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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2600&ordering=-synonyms",
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"results": [
{
"identifier": "Hemolytic anemia due to adenylate kinase deficiency.",
"acronym": "HAAKD.",
"accession": "DI-01702",
"synonyms": null,
"cross_references": "MeSH; D000745.",
"definition": "A disease characterized by hemolytic anemia and undetectable erythrocyte adenylate kinase activity. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Macular dystrophy, retinal, 5.",
"acronym": "MCDR5.",
"accession": "DI-06652",
"synonyms": null,
"cross_references": "MeSH; D008268.",
"definition": "An autosomal recessive, late-onset form of of macular dystrophy, a group of inherited retinal disorders that cause significant visual loss, most often as a result of progressive macular atrophy. MCDR5 symptoms include reduced visual acuity, difficulty reading, photopsias in the central visual field, poor contrast vision, and metamorphopsia. Night blindness is uncommon. ",
"keywords": null
},
{
"identifier": "Bone marrow failure and diabetes mellitus syndrome.",
"acronym": "BMFDMS.",
"accession": "DI-06507",
"synonyms": null,
"cross_references": "MeSH; D003920.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFDMS is an autosomal recessive form characterized by various degrees of bone marrow failure, ranging from dyserythropoiesis to bone marrow aplasia, with onset in infancy or early childhood, and non-autoimmune insulin-dependent diabetes mellitus appearing in the first or second decades. Many patients show pigmentary skin abnormalities and short stature. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Inflammatory bowel disease 14.",
"acronym": "IBD14.",
"accession": "DI-02656",
"synonyms": null,
"cross_references": "MeSH; D015212.",
"definition": "A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 46.",
"acronym": "IMD46.",
"accession": "DI-04634",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency disorder characterized by early-onset chronic diarrhea, recurrent infections, hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, and intermittent thrombocytopenia. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 44.",
"acronym": "IMD44.",
"accession": "DI-04585",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by increased susceptibility to viral infection, resulting in some patients in encephalopathy and infection-associated neurologic decompensation. ",
"keywords": null
},
{
"identifier": "Complement factor I deficiency.",
"acronym": "CFI deficiency.",
"accession": "DI-01378",
"synonyms": null,
"cross_references": "MedGen; C3463916.",
"definition": "Autosomal recessive condition associated with a propensity to pyogenic infections. ",
"keywords": null
},
{
"identifier": "Glycosylphosphatidylinositol biosynthesis defect 17.",
"acronym": "GPIBD17.",
"accession": "DI-05271",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Clinical features include learning disabilities, mild-to-moderate developmental delay, seizures of variable severity, aggressive or over-friendly behavior, and autistic features. ",
"keywords": "KW-0887:Epilepsy.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Glycosylphosphatidylinositol biosynthesis defect 18.",
"acronym": "GPIBD18.",
"accession": "DI-05347",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder with onset in utero or early infancy and characterized by severe global developmental delay, seizures, hypotonia, weakness, ataxia, and dysmorphic facial features. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy.",
"acronym": "CHAPLE.",
"accession": "DI-05079",
"synonyms": null,
"cross_references": "MeSH; D013927.",
"definition": "An autosomal recessive disease characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, edema due to hypoproteinemia, malabsorption, and less frequently, bowel inflammation, recurrent infections, and angiopathic thromboembolic disease. Patients' T lymphocytes show increased complement activation causing surface deposition of complement and the generation of soluble C5a. ",
"keywords": null
},
{
"identifier": "Cone dystrophy 3.",
"acronym": "COD3.",
"accession": "DI-00317",
"synonyms": null,
"cross_references": "MeSH; D058499.",
"definition": "An autosomal dominant cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. ",
"keywords": null
},
{
"identifier": "Bone marrow failure syndrome 2.",
"acronym": "BMFS2.",
"accession": "DI-04043",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "An autosomal recessive disorder characterized by trilineage bone marrow failure, bone marrow hypocellularity, learning difficulties, and microcephaly. Insufficient hematopoiesis results in peripheral blood cytopenias, affecting myeloid, erythroid and megakaryocyte lines. Cutaneous features and increased chromosome breakage are not features. ",
"keywords": null
},
{
"identifier": "Cone dystrophy 4.",
"acronym": "COD4.",
"accession": "DI-02491",
"synonyms": null,
"cross_references": "MeSH; D058499.",
"definition": "An early-onset cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. ",
"keywords": null
},
{
"identifier": "Macular dystrophy with or without cone dysfunction.",
"acronym": "MDCD.",
"accession": "DI-06857",
"synonyms": null,
"cross_references": "MeSH; D008268.",
"definition": "A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. MDCD is a progressive, autosomal recessive form characterized by reduced visual acuity and macular atrophy involving the fovea. Some patients also exhibit mild generalized cone dysfunction. ",
"keywords": null
},
{
"identifier": "Bone marrow failure syndrome 3.",
"acronym": "BMFS3.",
"accession": "DI-04752",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS3 is characterized by pancytopenia with onset in early childhood. Some patients have additional variable non-specific features, including poor growth, microcephaly, and skin anomalies. BMFS3 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "GNAS hyperfunction.",
"acronym": "GNASHYP.",
"accession": "DI-01678",
"synonyms": null,
"cross_references": "MedGen; C1841727.",
"definition": "This condition is characterized by increased trauma-related bleeding tendency, prolonged bleeding time, brachydactyly and intellectual disability. Both the XLas isoforms and the ALEX protein are mutated which strongly reduces the interaction between them and this may allow unimpeded activation of the XLas isoforms. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects.",
"acronym": "IDDMDS.",
"accession": "DI-06485",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, intellectual disability, distal deformities with diminished reflexes, visible facial myokymia, and distinctive electromyographic features suggestive of motor nerve instability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Mitochondrial complex II deficiency, nuclear type 4.",
"acronym": "MC2DN4.",
"accession": "DI-06039",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A form of mitochondrial complex II deficiency, a disorder with heterogeneous clinical manifestations. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. MC2DN4 is a severe, autosomal recessive form characterized by early-onset progressive neurodegeneration with leukoencephalopathy. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Bone marrow failure syndrome 4.",
"acronym": "BMFS4.",
"accession": "DI-05333",
"synonyms": null,
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. BMFS4 is characterized by early-onset anemia, leukopenia, decreased B cells, and developmental aberrations including facial dysmorphism, mild skeletal anomalies, and neurodevelopmental delay. BMFS4 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Renal tubular acidosis, distal, with normal red cell morphology.",
"acronym": "dRTA-NRC.",
"accession": "DI-03438",
"synonyms": null,
"cross_references": "MeSH; D000141.",
"definition": "A disease characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. It is due to functional failure of alpha-intercalated cells of the cortical collecting duct of the distal nephron, where vectorial proton transport is required for urinary acidification. ",
"keywords": null
}
]
}