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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1980&ordering=-synonyms",
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"results": [
{
"identifier": "Epileptic encephalopathy, infantile or early childhood, 1.",
"acronym": "IECEE1.",
"accession": "DI-05114",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE1 is an autosomal dominant condition with onset of seizures between the first weeks and first years of life. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Diaphragmatic hernia 3.",
"acronym": "DIH3.",
"accession": "DI-01485",
"synonyms": null,
"cross_references": "MeSH; D065630.",
"definition": "A form of congenital diaphragmatic hernia, a posterolateral defect of the diaphragm, generally located on the left side, that permits the herniation of abdominal viscera into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. ",
"keywords": null
},
{
"identifier": "Diaphragmatic hernia 4, with cardiovascular defects.",
"acronym": "DIH4.",
"accession": "DI-06500",
"synonyms": null,
"cross_references": "MeSH; D065630.",
"definition": "An autosomal recessive form of congenital diaphragmatic hernia, a posterolateral defect of the diaphragm, generally located on the left side, that permits the herniation of abdominal viscera into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. ",
"keywords": null
},
{
"identifier": "Diaphragmatic hernia 5, X-linked.",
"acronym": "DIH5.",
"accession": "DI-06800",
"synonyms": null,
"cross_references": "MeSH; D065630.",
"definition": "A form of congenital diaphragmatic hernia, a posterolateral defect of the diaphragm, generally located on the left side, that permits the herniation of abdominal viscera into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. DIH5 is usually transmitted in an X-linked recessive pattern with males being severely affected. Early death is frequent. ",
"keywords": null
},
{
"identifier": "GRACILE syndrome.",
"acronym": "GRACILE.",
"accession": "DI-01684",
"synonyms": null,
"cross_references": "MedGen; C1864002.",
"definition": "GRACILE stands for 'growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death'. It is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. ",
"keywords": null
},
{
"identifier": "Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies.",
"acronym": "GKAF.",
"accession": "DI-06106",
"synonyms": null,
"cross_references": "MeSH; D000505.",
"definition": "An autosomal recessive disorder characterized by pre- and postnatal growth restriction with microcephaly, distinctive craniofacial features, congenital alopecia, hypoplastic kidneys with renal insufficiency, global developmental delay, severe congenital sensorineural hearing loss, hydrocephalus, genital hypoplasia, and early mortality. ",
"keywords": "KW-0209:Deafness.; KW-0242:Dwarfism.; KW-1063:Hypotrichosis.; "
},
{
"identifier": "Spermatogenic failure 36.",
"acronym": "SPGF36.",
"accession": "DI-05555",
"synonyms": null,
"cross_references": "MeSH; D007248.",
"definition": "An autosomal dominant infertility disorder due to teratozoospermia, with spermatozoa showing anomalies of the head, acrosome, and nucleus. ",
"keywords": null
},
{
"identifier": "Hereditary susceptibility to Wilms tumor 5.",
"acronym": "WT5.",
"accession": "DI-01738",
"synonyms": null,
"cross_references": "MedGen; C1832099.",
"definition": "Pediatric malignancy of kidney and one of the most common solid cancers in childhood. ",
"keywords": null
},
{
"identifier": "Holt-Oram syndrome.",
"acronym": "HOS.",
"accession": "DI-01752",
"synonyms": null,
"cross_references": "MedGen; C0265264.",
"definition": "Developmental disorder affecting the heart and upper limbs. It is characterized by thumb anomaly and atrial septal defects. ",
"keywords": null
},
{
"identifier": "Diarrhea 6.",
"acronym": "DIAR6.",
"accession": "DI-03451",
"synonyms": null,
"cross_references": "MeSH; D003967.",
"definition": "A relatively mild, early-onset chronic diarrhea that may be associated with increased susceptibility to inflammatory bowel disease, small bowel obstruction, and esophagitis. ",
"keywords": null
},
{
"identifier": "Diarrhea 7, protein-losing enteropathy type.",
"acronym": "DIAR7.",
"accession": "DI-04130",
"synonyms": null,
"cross_references": "MeSH; D003968.",
"definition": "A life-threatening disease characterized by severe, intractable, watery diarrhea. ",
"keywords": null
},
{
"identifier": "Diarrhea 8, secretory sodium, congenital.",
"acronym": "DIAR8.",
"accession": "DI-04683",
"synonyms": null,
"cross_references": "MeSH; D003968.",
"definition": "A disease characterized by watery secretory diarrhea with prenatal onset, prominent abdominal distension after birth due to dilated fluid-filled loops of intestine, elevated fecal sodium concentrations and low urinary sodium concentrations. ",
"keywords": null
},
{
"identifier": "Diarrhea 9.",
"acronym": "DIAR9.",
"accession": "DI-05373",
"synonyms": null,
"cross_references": "MeSH; D003968.",
"definition": "An autosomal recessive form of chronic diarrhea characterized by neonatal-onset of osmotic diarrhea that is not substrate specific, abnormal crypt and villus architecture, and significant fat malabsorption evidenced by high levels of fecal fat. ",
"keywords": null
},
{
"identifier": "Adrenal insufficiency, NR5A1-related.",
"acronym": "AINR.",
"accession": "DI-05003",
"synonyms": null,
"cross_references": "MeSH; D000309.",
"definition": "A disorder characterized by adrenal insufficiency, muscular hypotonia, decreased sodium and increased potassium levels, elevated ACTH, salt- wasting crisis, prolonged jaundice, hypoglycemia, and vomiting. ",
"keywords": null
},
{
"identifier": "Autoimmune thyroid disease 3.",
"acronym": "AITD3.",
"accession": "DI-02878",
"synonyms": null,
"cross_references": "MeSH; D013967.",
"definition": "A complex autoimmune disorder comprising two related diseases affecting the thyroid: Graves disease and Hashimoto thyroiditis. In both disorders, thyroid-reactive T-cells are formed and infiltrate the thyroid gland. In Graves disease, the majority of the T-cells undergo a Th2 differentiation and activate B-cells to produce antibodies against the TSH receptor, which stimulate the thyroid and cause clinical hyperthyroidism. In contrast, Hashimoto thyroiditis is characterized by Th1 switching of the thyroid-infiltrating T-cells, which induces apoptosis of thyroid follicular cells and clinical hypothyroidism. ",
"keywords": null
},
{
"identifier": "Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome.",
"acronym": "HADDTS.",
"accession": "DI-05219",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by delayed motor development, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Amyloidosis, primary localized cutaneous, 2.",
"acronym": "PLCA2.",
"accession": "DI-03102",
"synonyms": null,
"cross_references": "MeSH; D028226.",
"definition": "A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins. ",
"keywords": "KW-1008:Amyloidosis.; "
},
{
"identifier": "Immunodeficiency-centromeric instability-facial anomalies syndrome 2.",
"acronym": "ICF2.",
"accession": "DI-03138",
"synonyms": null,
"cross_references": "MeSH; D043171.",
"definition": "A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. ",
"keywords": null
},
{
"identifier": "Autoinflammation with arthritis and dyskeratosis.",
"acronym": "AIADK.",
"accession": "DI-04967",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": null
},
{
"identifier": "Mitochondrial DNA depletion syndrome 16, hepatic type.",
"acronym": "MTDPS16.",
"accession": "DI-05631",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "An autosomal recessive disorder characterized by poor feeding, difficulty breathing, abdominal distention, an abnormal carnitine profile, metabolic acidosis and hepatic failure in the neonatal period. Severe mtDNA depletion is observed in liver and muscle biopsies. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
}
]
}