{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2160&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2120&ordering=identifier","results":[{"identifier":"Eosinophil peroxidase deficiency.","acronym":"EPXD.","accession":"DI-01529","synonyms":"Partial eosinophil peroxidase deficiency.; Peroxidase and phospholipid deficiency in eosinophils.; Presentey anomaly.; ","cross_references":"MeSH; D007960.","definition":"A rare abnormality without clinical symptoms characterized by decreased or absent peroxidase activity and decreased volume of the granule matrix in eosinophils. ","keywords":null},{"identifier":"Epidermodysplasia verruciformis 1.","acronym":"EV1.","accession":"DI-01531","synonyms":null,"cross_references":"MeSH; D004819.","definition":"A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV1 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Epidermodysplasia verruciformis 2.","acronym":"EV2.","accession":"DI-05436","synonyms":null,"cross_references":"MeSH; D004819.","definition":"A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV2 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Epidermodysplasia verruciformis 3.","acronym":"EV3.","accession":"DI-05446","synonyms":null,"cross_references":"MeSH; D004819.","definition":"A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV3 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Epidermodysplasia verruciformis 4.","acronym":"EV4.","accession":"DI-05470","synonyms":null,"cross_references":"MeSH; D004819.","definition":"A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV4 patients have decreased number of naive T cells, increased memory and effector T cells, and impaired T-cell receptor signaling. EV4 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Epidermodysplasia verruciformis 5.","acronym":"EV5.","accession":"DI-05471","synonyms":null,"cross_references":"MeSH; D004819.","definition":"A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV5 patients shows T-cell lymphopenia, particularly affecting CD4+ T cells. EV5 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Epidermolysis bullosa dystrophica, autosomal dominant.","acronym":"DDEB.","accession":"DI-00451","synonyms":"Albopapuloid dominant dystrophic epidermolysis bullosa.; Autosomal dominant dystrophic epidermolysis bullosa.; EBDCT.; EBDD.; Epidermolysis bullosa dystrophica, Cockayne-Touraine type.; Epidermolysis bullosa dystrophica, Pasini type.; ","cross_references":"MeSH; D016108.","definition":"A group of autosomal dominant blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms to mild forms with limited and localized scarring, and less frequent extracutaneous manifestations. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa dystrophica, autosomal recessive.","acronym":"RDEB.","accession":"DI-03090","synonyms":"Autosomal recessive dystrophic epidermolysis bullosa.; EBR1.; Epidermolysis bullosa dystrophica, generalized severe, autosomal recessive.; Epidermolysis bullosa dystrophica, Hallopeau-Siemens type.; ","cross_references":"MeSH; D016108.","definition":"A group of autosomal recessive blistering skin diseases characterized by tissue separation which occurs below the dermal-epidermal basement membrane at the level of the anchoring fibrils. Various clinical types with different severity are recognized, ranging from severe mutilating forms, such as epidermolysis bullosa dystrophica Hallopeau-Siemens type, to mild forms with limited localized scarring and less frequent extracutaneous manifestations. Mild forms include epidermolysis bullosa mitis and epidermolysis bullosa localisata. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa dystrophica, Bart type.","acronym":"B-DEB.","accession":"DI-00452","synonyms":"Epidermolysis bullosa with congenital localized absence of skin and deformity of nails.; ","cross_references":"MeSH; D016108.","definition":"An autosomal dominant form of dystrophic epidermolysis bullosa characterized by congenital localized absence of skin, skin fragility and deformity of nails. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa dystrophica, pretibial type.","acronym":"PR-DEB.","accession":"DI-00455","synonyms":null,"cross_references":"MeSH; D016108.","definition":"A form of dystrophic epidermolysis bullosa characterized by pretibial blisters that develop into prurigo-like hyperkeratotic lesions. It predominantly affects the pretibial areas, sparing the knees and other parts of the skin. Other clinical features include nail dystrophy, albopapuloid skin lesions, and hypertrophic scars without pretibial predominance. The phenotype shows considerable interindividual variability. Inheritance is autosomal dominant. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa dystrophica, with subcorneal cleavage.","acronym":"EBDSC.","accession":"DI-00456","synonyms":null,"cross_references":"MeSH; D016108.","definition":"A bullous skin disorder with variable sized clefts just beneath the level of the stratum corneum. Clinical features include blisters, milia, atrophic scarring, nail dystrophy, and oral and conjunctival involvement, as seen in dystrophic epidermolysis bullosa. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa, junctional 1A, intermediate.","acronym":"JEB1A.","accession":"DI-00502","synonyms":"Epidermolysis bullosa atrophicans generalisata mitis.; Epidermolysis bullosa junctionalis Disentis type.; Epidermolysis bullosa junctionalis progressive.; Epidermolysis bullosa junctionalis severe non-lethal.; GABEB.; Generalized atrophic benign epidermolysis bullosa.; Generalized junctional epidermolysis bullosa mitis.; Non-Herlitz junctional epidermolysis bullosa.; ","cross_references":"MeSH; D016109.","definition":"A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. Junctional epidermolysis bullosa is characterized by blistering that occurs at the level of the lamina lucida in the skin basement membrane. JEB1A is an autosomal recessive, non-lethal, adult form characterized by life-long blistering of the skin, associated with hair and tooth abnormalities. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa, junctional 1B, severe.","acronym":"JEB1B.","accession":"DI-00457","synonyms":"Epidermolysis bullosa, junctional, Herlitz type.; Epidermolysis letalis.; Junctional epidermolysis bullosa gravis.; Junctional epidermolysis bullosa Herlitz-Pearson type.; ","cross_references":"MeSH; D016109.","definition":"A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. Junctional epidermolysis bullosa is characterized by blistering that occurs at the level of the lamina lucida in the skin basement membrane. JEB1B is an autosomal recessive, severe form characterized by bullous lesions appearing at birth, and extensive denudation of skin and mucous membranes that may be hemorrhagic. Death occurs usually within the first six months of life. Occasionally, children survive to teens. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa, junctional 2A, intermediate.","acronym":"JEB2A.","accession":"DI-06337","synonyms":"Epidermolysis bullosa, junctional 2A, generalized intermediate.; Epidermolysis bullosa, junctional 2A, non-Herlitz type.; ","cross_references":"MeSH; D016109.","definition":"A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB2A is an autosomal recessive, intermediate form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. In intermediate forms of junctional epidermolysis bullosa, blistering does not lead to the formation of chronic granulation tissue and does not affect the lifespan of affected individuals. Nail dystrophy and dental enamel defects are present. Scarring or non-scarring alopecia and diffuse hair loss may occur. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa, junctional 2B, severe.","acronym":"JEB2B.","accession":"DI-06338","synonyms":"Epidermolysis bullosa, junctional 2B, generalized severe.; Epidermolysis bullosa, junctional 2B, Herlitz type.; ","cross_references":"MeSH; D016109.","definition":"A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB2B is an autosomal recessive form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. It belongs to the severe spectrum of junctional epidermolysis bullosa (previously known as generalized severe or Herlitz type), characterized by onset of blistering over large regions of the body at birth or in early infancy. Blistering also affects the mucous membranes, such as the moist lining of the mouth and digestive tract, which can make it difficult to eat and digest food. The extensive blistering leads to scarring and the formation of red, bumpy patches called granulation tissue. Other complications can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities, dental enamel defects, and alopecia. Severe, junctional forms are associated with death in the first 6 to 24 months of life. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa, junctional 2C, laryngoonychocutaneous.","acronym":"JEB2C.","accession":"DI-01879","synonyms":"Laryngoonychocutaneous syndrome.; LOCS.; LOGIC syndrome.; ","cross_references":"MeSH; D016109.","definition":"A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB2C is an autosomal recessive, severe form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. JEB2C manifestations appear in early infancy and include hoarse cry, skin ulceration, nail dystrophy with recurrent loss of toenails and fingernails, and conjunctival scarring. Some patients have amelogenesis imperfecta. Death in childhood is common. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa, junctional 3A, intermediate.","acronym":"JEB3A.","accession":"DI-06340","synonyms":"Epidermolysis bullosa, junctional 3A, generalized intermediate.; Epidermolysis bullosa, junctional 3A, non-Herlitz type.; ","cross_references":"MeSH; D016109.","definition":"A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB3A is an autosomal recessive, intermediate form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. In intermediate forms of junctional epidermolysis bullosa, blistering does not lead to the formation of chronic granulation tissue and does not affect the lifespan of affected individuals. Nail dystrophy and dental enamel defects are present. Scarring or non-scarring alopecia and diffuse hair loss may occur. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa, junctional 3B, severe.","acronym":"JEB3B.","accession":"DI-06339","synonyms":"Epidermolysis bullosa, junctional 3B, generalized severe.; Epidermolysis bullosa, junctional 3B, Herlitz type.; ","cross_references":"MeSH; D016109.","definition":"A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB3B is an autosomal recessive form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. It belongs to the severe spectrum of junctional epidermolysis bullosa (previously known as generalized severe or Herlitz type), characterized by onset of blistering over large regions of the body at birth or in early infancy. Blistering also affects the mucous membranes, such as the moist lining of the mouth and digestive tract, which can make it difficult to eat and digest food. The extensive blistering leads to scarring and the formation of red, bumpy patches called granulation tissue. Other complications can include fusion of the fingers and toes, abnormalities of the fingernails and toenails, joint deformities, dental enamel defects, and alopecia. Severe, junctional forms are associated with death in the first 6 to 24 months of life. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa, junctional 4, intermediate.","acronym":"JEB4.","accession":"DI-06341","synonyms":"Epidermolysis bullosa, generalized atrophic benign.; Epidermolysis bullosa, junctional, localisata variant.; Epidermolysis bullosa, junctional 4, non-Herlitz type.; GABEB.; ","cross_references":"MeSH; D016109.","definition":"A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB4 is an autosomal recessive, intermediate form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. In intermediate forms of junctional epidermolysis bullosa, blistering does not lead to the formation of chronic granulation tissue and does not affect the lifespan of affected individuals. Nail dystrophy and dental enamel defects are present. Scarring or non-scarring alopecia and diffuse hair loss may occur. JEB4 patients manifest blisters at birth or shortly afterward. Blisters may heal with atrophic scarring and variable hypo- or hyperpigmentation. Oral mucosa may be involved. ","keywords":"KW-0263:Epidermolysis bullosa.; "},{"identifier":"Epidermolysis bullosa, junctional 5A, intermediate.","acronym":"JEB5A.","accession":"DI-06342","synonyms":"Epidermolysis bullosa, junctional 5A, generalized intermediate.; Epidermolysis bullosa, junctional 5A, non-Herlitz type.; ","cross_references":"MeSH; D016109.","definition":"A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB5A is an autosomal recessive, intermediate form in which blistering lesions occur between the epidermis and the dermis at the lamina lucida level of the basement membrane zone. In intermediate forms of junctional epidermolysis bullosa, blistering does not lead to the formation of chronic granulation tissue and does not affect the lifespan of affected individuals. Nail dystrophy and dental enamel defects are present. Scarring or non-scarring alopecia and diffuse hair loss may occur. ","keywords":"KW-0263:Epidermolysis bullosa.; "}]}