Human Disease List
GET /api/human_diseases/?format=api&offset=4760&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4780&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4740&ordering=-identifier", "results": [ { "identifier": "Digital clubbing, isolated congenital.", "acronym": "DIGC.", "accession": "DI-02474", "synonyms": "Clubbing of digits.; Hereditary acropachy.; ", "cross_references": "MeSH; D009260.", "definition": "A rare genodermatosis characterized by enlargement of the nail plate and terminal segments of the fingers and toes, resulting from proliferation of the connective tissues between the nail matrix and the distal phalanx. It is usually symmetrical and bilateral (in some cases unilateral). In nail clubbing usually the distal end of the nail matrix is relatively high compared to the proximal end, while the nail plate is complete but its dimensions and diameter more or less vary in comparison to normal. There may be different fingers and toes involved to varying degrees. Some fingers or toes are spared, but the thumbs are almost always involved. ", "keywords": null }, { "identifier": "Digital arthropathy-brachydactyly, familial.", "acronym": "FDAB.", "accession": "DI-03486", "synonyms": null, "cross_references": "MeSH; D059327.", "definition": "A disorder characterized by irregularities in the proximal articular surfaces of the distal interphalangeal joints of the hand. Individuals appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia. The earliest changes appear during the first decade of life. By adulthood, all interphalangeal, metacarpophalangeal, and metatarsophalangeal joints are affected by a deforming, painful osteoarthritis. The remainder of the skeleton is clinically and radiographically unaffected. ", "keywords": null }, { "identifier": "DiGeorge syndrome.", "acronym": "DGS.", "accession": "DI-01487", "synonyms": "Chromosome 22q11.2 deletion syndrome.; Hypoplasia of thymus and parathyroids.; Third and fourth pharyngeal pouch syndrome.; ", "cross_references": "MeSH; D004062.", "definition": "A congenital syndrome characterized by a wide spectrum of characteristics including parathyroid hypoplasia resulting in hypocalcemia, thymic hypoplasia resulting in T-cell immunodeficiency, defects in the outflow tract of the heart, and craniofacial anomalies. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. ", "keywords": null }, { "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 }, { "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": "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": "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": "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": "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": "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": "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 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 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 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 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 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 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 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 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 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 } ] }