HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2820&ordering=identifier",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2780&ordering=identifier",
"results": [
{
"identifier": "Hypercholesterolemia, familial, 2.",
"acronym": "FHCL2.",
"accession": "DI-01591",
"synonyms": "Familial ligand-defective apolipoprotein B-100.; FDB.; ",
"cross_references": "MeSH; D006938.",
"definition": "A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL2 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Hypercholesterolemia, familial, 3.",
"acronym": "FHCL3.",
"accession": "DI-01578",
"synonyms": "HCHOLA3.; Hypercholesterolemia, autosomal dominant, 3.; ",
"cross_references": "MeSH; D006937.",
"definition": "A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL3 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Hypercholesterolemia, familial, 4.",
"acronym": "FHCL4.",
"accession": "DI-01242",
"synonyms": "ARH.; ARH1.; ARH2.; Autosomal recessive hypercholesterolemia 1.; Autosomal recessive hypercholesterolemia 2.; FHCB1.; FHCB2.; Hypercholesterolemia, autosomal recessive.; ",
"cross_references": "MeSH; D006937.",
"definition": "A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL4 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "HyperCKmia.",
"acronym": "HYPCK.",
"accession": "DI-01766",
"synonyms": null,
"cross_references": "MedGen; C0241005.",
"definition": "Characterized by persistent elevated levels of serum creatine kinase without muscle weakness. ",
"keywords": null
},
{
"identifier": "Hyperekplexia 1.",
"acronym": "HKPX1.",
"accession": "DI-01087",
"synonyms": "Congenital stiff-man syndrome.; Congenital stiff-person syndrome.; Exaggerated startle reaction.; Familial startle disease.; Hereditary hyperexplexia 1.; Hyperekplexia hereditary 1 autosomal dominant or recessive.; Kok disease.; STHE.; Stiff-baby syndrome.; ",
"cross_references": "MeSH; D000071017.",
"definition": "A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. ",
"keywords": null
},
{
"identifier": "Hyperekplexia 2.",
"acronym": "HKPX2.",
"accession": "DI-03457",
"synonyms": "Autosomal recessive hyperekplexia 2.; ",
"cross_references": "MeSH; D000071017.",
"definition": "A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli. ",
"keywords": null
},
{
"identifier": "Hyperekplexia 3.",
"acronym": "HKPX3.",
"accession": "DI-03456",
"synonyms": null,
"cross_references": "MeSH; D000071017.",
"definition": "A neurologic disorder characterized by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life- threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved in the first year of life. ",
"keywords": null
},
{
"identifier": "Hyperekplexia 4.",
"acronym": "HKPX4.",
"accession": "DI-05272",
"synonyms": null,
"cross_references": "MeSH; D000071017.",
"definition": "An autosomal recessive severe neurologic disorder apparent from birth. HKPX4 is characterized by little if any development, hypertonia, early-onset refractory seizures in some patients, and respiratory failure resulting in early death, mostly in the first months of life. ",
"keywords": null
},
{
"identifier": "Hyperemesis gravidarum.",
"acronym": "HG.",
"accession": "DI-06832",
"synonyms": null,
"cross_references": "MeSH; D006939.",
"definition": "An autosomal dominant condition characterized by severe nausea and vomiting in pregnancy. It occurs in up to 2% of pregnancies and leads to significant weight loss, dehydration, electrolyte imbalance, and ketonuria. It is associated with both maternal and fetal morbidity. ",
"keywords": null
},
{
"identifier": "Hyperferritinemia.",
"acronym": "HRFT.",
"accession": "DI-06851",
"synonyms": null,
"cross_references": "MeSH; D000085583.",
"definition": "An autosomal recessive condition characterized by increased serum ferritin levels in the absence of iron overload or other clinical symptoms. ",
"keywords": null
},
{
"identifier": "Hyperferritinemia with or without cataract.",
"acronym": "HRFTC.",
"accession": "DI-01718",
"synonyms": "HHCS.; Hyperferritinemia, hereditary, with congenital cataracts.; Hyperferritinemia-cataract syndrome.; ",
"cross_references": "MeSH; D019189.",
"definition": "An autosomal dominant disease characterized by elevated level of ferritin in serum and tissues, and early-onset bilateral cataract. Cataracts may be subclinical in some patients. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Hyperglycinemia, lactic acidosis, and seizures.",
"acronym": "HGCLAS.",
"accession": "DI-03379",
"synonyms": "PDHLD.; Pyruvate dehydrogenase lipoic acid synthetase deficiency.; ",
"cross_references": "MeSH; D008661.",
"definition": "An enzymatic defect resulting in an autosomal recessive disorder of mitochondrial metabolism. It is characterized by early-onset lactic acidosis, severe encephalomyopathy, and a pyruvate oxidation defect. Affected individuals have neonatal-onset epilepsy, poor growth, psychomotor retardation, muscular hypotonia, lactic acidosis, and elevated glycine concentration in plasma and urine. ",
"keywords": null
},
{
"identifier": "Hyperglycinuria.",
"acronym": "HGLY.",
"accession": "DI-02939",
"synonyms": "Glycinuria with or without oxalate nephrolithiasis.; Glycinuria with or without oxalate urolithiasis.; Iminoglycinuria type II.; ",
"cross_references": "MeSH; D000608.",
"definition": "A condition characterized by excess of glycine in the urine. In some cases it is associated with renal colic and renal oxalate stones. ",
"keywords": null
},
{
"identifier": "Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections.",
"acronym": "HIES1.",
"accession": "DI-01767",
"synonyms": "Buckley syndrome.; HIES autosomal dominant.; Hyper-IgE recurrent infection syndrome 1, autosomal dominant.; Hyper-IgE recurrent infection syndrome autosomal dominant.; Hyper-IgE syndrome autosomal dominant.; Hyperimmunoglobulin E syndrome type 1.; Job syndrome.; ",
"cross_references": "MeSH; D007589.",
"definition": "A rare disorder of immunity and connective tissue characterized by immunodeficiency, chronic eosinophilia, distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures. ",
"keywords": null
},
{
"identifier": "Hyper-IgE syndrome 2, autosomal recessive, with recurrent infections.",
"acronym": "HIES2.",
"accession": "DI-02809",
"synonyms": "HIES autosomal recessive.; Hyper-IgE recurrent infection syndrome 2, autosomal recessive.; Hyper-IgE recurrent infection syndrome autosomal recessive.; Hyper-IgE syndrome autosomal recessive.; Hyperimmunoglobulin E syndrome type 2.; Nonskeletal hyper IgE syndrome.; ",
"cross_references": "MeSH; D007589.",
"definition": "A rare disorder characterized by immunodeficiency, recurrent infections, eczema, increased serum IgE, eosinophilia and lack of connective tissue and skeletal involvement. ",
"keywords": null
},
{
"identifier": "Hyper-IgE syndrome 3, autosomal recessive, with recurrent infections.",
"acronym": "HIES3.",
"accession": "DI-05462",
"synonyms": "Hyper-IgE recurrent infection syndrome 3, autosomal recessive.; ",
"cross_references": "MeSH; D007589.",
"definition": "An immunologic disorder characterized by skin bacterial infections in particular with Staphylococcus aureus, susceptibility to fungal infections such as chronic mucocutaneous candidiasis, atopic dermatitis, recurrent respiratory infections, bronchiectasis, and increased serum IgE and IgG. Immunologic work-up shows impaired differentiation of CD4+ T cells into T-helper 17 cells, decreased memory B cells, and often decreased NK cells. Some patients manifest extrahemapoietic features, including facial dysmorphism, abnormal dentition, alopecia, joint hypermobility and bone fractures. Disease onset is in early childhood. ",
"keywords": null
},
{
"identifier": "Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections.",
"acronym": "HIES4A.",
"accession": "DI-06348",
"synonyms": "Hyper-IgE recurrent infection syndrome 4A, autosomal dominant.; ",
"cross_references": "MeSH; D007589.",
"definition": "An immunologic disorder characterized by recurrent mainly sino- pulmonary infections associated with increased serum IgE. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high- arched palate, hyperextensible joints, scoliosis, and bone fractures. ",
"keywords": null
},
{
"identifier": "Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections.",
"acronym": "HIES4B.",
"accession": "DI-05628",
"synonyms": "Hyper-IgE recurrent infection syndrome 4B, autosomal recessive.; ",
"cross_references": "MeSH; D007589.",
"definition": "An immunologic disorder characterized by recurrent infections, mainly affecting the respiratory tract, skin and eye, and skeletal abnormalities including craniosynostosis and scoliosis. Immunologic workup shows increased serum IgE, intermittent eosinophilia, impaired development of certain B- and T-cell populations, as well as impaired acute-phase response. Disease onset is in early childhood. ",
"keywords": null
},
{
"identifier": "Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections.",
"acronym": "HIES5.",
"accession": "DI-05873",
"synonyms": "Hyper-IgE recurrent infection syndrome 5, autosomal recessive.; ",
"cross_references": "MeSH; D007589.",
"definition": "An immunologic disorder characterized by recurrent sinopulmonary and deep skin infections, mostly caused by bacteria, including H. influenza and Staphylococcus aureus. Additional features include asthma, atopic dermatitis, and impaired inflammatory responses during infection. Disease onset is in early infancy. ",
"keywords": null
},
{
"identifier": "Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections.",
"acronym": "HIES6.",
"accession": "DI-06771",
"synonyms": null,
"cross_references": "MeSH; D007589.",
"definition": "An immunologic disorder characterized by severe allergic disease with onset in infancy. Common features are treatment-resistant atopic dermatitis, food allergies, asthma, eosinophilic gastrointestinal disease, and severe episodes of anaphylaxis. Half of the patients present with recurrent skin, respiratory, and viral infections. Clinical laboratory testing is notable for eosinophilia and markedly elevated serum IgE levels. ",
"keywords": null
}
]
}