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{
"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 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 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 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 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 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": "Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis.",
"acronym": "DCWHKTA.",
"accession": "DI-04267",
"synonyms": null,
"cross_references": "MeSH; D007645.",
"definition": "A cardiocutaneous syndrome characterized by biventricular dilated cardiomyopathy, hyperkeratosis, woolly hair, palmoplantar keratoderma, and hypo/oligodontia. ",
"keywords": "KW-0122:Cardiomyopathy.; KW-1007:Palmoplantar keratoderma.; "
},
{
"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 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": "Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy.",
"acronym": "DFNHCM.",
"accession": "DI-01013",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "An autosomal dominant sensorineural deafness associated with hypertrophic cardiomyopathy. ",
"keywords": "KW-0122:Cardiomyopathy.; KW-0209:Deafness.; "
},
{
"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": "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": "Cardiomyopathy, dilated, 2J.",
"acronym": "CMD2J.",
"accession": "DI-06798",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2J is an autosomal recessive form characterized by onset of heart failure within the first year of life. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Infantile-onset ascending spastic paralysis.",
"acronym": "IAHSP.",
"accession": "DI-01823",
"synonyms": null,
"cross_references": "MedGen; C2931441.",
"definition": "Characterized by progressive spasticity and weakness of limbs. ",
"keywords": null
},
{
"identifier": "Infantile liver failure syndrome 3.",
"acronym": "ILFS3.",
"accession": "DI-05669",
"synonyms": null,
"cross_references": "MeSH; D017093.",
"definition": "A form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first months or years of life. ILFS3 is an autosomal recessive form characterized by recurrent episodes of acute liver failure often triggered by infection or fever. Affected individuals also have skeletal anomalies of the vertebral bodies and femoral heads. ",
"keywords": null
},
{
"identifier": "Infantile liver failure syndrome 2.",
"acronym": "ILFS2.",
"accession": "DI-04550",
"synonyms": null,
"cross_references": "MeSH; D017093.",
"definition": "A form of infantile liver failure syndrome, a life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis. ",
"keywords": null
},
{
"identifier": "Infantile liver failure syndrome 1.",
"acronym": "ILFS1.",
"accession": "DI-03895",
"synonyms": null,
"cross_references": "MeSH; D017093.",
"definition": "A life-threatening disorder of hepatic function that manifests with acute liver failure in the first few months of life. Clinical features include anemia, renal tubulopathy, developmental delay, seizures, failure to thrive, and liver steatosis and fibrosis. ",
"keywords": null
},
{
"identifier": "Infantile cerebellar-retinal degeneration.",
"acronym": "ICRD.",
"accession": "DI-03409",
"synonyms": null,
"cross_references": "MeSH; D019636.",
"definition": "A severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development.",
"acronym": "CASGID.",
"accession": "DI-05490",
"synonyms": null,
"cross_references": "MeSH; D012873.",
"definition": "An autosomal dominant disease characterized by infantile-onset cataract, erythematic subcutaneous nodules, profound developmental delay, self-injurious behavior, and intracerebral glutamate excess. Histopathologic analysis of skin lesions show deep perivascular and periglandular lymphohistiocytic infiltrates and pronounced leukocytoclasia at the surface of the dermis, focal vacuolar alterations, hyperkeratosis, and parakeratosis of the epidermis. ",
"keywords": "KW-0898:Cataract.; "
},
{
"identifier": "Deafness and myopia.",
"acronym": "DFNMYP.",
"accession": "DI-03969",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "An autosomal recessive disorder characterized by prelingual sensorineural hearing loss associated with high myopia. ",
"keywords": "KW-0209:Deafness.; "
}
]
}