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"count": 6723,
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"results": [
{
"identifier": "Ichthyosis, congenital, autosomal recessive 2.",
"acronym": "ARCI2.",
"accession": "DI-00822",
"synonyms": "CIE.; Ichthyosiform erythroderma, congenital.; Ichthyosiform erythroderma Brocq congenital non-bullous form.; IECN1.; NCIE1.; Non-bullous congenital ichthyosiform erythroderma type 1.; Self-healing collodion baby.; ",
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 3.",
"acronym": "ARCI3.",
"accession": "DI-03670",
"synonyms": "Lamellar ichthyosis 5.; LI5.; Self-healing collodion baby.; ",
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 4A.",
"acronym": "ARCI4A.",
"accession": "DI-00588",
"synonyms": "Ichthyosis congenita IIB.; ICR2B.; Lamellar ichthyosis 2.; LI2.; ",
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 4B.",
"acronym": "ARCI4B.",
"accession": "DI-00584",
"synonyms": "Harlequin fetus.; Harlequin ichthyosis.; HI.; Ichthyosis congenita harlequin fetus type.; ",
"cross_references": "MeSH; D017490.",
"definition": "A rare, very severe form of congenital ichthyosis, in which the neonate is born with a thick covering of armor-like scales. The skin dries out to form hard diamond-shaped plaques separated by fissures, resembling 'armor plating'. The normal facial features are severely affected, with distortion of the lips (eclabion), eyelids (ectropion), ears, and nostrils. Affected babies are often born prematurely and rarely survive the perinatal period. Babies who survive into infancy and beyond develop skin changes resembling severe non-bullous congenital ichthyosiform erythroderma. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 5.",
"acronym": "ARCI5.",
"accession": "DI-00589",
"synonyms": "Ichthyosis congenita III.; Lamellar ichthyosis 3.; LI3.; NNCI.; Non-lamellar and non-erythrodermic congenital autosomal recessive ichthyosis.; ",
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 6.",
"acronym": "ARCI6.",
"accession": "DI-00583",
"synonyms": "Ichthyosis, congenital, autosomal recessive, ichthyin-related.; Ichthyosis, congenital, autosomal recessive, NIPAL4-related.; Ichthyosis congenital autosomal recessive.; ",
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 8.",
"acronym": "ARCI8.",
"accession": "DI-03085",
"synonyms": "Lamellar ichthyosis 4.; Late-onset lamellar ichthyosis.; LI4.; ",
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 9.",
"acronym": "ARCI9.",
"accession": "DI-03828",
"synonyms": null,
"cross_references": "MeSH; D017490.",
"definition": "A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis histrix, Lambert type.",
"acronym": "IHL.",
"accession": "DI-06555",
"synonyms": "Ichthyosis hystrix gravior.; Porcupine man.; ",
"cross_references": "MeSH; D007057.",
"definition": "An autosomal dominant form of ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling. IHL is characterized by normal skin at birth that develops striking spiny hyperkeratotic lesions within a few months. There is sparing of the face, palms, and soles, and affected individuals do not experience blistering. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis hystrix, Curth-Macklin type.",
"acronym": "IHCM.",
"accession": "DI-00585",
"synonyms": null,
"cross_references": "MeSH; D007057.",
"definition": "A genodermatosis with severe verrucous hyperkeratosis. Affected individuals manifest congenital verrucous black scale on the scalp, neck, and limbs with truncal erythema, palmoplantar keratoderma and keratoses on the lips, ears, nipples and buttocks. ",
"keywords": "KW-0977:Ichthyosis.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Ichthyosis hystrix-like with deafness syndrome.",
"acronym": "HID syndrome.",
"accession": "DI-00586",
"synonyms": null,
"cross_references": "MeSH; D007057.",
"definition": "An autosomal dominant keratinizing disorder characterized by sensorineural deafness and spiky hyperkeratosis affecting the entire skin. HID syndrome is considered to differ from the similar KID syndrome in the extent and time of occurrence of skin symptoms and the severity of the associated keratitis. ",
"keywords": "KW-0209:Deafness.; KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis, lamellar, autosomal dominant.",
"acronym": "ADLI.",
"accession": "DI-05901",
"synonyms": "Lamellar ichthyosis, autosomal dominant.; ",
"cross_references": "MeSH; D007057.",
"definition": "An autosomal dominant form of ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling. ADLI is characterized by onset at birth or within the first months of life, skin scaling on the entire body with relative sparing of face, anterior chest, and abdomen, and palmoplantar keratoderma. Patients may manifest mild erythema and moderate pruritus. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis prematurity syndrome.",
"acronym": "IPS.",
"accession": "DI-02593",
"synonyms": "Ichthyosis congenita IV.; ",
"cross_references": "MeSH; D007057.",
"definition": "A keratinization disorder characterized by complications in the second trimester of pregnancy resulting from polyhydramnion, with premature birth of a child with thick caseous desquamating epidermis, respiratory complications and transient eosinophilia. After recovery during the first months of life, the symptoms are relatively benign and the patients suffer from a lifelong non-scaly ichthyosis with atopic manifestations. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis-sclerosing cholangitis neonatal syndrome.",
"acronym": "NISCH.",
"accession": "DI-00590",
"synonyms": "Ichthyosis with leukocyte vacuoles, alopecia and sclerosing cholangitis.; ILVASC.; NISCH syndrome.; ",
"cross_references": "MeSH; D007057.",
"definition": "A rare autosomal recessive complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, mild diffuse ichthyosis, sclerosing cholangitis and leukocyte vacuolization. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis, spastic quadriplegia, and impaired intellectual development.",
"acronym": "ISQMR.",
"accession": "DI-03376",
"synonyms": null,
"cross_references": "MeSH; D010264.",
"definition": "A severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. ",
"keywords": "KW-0977:Ichthyosis.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Ichthyosis vulgaris.",
"acronym": "VI.",
"accession": "DI-00591",
"synonyms": "Ichthyosis simplex.; ",
"cross_references": "MeSH; D016112.",
"definition": "The most common form of ichthyosis inherited as an autosomal dominant trait. It is characterized by palmar hyperlinearity, keratosis pilaris and a fine scale that is most prominent over the lower abdomen, arms, and legs. Ichthyosis vulgaris is characterized histologically by absent or reduced keratohyalin granules in the epidermis and mild hyperkeratosis. The disease can be associated with frequent asthma, eczema or hay fever. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis with confetti.",
"acronym": "IWC.",
"accession": "DI-02981",
"synonyms": "Aarau disease.; CRIE.; Erythroderma, ichthyosiform, congenital reticular.; Ichthyosis variegata.; Reticular erythrokeratoderma.; ",
"cross_references": "MeSH; D016113.",
"definition": "An autosomal dominant, rare skin condition characterized by slowly enlarging islands of normal skin surrounded by erythematous ichthyotic patches in a reticulated pattern. The condition starts in infancy as a lamellar ichthyosis, with small islands of normal skin resembling confetti appearing in late childhood and at puberty. Histopathologic findings include band-like parakeratosis, psoriasiform acanthosis, and vacuolization of keratinocytes with binucleated cells in the upper epidermis, sometimes associated with amyloid deposition in the dermis. Ultrastructural abnormalities include perinuclear shells formed from a network of fine filaments in the upper epidermis. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis with erythrokeratoderma.",
"acronym": "IEKD.",
"accession": "DI-06761",
"synonyms": null,
"cross_references": "MeSH; D007057.",
"definition": "An autosomal dominant genodermatosis characterized by early-onset ichthyosiform erythroderma with excessive skin scaling and peeling, and erythematous hyperkeratotic plaques. Lesions are present at birth or appear soon after. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis, X-linked.",
"acronym": "IXL.",
"accession": "DI-00592",
"synonyms": "Placental steroid sulfatase deficiency.; Steroid sulfatase deficiency.; ",
"cross_references": "MeSH; D016114.",
"definition": "A keratinization disorder manifesting with mild erythroderma and generalized exfoliation of the skin within a few weeks after birth. Affected boys later develop large, polygonal, dark brown scales, especially on the neck, extremities, trunk, and buttocks. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies.",
"acronym": "IKSHD.",
"accession": "DI-05630",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "An autosomal dominant disease characterized by ichthyosis due to epidermal hyperproliferation and increased keratinisation, hypomyelination of the central white matter, spastic paraplegia, central nystagmus, optic atrophy, reduction of peripheral vision and visual acuity, and dysmorphic facial features. ",
"keywords": "KW-0977:Ichthyosis.; "
}
]
}