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{
"identifier": "Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations.",
"acronym": "IEHDCM.",
"accession": "DI-03003",
"synonyms": null,
"cross_references": "MeSH; D007160.",
"definition": "A condition with biological features of autoimmune lymphoproliferative syndrome such as high-circulating CD4(-)CD8(-)TCR-alpha-beta(+) T-cell counts, and elevated IL10 and FASL levels. Affected individuals suffer from recurrent, stereotypical episodes of fever, encephalopathy, and mild liver dysfunction sometimes accompanied by generalized seizures. The episodes can be triggered by varicella zoster virus (VZV), measles mumps rubella (MMR) attenuated vaccine, parainfluenza virus, and Epstein-Barr virus (EBV). ",
"keywords": null
},
{
"identifier": "Inflammatory bowel disease 1.",
"acronym": "IBD1.",
"accession": "DI-01452",
"synonyms": "Crohn disease.; Crohn disease-associated growth failure.; Inflammatory bowel disease (Crohn disease) 1.; Regional enteritis.; Ulcerative colitis.; ",
"cross_references": "MeSH; D003424.",
"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": "Inflammatory bowel disease 10.",
"acronym": "IBD10.",
"accession": "DI-02658",
"synonyms": "Inflammatory bowel disease (Crohn disease) 10.; ",
"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": "Inflammatory bowel disease 13.",
"acronym": "IBD13.",
"accession": "DI-02657",
"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": "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": "Inflammatory bowel disease 17.",
"acronym": "IBD17.",
"accession": "DI-02655",
"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": "Inflammatory bowel disease 19.",
"acronym": "IBD19.",
"accession": "DI-03080",
"synonyms": "Inflammatory bowel disease (Crohn disease) 19.; ",
"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": "Inflammatory bowel disease 25, autosomal recessive.",
"acronym": "IBD25.",
"accession": "DI-02673",
"synonyms": "Early-onset autosomal recessive inflammatory bowel disease.; ",
"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": "Inflammatory bowel disease 28, autosomal recessive.",
"acronym": "IBD28.",
"accession": "DI-02674",
"synonyms": "Early-onset autosomal recessive inflammatory bowel disease.; ",
"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": "Inflammatory bowel disease 29.",
"acronym": "IBD29.",
"accession": "DI-05306",
"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": "Inflammatory bowel disease 30.",
"acronym": "IBD30.",
"accession": "DI-05954",
"synonyms": null,
"cross_references": "MeSH; D015212.",
"definition": "A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology and a multifactorial inheritance pattern. 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": "Inflammatory bowel disease 31, autosomal recessive.",
"acronym": "IBD31.",
"accession": "DI-06149",
"synonyms": "Inflammatory bowel disease, early-onset, autosomal recessive.; Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive.; ",
"cross_references": "MeSH; D015212.",
"definition": "A form of inflammatory bowel disease, a chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology and a multifactorial inheritance pattern. 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. IBD31 patients suffer from infantile ulcerative colitis and present with recurrent bloody diarrhea with anemia and leukocytosis, extensive lymphoplasmocytic infiltration, cryptitis, and apoptotic crypt abcesses throughout the colon and rectum. ",
"keywords": null
},
{
"identifier": "Inflammatory bowel disease, immunodeficiency, and encephalopathy.",
"acronym": "IBDIMDE.",
"accession": "DI-05431",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by severe infantile inflammatory bowel disease manifesting as bloody diarrhea and failure to thrive, global developmental delay, epilepsy, brain atrophy and encephalopathy. Affected individuals suffer from recurrent infections associated with impaired T-cell response to stimulation and decreased T-cell subsets, including regulatory and helper T cells. ",
"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": "Inflammatory poikiloderma with hair abnormalities and acral keratoses.",
"acronym": "IPHAK.",
"accession": "DI-06592",
"synonyms": null,
"cross_references": "MeSH; D012871.",
"definition": "An autosomal recessive disorder characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses. ",
"keywords": null
},
{
"identifier": "Inflammatory skin and bowel disease, neonatal, 1.",
"acronym": "NISBD1.",
"accession": "DI-03306",
"synonyms": null,
"cross_references": "MeSH; D015212.",
"definition": "A disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized. ",
"keywords": null
},
{
"identifier": "Inflammatory skin and bowel disease, neonatal, 2.",
"acronym": "NISBD2.",
"accession": "DI-04271",
"synonyms": null,
"cross_references": "MeSH; D015212.",
"definition": "A disorder characterized by inflammatory features with neonatal onset, involving the skin, hair, and gut. The skin lesions involve perioral and perianal erythema, psoriasiform erythroderma, with flares of erythema, scaling, and widespread pustules. Gastrointestinal symptoms include malabsorptive diarrhea that is exacerbated by intercurrent gastrointestinal infections. The hair is short or broken, and the eyelashes and eyebrows are wiry and disorganized. ",
"keywords": null
},
{
"identifier": "Inosine triphosphate pyrophosphohydrolase deficiency.",
"acronym": "ITPAD.",
"accession": "DI-01825",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "A common inherited condition characterized by the abnormal accumulation of inosine triphosphate in erythrocytes. It might have pharmacogenomic implications and be related to increased drug toxicity of purine analog drugs. ",
"keywords": null
},
{
"identifier": "Insulin-like growth factor 1 resistance.",
"acronym": "IGF1RES.",
"accession": "DI-02747",
"synonyms": "End-organ insensitivity to somatomedin.; IGF1 resistance.; Resistance to insulin-like growth factor I.; Resistance to somatomedin-C.; ",
"cross_references": "MeSH; D006130.",
"definition": "A disorder characterized by intrauterine growth retardation, poor postnatal growth and increased plasma IGF1 levels. ",
"keywords": null
},
{
"identifier": "Insulin-like growth factor I deficiency.",
"acronym": "IGF1D.",
"accession": "DI-01827",
"synonyms": "Growth retardation with sensorineural deafness and mental retardation.; IGF1 deficiency.; ",
"cross_references": "MeSH; D006130.",
"definition": "An autosomal recessive disorder characterized by growth retardation, sensorineural deafness and intellectual disability. ",
"keywords": "KW-0209:Deafness.; KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
}
]
}