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"count": 6723,
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{
"identifier": "Identifier Once; starts an entry",
"acronym": "Acronym Once",
"accession": "Accession (DI-xxxxx) Once",
"synonyms": "Alternative name(s) Optional; once or more; ",
"cross_references": "Cross-reference(s) Once or more",
"definition": "Definition Once or more ",
"keywords": "Associated keyword (accession) Optional; Once or more; "
},
{
"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 1, with or without Bresheck syndrome.",
"acronym": "IFAP1.",
"accession": "DI-02540",
"synonyms": "Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia.; Ichthyosis follicularis-atrichia-photophobia syndrome.; ",
"cross_references": "MeSH; D020795.",
"definition": "An X-linked syndrome characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. Histopathologically, the epidermal granular layer is generally well-preserved or thickened at the infundibulum. Hair follicles are poorly developed and tend to be surrounded by an inflammatory infiltrate. A subgroup of patients is described with lamellar rather than follicular ichthyosis. Non-consistent features may include growth and psychomotor retardation, aganglionic megacolon, seizures and nail dystrophy. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"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.; "
},
{
"identifier": "IgA nephropathy.",
"acronym": "IgAN.",
"accession": "DI-01809",
"synonyms": null,
"cross_references": "MedGen; C3160719.",
"definition": "Most common primary glomerulonephritis, which is partly due to aberrant or incomplete galactosylation of IgA1 molecules. ",
"keywords": null
},
{
"identifier": "IgA nephropathy 3.",
"acronym": "IGAN3.",
"accession": "DI-04653",
"synonyms": null,
"cross_references": "MeSH; D005922.",
"definition": "A form of IgA nephropathy, a common primary glomerulonephritis characterized by glomerular sclerosis, interstitial fibrosis, and mesangial glomerular deposits of immunoglobulin A and immunoglobulin G visible on renal biopsies. IgA nephropathy is associated with renal insufficiency that can progress to end-stage renal disease. Proteinuria and hematuria are characteristic clinical presentations. ",
"keywords": null
},
{
"identifier": "Imagawa-Matsumoto syndrome.",
"acronym": "IMMAS.",
"accession": "DI-05768",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal dominant syndrome characterized by generalized overgrowth, dysmorphic features, musculoskeletal abnormalities, developmental delay and intellectual disability. Some patients have genitourinary and structural brain abnormalities. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Imerslund-Grasbeck syndrome 1.",
"acronym": "IGS1.",
"accession": "DI-02246",
"synonyms": "Defect of enterocyte intrinsic factor receptor.; Enterocyte cobalamin malabsorption.; Megaloblastic anemia, Finnish type.; Megaloblastic anemia 1.; MGA1.; Pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin B12, with proteinuria.; ",
"cross_references": "MeSH; D000749.",
"definition": "A form of Imerslund-Grasbeck syndrome, a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in infancy or early childhood. Clinical manifestations include failure to thrive, infections and neurological damage. Mild proteinuria, with no signs of kidney disease, is present in about half of the patients. ",
"keywords": null
},
{
"identifier": "Imerslund-Grasbeck syndrome 2.",
"acronym": "IGS2.",
"accession": "DI-05840",
"synonyms": "Megaloblastic anemia, Norwegian type.; ",
"cross_references": "MeSH; D000749.",
"definition": "A form of Imerslund-Grasbeck syndrome, a rare autosomal recessive disorder characterized by vitamin B12 deficiency commonly resulting in megaloblastic anemia, which is responsive to parenteral vitamin B12 therapy and appears in infancy or early childhood. Clinical manifestations include failure to thrive, infections and neurological damage. Mild proteinuria, with no signs of kidney disease, is present in about half of the patients. ",
"keywords": null
},
{
"identifier": "Iminoglycinuria.",
"acronym": "IG.",
"accession": "DI-02940",
"synonyms": null,
"cross_references": "MeSH; D000608.",
"definition": "A disorder of renal tubular reabsorption of glycine and imino acids (proline and hydroxyproline), marked by excessive levels of all three substances in the urine. ",
"keywords": null
},
{
"identifier": "Immune dysregulation and systemic hyperinflammation syndrome.",
"acronym": "IMDYSHI.",
"accession": "DI-05904",
"synonyms": "FHL6.; Hemophagocytic lymphohistiocytosis, familial, 6.; ",
"cross_references": "MeSH; D051359.",
"definition": "An autosomal recessive disorder characterized by systemic hyperinflammation in the absence of an infectious agent or autoimmune trigger. Features include lymphadenopathy, hepatosplenomegaly, recurrent fever, and laboratory evidence of immune dysregulation with abnormal immune cell populations and increased serum levels of inflammatory cytokines. ",
"keywords": null
},
{
"identifier": "Immune dysregulation, autoimmunity, and autoinflammation.",
"acronym": "IDAA.",
"accession": "DI-06764",
"synonyms": null,
"cross_references": "MeSH; D007154.",
"definition": "An autosomal dominant disorder characterized by anemia and thrombocytopenia associated with circulating autoantibodies, positive Coombs test, immune dysregulation, and increased levels of proinflammatory cytokines. ",
"keywords": null
},
{
"identifier": "Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation.",
"acronym": "IDAIL.",
"accession": "DI-04302",
"synonyms": "ALPS5.; Autoimmune lymphoproliferative syndrome 5.; Autoimmune lymphoproliferative syndrome type V.; ",
"cross_references": "MeSH; D008232.",
"definition": "An autosomal dominant primary immunodeficiency characterized by severe autoimmunity, infiltration of non-lymphoid organs, such as the intestine, lungs and brain, by hyperactive T cells and B cells, autoimmune cytopenias, and hypogammaglobulinemia in early childhood. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 10.",
"acronym": "IMD10.",
"accession": "DI-02551",
"synonyms": "Immune dysfunction with T-cell inactivation due to calcium entry defect 2.; STIM1 deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, lymphadenopathy, and normal lymphocytes counts and serum immunoglobulin levels. Additional features include thrombocytopenia, autoimmune hemolytic anemia, myopathy, partial iris hypoplasia, hepatosplenomegaly and defective enamel dentition. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia.",
"acronym": "IMD100.",
"accession": "DI-06438",
"synonyms": "PAPHG.; Pulmonary alveolar proteinosis with hypogammaglobulinemia.; ",
"cross_references": "MeSH; D011649.",
"definition": "An autosomal dominant disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life. Disease development appears to be influenced or triggered by viral infection. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 101, varicella zoster virus-specific.",
"acronym": "IMD101.",
"accession": "DI-06422",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant immunologic disorder characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV. The viral reactivation manifests as central nervous system vasculitis with stroke-like episodes and lacunar infarcts on brain imaging. Features include headache, hemiparesis, impaired balance, and other neurologic signs. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 102.",
"acronym": "IMD102.",
"accession": "DI-06439",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An X-linked recessive disorder characterized by recurrent sinopulmonary, cutaneous and mucosal infections, and refractory autoimmune cytopenias that appear in early childhood. Affected individuals have bacterial, viral, and fungal infections, as well as hemolytic anemia, thrombocytopenia, lymphopenia, and decreased NK cells. The disorder may also manifest as a hyperinflammatory state with immune dysregulation. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 103, susceptibility to fungal infections.",
"acronym": "IMD103.",
"accession": "DI-02578",
"synonyms": "CANDF2.; Candidiasis, familial, 2.; CARD9 immunodeficiency.; Familial chronic mucocutaneous candidiasis autosomal recessive.; ",
"cross_references": "MeSH; D002178.",
"definition": "An autosomal recessive primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 104.",
"acronym": "IMD104.",
"accession": "DI-01018",
"synonyms": "SCIDBNK.; Severe combined immunodeficiency autosomal recessive T cell-negative/B cell-positive/NK cell-positive.; Severe combined immunodeficiency autosomal recessive T-cell negative/B-cell positive/NK-cell positive.; ",
"cross_references": "MeSH; D016511.",
"definition": "A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "Immunodeficiency 105.",
"acronym": "IMD105.",
"accession": "DI-06464",
"synonyms": "SCID, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive.; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by recurrent infections in early infancy, decreased or absent numbers of non-functional T cells, normal or increased levels of B cells, hypogammaglobulinemia, and normal or low NK cells. Clinical manifestations may include pneumonia, dermatitis, and lymphadenopathy. ",
"keywords": null
}
]
}