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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5600&ordering=synonyms",
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"results": [
{
"identifier": "Hypotrichosis and recurrent skin vesicles.",
"acronym": "HRSV.",
"accession": "DI-02555",
"synonyms": null,
"cross_references": "MeSH; D007039.",
"definition": "A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the body. Mucosal vesicles are absent. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Hypotrichosis-lymphedema-telangiectasia syndrome.",
"acronym": "HLTS.",
"accession": "DI-01804",
"synonyms": null,
"cross_references": "MeSH; D013684.",
"definition": "A syndrome characterized by absent eyebrows and eyelashes, lymphatic edemas of the inferior members or eyelids, and peripheral vein anomalies. ",
"keywords": "KW-1063:Hypotrichosis.; "
},
{
"identifier": "Autoinflammatory syndrome, familial, with or without immunodeficiency.",
"acronym": "AISIMD.",
"accession": "DI-06141",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant, autoinflammatory disorder with incomplete penetrance characterized by autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. Additional variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus. Immunodeficiency is present in some patients. Disease onset is usually in the first decades of life, although later onset has been reported. ",
"keywords": null
},
{
"identifier": "Hypouricemia renal 2.",
"acronym": "RHUC2.",
"accession": "DI-03137",
"synonyms": null,
"cross_references": "MeSH; D015499.",
"definition": "A disorder characterized by impaired uric acid reabsorption at the apical membrane of proximal renal tubule cells, and high urinary urate excretion. Patients often appear asymptomatic, but may be subject to exercise-induced acute renal failure, chronic renal dysfunction and nephrolithiasis. ",
"keywords": null
},
{
"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": "Autoinflammatory syndrome, familial, Behcet-like 1.",
"acronym": "AIFBL1.",
"accession": "DI-04635",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant, autoinflammatory disorder with early onset, characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas. Additional variable features include skin rash, uveitis, and polyarthritis. ",
"keywords": null
},
{
"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": "Autoinflammatory disease, systemic, X-linked.",
"acronym": "SAIDX.",
"accession": "DI-06411",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An X-linked disorder characterized by systemic autoinflammation appearing in the first months of life. Clinical manifestations are variable, including lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional features may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. ",
"keywords": null
},
{
"identifier": "Ichthyosis, annular epidermolytic, 2.",
"acronym": "AEI2.",
"accession": "DI-06539",
"synonyms": null,
"cross_references": "MeSH; D007057.",
"definition": "A form of annular epidermolytic ichthyosis, an autosomal dominant skin disorder characterized by polycyclic, migratory erythematous and scaly plaques. AEI2 patients manifest erythema and blistering of skin at birth that improves without scarring, as well as palmoplantar keratoderma. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Ichthyosis, congenital, autosomal recessive 10.",
"acronym": "ARCI10.",
"accession": "DI-03671",
"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, congenital, autosomal recessive 12.",
"acronym": "ARCI12.",
"accession": "DI-04921",
"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, congenital, autosomal recessive 13.",
"acronym": "ARCI13.",
"accession": "DI-05041",
"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, congenital, autosomal recessive 14.",
"acronym": "ARCI14.",
"accession": "DI-05040",
"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, 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, 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": "Intellectual developmental disorder, autosomal dominant 2.",
"acronym": "MRD2.",
"accession": "DI-03185",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"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.; "
},
{
"identifier": "Idiopathic scoliosis 3.",
"acronym": "IS3.",
"accession": "DI-02881",
"synonyms": null,
"cross_references": "MeSH; D012600.",
"definition": "An abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees. ",
"keywords": null
},
{
"identifier": "IFAP syndrome 2.",
"acronym": "IFAP2.",
"accession": "DI-05917",
"synonyms": null,
"cross_references": "MeSH; D020795.",
"definition": "An autosomal dominant form of IFAP syndrome, a disease characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. IFAP2 patients manifest ichthyosis follicularis or follicular hyperkeratosis, hyperkeratotic plaques, sparse to no body hair, and photophobia with punctate corneal epithelial defects, corneal pannus, and complicated cataract. Ultrastructural hair analysis shows trichorrhexis nodosa. ",
"keywords": "KW-0977:Ichthyosis.; "
}
]
}