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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2180",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2140",
"results": [
{
"identifier": "Epidermolysis bullosa, junctional 5B, with pyloric atresia.",
"acronym": "JEB5B.",
"accession": "DI-00458",
"synonyms": "Aplasia cutis congenita with gastrointestinal atresia.; Carmi syndrome.; Epidermolysis bullosa letalis, with pyloric atresia.; Junctional epidermolysis bullosa with pyloric atresia.; PA-JEB.; ",
"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. JEB5B is an autosomal recessive, severe, frequently lethal form with variable involvement of skin, nails, mucosa, and with variable effects on the digestive system. It is characterized by mucocutaneous fragility, aplasia cutis congenita, and gastrointestinal atresia, which most commonly affects the pylorus. Pyloric atresia is a primary manifestation rather than a scarring process secondary to epidermolysis bullosa. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa, junctional 6, with pyloric atresia.",
"acronym": "JEB6.",
"accession": "DI-06343",
"synonyms": null,
"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. JEB6 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. Clinical manifestations include severe blistering, atrophic scarring, nail dystrophy, and pyloric atresia. Congenital absence of skin (aplasia cutis congenita) is common, and ear anomalies are also relatively common. Disease course is usually severe and often lethal in the neonatal period. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome.",
"acronym": "JEB7.",
"accession": "DI-03509",
"synonyms": "ILNEB.; Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital.; ",
"cross_references": "MeSH; D017563.",
"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. JEB7 is an autosomal recessive form associated with congenital nephrotic syndrome and interstitial lung disease. The respiratory and renal features predominate, and lung involvement accounts for the lethal course of the disease. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa, lethal acantholytic.",
"acronym": "EBLA.",
"accession": "DI-00459",
"synonyms": "LAEB.; Lethal acantholytic epidermolysis bullosa.; ",
"cross_references": "MeSH; D016109.",
"definition": "A form of epidermolysis bullosa characterized by severe fragility of skin and mucous membranes. The phenotype is lethal in the neonatal period because of immense transcutaneous fluid loss. Typical features include universal alopecia, neonatal teeth, and nail loss. Histopathology of the skin shows suprabasal clefting and acantholysis throughout the spinous layer, mimicking pemphigus. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa pruriginosa.",
"acronym": "EBP.",
"accession": "DI-00460",
"synonyms": null,
"cross_references": "MeSH; D016108.",
"definition": "A distinct clinical subtype of epidermolysis bullosa dystrophica. It is characterized by skin fragility, blistering, scar formation, intense pruritus and excoriated prurigo nodules. Onset is in early childhood, but in some cases is delayed until the second or third decade of life. Inheritance can be autosomal dominant or recessive. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa simplex 1A, generalized severe.",
"acronym": "EBS1A.",
"accession": "DI-00462",
"synonyms": "DM-EBS.; EBS-DM.; Epidermolysis bullosa herpetiformis, Dowling-Meara type.; Epidermolysis bullosa simplex, Dowling-Meara type.; Epidermolysis bullosa simplex, generalized severe.; ",
"cross_references": "MeSH; D016110.",
"definition": "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1A is an autosomal dominant form characterized by generalized intraepidermal skin blistering that begins and is very prominent at birth. EBS1A may be life-threatening in the first year of life. Tendency to blistering diminishes in adolescence. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa simplex 1B, generalized intermediate.",
"acronym": "EBS1B.",
"accession": "DI-00463",
"synonyms": "EBS2.; EBS generalized.; Epidermolysis bullosa simplex, Koebner type.; Epidermolysis bullosa simplex 2.; K-EBS.; ",
"cross_references": "MeSH; D016110.",
"definition": "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1B is an autosomal dominant form characterized by generalized intraepidermal blistering beginning at birth. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa simplex 1C, localized.",
"acronym": "EBS1C.",
"accession": "DI-00465",
"synonyms": "EBS, acral form.; Epidermolysis bullosa of hands and feet.; Epidermolysis bullosa simplex, localized.; Epidermolysis bullosa simplex, Weber-Cockayne type.; WC-EBS.; ",
"cross_references": "MeSH; D016110.",
"definition": "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1C is an autosomal dominant form with intraepidermal blistering mainly restricted to hands and feet beginning in infancy. Nails may be thick and dystrophic. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive.",
"acronym": "EBS1D.",
"accession": "DI-00461",
"synonyms": "EBSB1.; Epidermolysis bullosa simplex, autosomal recessive 1.; ",
"cross_references": "MeSH; D016110.",
"definition": "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS1D is an autosomal recessive form characterized by blistering beginning at birth or early childhood. In some patients hands and feet are primarily affected, and in others blistering anywhere on the body may occur. In some patients the condition improves with age. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa simplex 2A, generalized severe.",
"acronym": "EBS2A.",
"accession": "DI-06251",
"synonyms": "Epidermolysis bullosa simplex 2a, Dowling-Meara type.; ",
"cross_references": "MeSH; D016110.",
"definition": "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2A is an autosomal dominant, severe form characterized by extensive intraepidermal blistering from the time of birth with herpetiform marginal spreading and central healing. Oral mucosal involvement, nail dystrophy, onychogryposis, formation of milia, and palmoplantar hyperkeratosis are common features. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa simplex 2B, generalized intermediate.",
"acronym": "EBS2B.",
"accession": "DI-06252",
"synonyms": "Epidermolysis bullosa simplex 2B, Koebner type.; ",
"cross_references": "MeSH; D016110.",
"definition": "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2B is an autosomal dominant form characterized by generalized blistering manifesting at birth. The tendency to blistering diminishes in adolescence, when it may become localized to hands and feet. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa simplex 2C, localized.",
"acronym": "EBS2C.",
"accession": "DI-06253",
"synonyms": "Epidermolysis bullosa simplex 2C, Weber-Cockayne type.; ",
"cross_references": "MeSH; D016110.",
"definition": "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2C is an autosomal dominant form with intraepidermal blistering mainly restricted to hands and feet beginning in infancy. Nails may be thick and dystrophic. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive.",
"acronym": "EBS2D.",
"accession": "DI-06254",
"synonyms": null,
"cross_references": "MeSH; D016110.",
"definition": "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2D is an autosomal recessive form characterized by widespread intraepidermal skin blistering and erosions from birth. Death may occur in the neonatal period. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa simplex 2E, with migratory circinate erythema.",
"acronym": "EBS2E.",
"accession": "DI-00466",
"synonyms": "Epidermolysis bullosa simplex, with migratory circinate erythema.; ",
"cross_references": "MeSH; D016110.",
"definition": "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2E is an autosomal dominant form in which multiple vesicles are present from birth onward and acquire over time a typical migratory circinate pattern on an erythematous background. Postinflammatory hyperpigmentation develops gradually and may have a mottled pattern. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa simplex 2F, with mottled pigmentation.",
"acronym": "EBS2F.",
"accession": "DI-00467",
"synonyms": "EBSMP.; Epidermolysis bullosa simplex, with mottled pigmentation.; Speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering.; ",
"cross_references": "MeSH; D016110.",
"definition": "A form of epidermolysis bullosa simplex, a group of skin fragility disorders characterized by skin blistering due to cleavage within the basal layer of keratinocytes, and erosions caused by minor mechanical trauma. There is a broad spectrum of clinical severity ranging from minor blistering on the feet, to subtypes with extracutaneous involvement and a lethal outcome. EBS2F is an autosomal dominant form characterized by generalized skin blistering of intermediate severity beginning at birth, with mottled or reticulate pigmentation developing gradually. Focal keratoses of palms and soles and dystrophic, thickened nails develop over time. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency.",
"acronym": "EBS3.",
"accession": "DI-03906",
"synonyms": "EBSB2.; Epidermolysis bullosa simplex, autosomal recessive 2.; ",
"cross_references": "MeSH; D016110.",
"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. EBS3 is an autosomal recessive disorder characterized by skin blistering mainly occurring on the feet and ankles. Ultrastructural analysis of skin biopsy shows abnormal hemidesmosomes with poorly formed inner plaques. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive.",
"acronym": "EBS4.",
"accession": "DI-03676",
"synonyms": null,
"cross_references": "MeSH; D004820.",
"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. EBS4 is an autosomal recessive disorder characterized by mild skin fragility with onset at birth or in early childhood, associated with acral blistering with hemorrhagic crusts. Skin fragility improves with age in most patients, although mottled pigmentation may later develop on the trunk and proximal limbs. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa simplex 5A, Ogna type.",
"acronym": "EBS5A.",
"accession": "DI-00464",
"synonyms": "EBS1.; EBSO.; Epidermolysis bullosa simplex, Ogna type.; Epidermolysis bullosa simplex 1.; O-EBS.; ",
"cross_references": "MeSH; D016110.",
"definition": "An autosomal dominant form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. EBS5A patients manifest generalized skin bruising, skin fragility with non-scarring blistering and small hemorrhagic blisters on hands. At the ultrastructural level, EBS5A is differentiated from classical epidermolysis bullosa simplex, by the occurrence of blisters originating in basal cells above hemidesmosomes, and abnormal hemidesmosome intracellular attachment plates. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa simplex 5B, with muscular dystrophy.",
"acronym": "EBS5B.",
"accession": "DI-00468",
"synonyms": "EBSMD.; Epidermolysis bullosa simplex and limb-girdle muscular dystrophy.; Epidermolysis bullosa simplex with muscular dystrophy.; MD-EBS.; ",
"cross_references": "MeSH; D049288.",
"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. EBS5B is an autosomal recessive disorder characterized by progressive muscular dystrophy associated with generalized skin blistering. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Epidermolysis bullosa simplex 5C, with pyloric atresia.",
"acronym": "EBS5C.",
"accession": "DI-01532",
"synonyms": "Epidermolysis bullosa simplex with pyloric atresia.; ",
"cross_references": "MeSH; D004820.",
"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. EBS5C is an autosomal recessive disorder characterized by severe skin blistering at birth and congenital pyloric atresia. Death usually occurs in infancy. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
}
]
}