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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1960&ordering=identifier",
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"results": [
{
"identifier": "Diaphyseal medullary stenosis with malignant fibrous histiocytoma.",
"acronym": "DMSMFH.",
"accession": "DI-03464",
"synonyms": "BDMF.; Bone dysplasia with malignant fibrous histiocytoma.; Bone dysplasia with medullary fibrosarcoma.; DMS-MFH.; Limb-girdle myopathy with bone fragility.; ",
"cross_references": "MeSH; D051677.",
"definition": "An autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. Some patients show a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma or osteosarcoma. ",
"keywords": null
},
{
"identifier": "Diarrhea 10, protein-losing enteropathy type.",
"acronym": "DIAR10.",
"accession": "DI-05384",
"synonyms": null,
"cross_references": "MeSH; D003968.",
"definition": "An autosomal recessive, congenital diarrheal disorder characterized by intractable secretory diarrhea with massive protein loss due to leaky fenestrated capillaries, severe hypoalbuminemia, hypogammaglobulinemia, hypertriglyceridemia, and electrolyte abnormalities. Disease severity is variable and death in infancy may occur in severe cases. Some patients show facial dysmorphic features, and cardiac and renal abnormalities. ",
"keywords": null
},
{
"identifier": "Diarrhea 11, malabsorptive, congenital.",
"acronym": "DIAR11.",
"accession": "DI-05692",
"synonyms": "IDIS.; Intractable diarrhea of infancy syndrome.; ",
"cross_references": "MeSH; D003968.",
"definition": "A disease characterized by severe, life-threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells. DIAR11 is characterized by onset of intractable diarrhea within the first few weeks of life. ",
"keywords": null
},
{
"identifier": "Diarrhea 12, with microvillus atrophy.",
"acronym": "DIAR12.",
"accession": "DI-06171",
"synonyms": "Microvillus inclusion disease 2.; MVID2.; ",
"cross_references": "MeSH; D008286.",
"definition": "An autosomal recessive congenital enteropathy characterized by intractable secretory diarrhea, resulting in severe dehydration and metabolic acidosis. DIAR12 can be diagnosed based on variable loss of brush-border microvilli, microvillus inclusions, and accumulation of subapical vesicles in villus enterocytes. ",
"keywords": null
},
{
"identifier": "Diarrhea 13.",
"acronym": "DIAR13.",
"accession": "DI-06658",
"synonyms": null,
"cross_references": "MeSH; D003968.",
"definition": "An autosomal recessive disorder characterized by neonatal onset of recurrent vomiting and diarrhea, leading to severe failure to thrive. ",
"keywords": null
},
{
"identifier": "Diarrhea 1, secretory chloride, congenital.",
"acronym": "DIAR1.",
"accession": "DI-01395",
"synonyms": "Chloridorrhea congenital.; CLD.; Congenital chloride diarrhea Finnish type.; Diarrhea 1 secretory chloride congenital.; ",
"cross_references": "MeSH; D003968.",
"definition": "A disease characterized by voluminous watery stools containing an excess of chloride. The children with this disease are often premature. ",
"keywords": null
},
{
"identifier": "Diarrhea 2, with microvillus atrophy, with or without cholestasis.",
"acronym": "DIAR2.",
"accession": "DI-01979",
"synonyms": "Congenital familial protracted diarrhea with enterocyte brush-border abnormalities.; Davidson disease.; Intractable diarrhea of infancy.; Microvillus atrophy congenital.; Microvillus inclusion disease 1.; MVID1.; ",
"cross_references": "MeSH; D003968.",
"definition": "A disease characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. ",
"keywords": null
},
{
"identifier": "Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies.",
"acronym": "DIAR3.",
"accession": "DI-01417",
"synonyms": "Congenital sodium diarrhea.; CSD.; Diarrhea 3, secretory sodium, congenital, syndromic.; ",
"cross_references": "MeSH; D003968.",
"definition": "A disease characterized by life-threatening secretory diarrhea, severe metabolic acidosis and hyponatremia. Hyponatremia is secondary to extraordinarily high fecal sodium loss, with low or normal excretion of urinary sodium, in the absence of infectious, autoimmune and endocrine causes. ",
"keywords": null
},
{
"identifier": "Diarrhea 4, malabsorptive, congenital.",
"acronym": "DIAR4.",
"accession": "DI-01408",
"synonyms": "Enteric anendocrinosis.; ",
"cross_references": "MeSH; D003968.",
"definition": "A disease characterized by severe, life-threatening watery diarrhea associated with generalized malabsorption and a paucity of enteroendocrine cells. ",
"keywords": null
},
{
"identifier": "Diarrhea 5, with tufting enteropathy, congenital.",
"acronym": "DIAR5.",
"accession": "DI-02845",
"synonyms": "Congenital tufting enteropathy.; CTE.; Intestinal epithelial cell dysplasia.; ",
"cross_references": "MeSH; D003968.",
"definition": "An intractable diarrhea of infancy characterized by villous atrophy and absence of inflammation, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum. ",
"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": "Diastrophic dysplasia.",
"acronym": "DTD.",
"accession": "DI-00399",
"synonyms": "DD.; Diastrophic dwarfism.; ",
"cross_references": "MeSH; D010009.",
"definition": "An autosomal recessive disease characterized by osteochondrodysplasia with clinical features including dwarfism, spinal deformation, and specific joint abnormalities. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Dicarboxylic aminoaciduria.",
"acronym": "DCBXA.",
"accession": "DI-04231",
"synonyms": "Glutamate-aspartate transport defect.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by abnormal excretion of urinary glutamate and aspartate, resulting from the incomplete reabsorption of anionic amino acids from the glomerular filtrate in the kidney. It can be associated with intellectual disability. ",
"keywords": null
},
{
"identifier": "Diencephalic-mesencephalic junction dysplasia syndrome 1.",
"acronym": "DMJDS1.",
"accession": "DI-05123",
"synonyms": "Microcephaly, seizures, spasticity, and brain calcifications.; Microcephaly with spastic quadriplegia.; MISSBC.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive syndrome characterized by severe global developmental delay with profound intellectual disability, spasticity or dystonia, and congenital microcephaly. Brain imaging shows hypothalamic midbrain dysplasia, diencephalic-mesencephalic dysplasia, and intracerebral calcifications. ",
"keywords": "KW-0887:Epilepsy.; KW-0905:Primary microcephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Diencephalic-mesencephalic junction dysplasia syndrome 2.",
"acronym": "DMJDS2.",
"accession": "DI-05683",
"synonyms": "Spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder with onset at birth, characterized by severe global developmental delay, hypotonia, spastic tetraparesis, generalized dystonia and severe intellectual impairment. Brain imaging shows a unique brain malformation characterized by agenesis of putamina and globi pallidi, dysgenesis of the caudate nuclei, olfactory bulbs hypoplasia, and anomaly of the diencephalic-mesencephalic junction with abnormal corticospinal tract course. ",
"keywords": "KW-0991:Intellectual disability.; KW-1023:Dystonia.; "
},
{
"identifier": "Diets-Jongmans syndrome.",
"acronym": "DIJOS.",
"accession": "DI-05814",
"synonyms": "IDDFD.; Intellectual developmental disorder with distinctive facial dysmorphism.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by varying degrees of intellectual disability, developmental delay, short stature, and characteristic facial features such as a wide mouth, a pointed chin, long ears and a low columella. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Diffuse gastric and lobular breast cancer syndrome.",
"acronym": "DGLBC.",
"accession": "DI-01645",
"synonyms": "Gastric cancer familial diffuse.; Gastric cancer familial diffuse and cleft lip with or without cleft palate.; HDGC.; Hereditary diffuse gastric cancer.; ",
"cross_references": "MeSH; D013274.",
"definition": "A cancer predisposition syndrome with increased susceptibility to diffuse gastric cancer. Diffuse gastric cancer is a malignant disease characterized by poorly differentiated infiltrating lesions resulting in thickening of the stomach. Malignant tumors start in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. In addition to gastric cancer, most female mutation carriers develop lobular carcinoma of the breast. ",
"keywords": null
}
]
}