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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5120&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5080&ordering=synonyms",
"results": [
{
"identifier": "Enhanced S cone syndrome.",
"acronym": "ESCS.",
"accession": "DI-01527",
"synonyms": null,
"cross_references": "MedGen; C1849394.",
"definition": "Autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. ESCS is also associated with visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration. ",
"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": "Cardiomyopathy, dilated, 1GG.",
"acronym": "CMD1GG.",
"accession": "DI-02945",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1G.",
"acronym": "CMD1G.",
"accession": "DI-00215",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"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 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 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 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": "Epilepsy, nocturnal frontal lobe, 5.",
"acronym": "ENFL5.",
"accession": "DI-03663",
"synonyms": null,
"cross_references": "MeSH; D017034.",
"definition": "An autosomal dominant focal epilepsy syndrome characterized by childhood onset of clusters of motor seizures during sleep. Some patients may develop behavioral or psychiatric manifestations and/or intellectual disability. The phenotype is more severe than observed in other genetic forms of nocturnal frontal lobe epilepsy. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1FF.",
"acronym": "CMD1FF.",
"accession": "DI-02681",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"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": "Epilepsy, progressive myoclonic 9.",
"acronym": "EPM9.",
"accession": "DI-04510",
"synonyms": null,
"cross_references": "MeSH; D020191.",
"definition": "A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM9 is an autosomal recessive form characterized by myoclonus, tonic-clonic seizures, ataxia, and delayed psychomotor development. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0887:Epilepsy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1EE.",
"acronym": "CMD1EE.",
"accession": "DI-02682",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Epidermolytic hyperkeratosis 2A.",
"acronym": "EHK2A.",
"accession": "DI-06671",
"synonyms": null,
"cross_references": "MeSH; D017488.",
"definition": "An autosomal dominant form of epidermolytic hyperkeratosis, a skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. EHK2 inheritance is autosomal dominant or autosomal recessive. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Epidermolytic hyperkeratosis 2B, autosomal recessive.",
"acronym": "EHK2B.",
"accession": "DI-06837",
"synonyms": null,
"cross_references": "MeSH; D017488.",
"definition": "An autosomal recessive form of epidermolytic hyperkeratosis, a skin disorder characterized by widespread blistering and an ichthyotic erythroderma at birth that persist into adulthood. Histologically there is a diffuse epidermolytic degeneration in the lower spinous layer of the epidermis. Within a few weeks from birth, erythroderma and blister formation diminish and hyperkeratoses develop. ",
"keywords": "KW-0977:Ichthyosis.; "
}
]
}