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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2960&ordering=-synonyms",
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"results": [
{
"identifier": "Corneal dystrophy, Fuchs endothelial, 8.",
"acronym": "FECD8.",
"accession": "DI-03947",
"synonyms": null,
"cross_references": "MeSH; D005642.",
"definition": "A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Maculopathy, IMPG2-related.",
"acronym": "MACLP-IMPG2.",
"accession": "DI-02910",
"synonyms": null,
"cross_references": "MeSH; D008268.",
"definition": "A mild maculopathy characterized by full-field electroretinogram responses within normal limits, normal color vision, elevation of the photoreceptor layer in the foveal region and mild nuclear sclerosis. ",
"keywords": null
},
{
"identifier": "Cortical dysplasia-focal epilepsy syndrome.",
"acronym": "CDFES.",
"accession": "DI-00381",
"synonyms": null,
"cross_references": "MeSH; D054220.",
"definition": "A disease characterized by cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures begin in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and intellectual disability develop. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Multiple sclerosis.",
"acronym": "MS.",
"accession": "DI-02604",
"synonyms": null,
"cross_references": "MeSH; D009103.",
"definition": "A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. ",
"keywords": null
},
{
"identifier": "Hypomagnesemia 6.",
"acronym": "HOMG6.",
"accession": "DI-03071",
"synonyms": null,
"cross_references": "MeSH; D015499.",
"definition": "A renal disease characterized by severely lowered serum magnesium levels in the absence of other electrolyte disturbances. Affected individuals show an inappropriately normal urinary magnesium excretion, demonstrating a defect in tubular reabsorption. Age of clinical onset is highly variable and some affected individuals are asymptomatic. ",
"keywords": "KW-0982:Primary hypomagnesemia.; "
},
{
"identifier": "Hypomagnesemia 7, renal, with or without dilated cardiomyopathy.",
"acronym": "HOMG7.",
"accession": "DI-06559",
"synonyms": null,
"cross_references": "MeSH; D015499.",
"definition": "An autosomal dominant renal disease characterized by hypomagnesemia, hypokalemia, salt wasting, and nephrocalcinosis. A subset of patients develop severe dilated cardiomyopathy. ",
"keywords": "KW-0122:Cardiomyopathy.; KW-0982:Primary hypomagnesemia.; "
},
{
"identifier": "Hypoparathyroidism, familial isolated, 2.",
"acronym": "FIH2.",
"accession": "DI-05841",
"synonyms": null,
"cross_references": "MeSH; D007011.",
"definition": "An autosomal recessive form of hypoparathyroidism, a disorder characterized by hypocalcemia and hyperphosphatemia due to a deficiency of parathyroid hormone. Clinical features include seizures, tetany and cramps. ",
"keywords": null
},
{
"identifier": "Arterial calcification of infancy, generalized, 2.",
"acronym": "GACI2.",
"accession": "DI-03382",
"synonyms": null,
"cross_references": "MeSH; D061205.",
"definition": "A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure. ",
"keywords": null
},
{
"identifier": "Inflammatory demyelinating polyneuropathy.",
"acronym": "IDP.",
"accession": "DI-01824",
"synonyms": null,
"cross_references": "MedGen; C1841700.",
"definition": "Putative autoimmune disorder presenting in an acute (AIDP) or chronic form (CIDP). The acute form is also known as Guillain-Barre syndrome. ",
"keywords": null
},
{
"identifier": "Hypophosphatasia, childhood.",
"acronym": "HPPC.",
"accession": "DI-03098",
"synonyms": null,
"cross_references": "MeSH; D007014.",
"definition": "A bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. ",
"keywords": null
},
{
"identifier": "Hypophosphatasia, infantile.",
"acronym": "HPPI.",
"accession": "DI-03099",
"synonyms": null,
"cross_references": "MeSH; D007014.",
"definition": "A severe bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Three more or less distinct types of infantile hypophosphatasia can be identified: (1) type 1 with onset in utero or in early postnatal life, craniostenosis, severe skeletal abnormalities, hypercalcemia, and death in the first year or so of life; (2) type 2 with later, more gradual development of symptoms, moderately severe 'rachitic' skeletal changes and premature loss of teeth; (3) type 3 with no symptoms, the condition being determined on routine studies. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder with paroxysmal dyskinesia or seizures.",
"acronym": "IDDPADS.",
"accession": "DI-06007",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, language delay, and early- onset paroxysmal hyperkinetic movement disorder that manifests as sudden falls or backward propulsion, eye or head deviation, and dystonic limb posturing followed by chorea and dyskinetic movements. Some patients may also develop epileptic seizures or only have seizures without a movement disorder. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Immunodeficiency, common variable, 15.",
"acronym": "CVID15.",
"accession": "DI-06822",
"synonyms": null,
"cross_references": "MeSH; D017074.",
"definition": "An autosomal dominant immunologic disorder resulting in recurrent severe infections since early childhood or infancy, and characterized by hypogammaglobulinemia with antibody deficiencies of IgM, IgG, and IgA due to impaired plasma cell homeostasis, although other B cell subset numbers are normal. T and NK cells are also normal. CVID15 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Neurodevelopmental disorder with hypotonia and gross motor and speech delay.",
"acronym": "NEDHMS.",
"accession": "DI-06284",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive disorder characterized by severe global developmental delay apparent from infancy, axial hypotonia, limited or absent ability to walk, impaired intellectual development, and poor or absent speech. Additional features may include seizures, behavioral problems, distal skeletal anomalies, and facial dysmorphism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cardiac valvular dysplasia 2.",
"acronym": "CVDP2.",
"accession": "DI-06519",
"synonyms": null,
"cross_references": "MeSH; D006349.",
"definition": "An autosomal recessive form of congenital heart defects, characterized primarily by congenital stenosis and insufficiency of the semilunar valves, although mild insufficiency of the atrioventricular valves has been observed as well. Other features include subaortic stenosis and dilation of the ascending aorta and/or pulmonary artery in some patients. ",
"keywords": null
},
{
"identifier": "Hypophosphatemic rickets, X-linked recessive.",
"acronym": "XLHRR.",
"accession": "DI-00574",
"synonyms": null,
"cross_references": "MeSH; D053098.",
"definition": "A renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. XLHRR patients present with rickets or osteomalacia, hypophosphatemia due to decreased renal tubular phosphate reabsorption, hypercalciuria, and low molecular weight proteinuria. Patients develop nephrocalcinosis with progressive renal failure in adulthood. Female carriers may have asymptomatic hypercalciuria or hypophosphatemia only. ",
"keywords": null
},
{
"identifier": "Hypopigmentation, organomegaly, and delayed myelination and development.",
"acronym": "HOD.",
"accession": "DI-05637",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant pleiotropic syndrome characterized by skin and hair hypopigmentation, growth and developmental delay, organomegaly including enlarged liver, spleen and kidneys, delayed brain myelination and developmental deficit in motor skills. Skin and liver biopsies show cellular accumulation of large intracellular vacuoles. ",
"keywords": null
},
{
"identifier": "Corneal dystrophy, Meesmann 2.",
"acronym": "MECD2.",
"accession": "DI-05754",
"synonyms": null,
"cross_references": "MeSH; D053559.",
"definition": "A form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris- laden intraepithelial cysts. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. MECD2 inheritance is autosomal dominant. ",
"keywords": "KW-1212:Corneal dystrophy.; "
},
{
"identifier": "Hypoplastic femurs and pelvis.",
"acronym": "HYPOFP.",
"accession": "DI-06232",
"synonyms": null,
"cross_references": "MeSH; D001848.",
"definition": "An autosomal dominant disorder characterized by isolated bilateral hypoplasia of the femoral and pelvic bones. ",
"keywords": null
},
{
"identifier": "Spermatogenic failure, X-linked, 8.",
"acronym": "SPGFX8.",
"accession": "DI-06893",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "A male infertility disorder characterized by a significant reduction in progressive sperm motility, and aberrant sperm morphology. Patient sperm show head and midpiece defects with deformed and detached acrosomes, and flagellar defects. ",
"keywords": null
}
]
}