease
H01693	Eosinophilic fasciitis Diffuse fasciitis	Eosinophilic fasciitis (EF) is a systemic inflammatory disease characterized by symmetrical swelling and skin induration of the arms and/or legs, evolving into a scleroderma-like appearance, accompanied by ...	Musculoskeletal disease
H01694	Stevens-Johnson syndrome Toxic epidermal necrolysis Lyell syndrome	Stevens Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are severe acute mucocutaneous diseases. The early stage of the disease is characterized by red-purple maculopapular eruptions. Then ...	Immune system disease; Skin disease	HLA-A [HSA:3105] [KO:K06751] HLA-B [HSA:3106] [KO:K06751]
H01695	Erythema multiforme	Erythema multiforme (EM) is an immune-mediated, mucocutaneous condition characterized by "target" lesions. Classically, EM has been separated into 2 subgroups, EM minor and EM major. In EM minor, lesions ...	Immune system disease; Skin disease
H01737	Epidermolysis bullosa	... dozens of clinically and genotypically distinct diseases. It is characterized by mechanically fragile skin that readily blister. Most of the more severe subtypes are associated with clinically significant ...	Congenital malformation	(EBLA) DSP [HSA:1832] [KO:K10381]
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)	... macroglossia, facial and limbs lipoatrophy, and developmental (height, weight, and IQ) retardation. Skin biopsies show immature myeloid-lineage cells with mitoses. Some patients may have joint contracture ...	Immune system disease	PSMB8 [HSA:5696] [KO:K02740]
H01743	Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation	... autoinflammatory disease characterized by early-onset recurrent erythematous plaques and vesiculopustular skin lesions associated with arthralgia, corneal erosions, and interstitial pneumonia. APLAID is an allelic ...	Immune system disease	PLCG2 [HSA:5336] [KO:K05859]
H01745	Cardiofaciocutaneous syndrome	... Affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial characteristics include high ...	Congenital malformation	(CFC1) BRAF [HSA:673] [KO:K04365] (CFC2) KRAS [HSA:3845] [KO:K07827] (CFC3) MAP2K1 [HSA:5604] [KO:K04368] (CFC4) MAP2K2 [HSA:5605] [KO:K04369]
H01747	Costello syndrome	... Patients present with the typical coarse face, deep palmar and plantar creases, redundant and loose skin, severe failure to thrive, congenital heart defect, and mild to severe mental retardation. Hyperpigmentation ...	Congenital malformation	HRAS [HSA:3265] [KO:K02833]
H01750	Thanatophoric dysplasia	... ribs, narrow thorax, macrocephaly, distinctive facial features, brachydactyly, hypotonia, and redundant skin folds along the limbs. Most affected infants die of respiratory insufficiency shortly after birth ...	Congenital malformation	FGFR3 [HSA:2261] [KO:K05094]
H01751	Weaver syndrome	... syndrome and Sotos syndrome, WS patients have additional clinical features including camptodactyly, doughy skin, umbilical hernia, and a low hoarse cry. Recently, mutations in the histone methyltransferase, EZH2 ...	Congenital malformation	EZH2 [HSA:2146] [KO:K11430]
H01758	Relapsing polychondritis	... cartilaginous tissues, including the ear, nose, larynx, trachea, bronchi, peripheral joints, eye, heart, and skin, with high risk of misdiagnosis. The clinical spectrum may vary from intermittent inflammatory episodes ...	Musculoskeletal disease

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