Human Disease List
GET /api/human_diseases/?format=api&offset=6180&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6200&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6160&ordering=-identifier", "results": [ { "identifier": "Bartter syndrome 2, antenatal.", "acronym": "BARTS2.", "accession": "DI-00174", "synonyms": "aBS2.; Antenatal Bartter syndrome 2.; Bartter syndrome 2.; BS2.; Hyperprostanglandin E syndrome 2.; Hypokalemic alkalosis with hypercalciuria antenatal 2.; ", "cross_references": "MeSH; D001477.", "definition": "A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS2 is a life- threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia. ", "keywords": "KW-0910:Bartter syndrome.; " }, { "identifier": "Bartter syndrome 1, antenatal.", "acronym": "BARTS1.", "accession": "DI-00173", "synonyms": "aBS1.; Antenatal Bartter syndrome 1.; BS1.; Hyperprostaglandin E syndrome 1.; Hypokalemic alkalosis with hypercalciuria antenatal 1.; ", "cross_references": "MeSH; D001477.", "definition": "A form of Bartter syndrome, an autosomal recessive disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS1 is a life- threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia. ", "keywords": "KW-0910:Bartter syndrome.; " }, { "identifier": "Bartsocas-Papas syndrome 2.", "acronym": "BPS2.", "accession": "DI-06116", "synonyms": "Popliteal pterygium syndrome, Bartsocas-Papas type 2.; ", "cross_references": "MeSH; D000015.", "definition": "An autosomal recessive, severe form of popliteal pterygium syndrome. Popliteal pterygia syndromes have considerable variability in severity and in the associated phenotypic features but they are all characterized by cutaneous webbing across one or more major joints, cleft lip and/or palate, syndactyly, and genital malformations. ", "keywords": null }, { "identifier": "Bartsocas-Papas syndrome.", "acronym": "BPS.", "accession": "DI-03375", "synonyms": "Multiple pterygium syndrome, Aslan type.; Popliteal pterygium syndrome, lethal type.; ", "cross_references": "MeSH; D011625.", "definition": "An autosomal recessive disorder characterized by multiple popliteal pterygia leading to severe arthrogryposis, ankyloblepharon filiforme adnatum, filiform bands between the jaws, synostosis of the carpal/tarsal and phalangeal bones in the hands and feet, digital hypoplasia/aplasia, complete soft-tissue syndactyly, lack of nails, lack of scalp hair, eyebrows and eyelashes, blepharophimosis, cleft lip and/or palate, and hypoplastic external genitalia. Early lethality is common, although survival into childhood and beyond has been reported. ", "keywords": null }, { "identifier": "Bart-Pumphrey syndrome.", "acronym": "BAPS.", "accession": "DI-00172", "synonyms": "Knuckle pads, leukonychia, and sensorineural deafness.; ", "cross_references": "MeSH; D007645.", "definition": "An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability. ", "keywords": "KW-0209:Deafness.; KW-1007:Palmoplantar keratoderma.; " }, { "identifier": "Barth syndrome.", "acronym": "BTHS.", "accession": "DI-00005", "synonyms": "3-alpha-methylglutaconic aciduria type 2.; 3-methylglutaconic aciduria type 2.; 3-methylglutaconic aciduria type II.; AGM2.; Cardioskeletal myopathy-neutropenia.; Cardioskeletal myopathy with neutropenia and abnormal mitochondria.; INVM.; Left ventricular non-compaction isolated X-linked.; MGA2.; MGA type II.; MGCA2.; Non-compaction of left ventricular myocardium isolated X-linked.; ", "cross_references": "MeSH; D056889.", "definition": "An X-linked disease characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Additional features include hypertrophic cardiomyopathy, isolated left ventricular non- compaction, ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood. ", "keywords": "KW-0122:Cardiomyopathy.; " }, { "identifier": "Barrett esophagus.", "acronym": "BE.", "accession": "DI-03276", "synonyms": "Barrett metaplasia.; ", "cross_references": "MeSH; D001471.", "definition": "A condition characterized by a metaplastic change in which normal esophageal squamous epithelium is replaced by a columnar and intestinal-type epithelium. Patients with Barrett esophagus have an increased risk of esophageal adenocarcinoma. The main cause of Barrett esophagus is gastroesophageal reflux. The retrograde movement of acid and bile salts from the stomach into the esophagus causes prolonged injury to the esophageal epithelium and induces chronic esophagitis, which in turn is believed to trigger the pathologic changes. ", "keywords": null }, { "identifier": "Bardet-Biedl syndrome 9.", "acronym": "BBS9.", "accession": "DI-00167", "synonyms": null, "cross_references": "MeSH; D020788.", "definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ", "keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; " }, { "identifier": "Bardet-Biedl syndrome 8.", "acronym": "BBS8.", "accession": "DI-00166", "synonyms": null, "cross_references": "MeSH; D020788.", "definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ", "keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; " }, { "identifier": "Bardet-Biedl syndrome 7.", "acronym": "BBS7.", "accession": "DI-00165", "synonyms": null, "cross_references": "MeSH; D020788.", "definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ", "keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; " }, { "identifier": "Bardet-Biedl syndrome 6.", "acronym": "BBS6.", "accession": "DI-00164", "synonyms": null, "cross_references": "MeSH; D020788.", "definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ", "keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; " }, { "identifier": "Bardet-Biedl syndrome 5.", "acronym": "BBS5.", "accession": "DI-00163", "synonyms": null, "cross_references": "MeSH; D020788.", "definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ", "keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; " }, { "identifier": "Bardet-Biedl syndrome 4.", "acronym": "BBS4.", "accession": "DI-00162", "synonyms": null, "cross_references": "MeSH; D020788.", "definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ", "keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; " }, { "identifier": "Bardet-Biedl syndrome 3.", "acronym": "BBS3.", "accession": "DI-00161", "synonyms": null, "cross_references": "MeSH; D020788.", "definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ", "keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; " }, { "identifier": "Bardet-Biedl syndrome 22.", "acronym": "BBS22.", "accession": "DI-04830", "synonyms": null, "cross_references": "MeSH; D020788.", "definition": "A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ", "keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; " }, { "identifier": "Bardet-Biedl syndrome 21.", "acronym": "BBS21.", "accession": "DI-04960", "synonyms": null, "cross_references": "MeSH; D020788.", "definition": "A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ", "keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; " }, { "identifier": "Bardet-Biedl syndrome 20.", "acronym": "BBS20.", "accession": "DI-06190", "synonyms": null, "cross_references": "MeSH; D020788.", "definition": "A form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ", "keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; " }, { "identifier": "Bardet-Biedl syndrome 2.", "acronym": "BBS2.", "accession": "DI-00160", "synonyms": null, "cross_references": "MeSH; D020788.", "definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ", "keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; " }, { "identifier": "Bardet-Biedl syndrome 19.", "acronym": "BBS19.", "accession": "DI-04162", "synonyms": null, "cross_references": "MeSH; D020788.", "definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ", "keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; " }, { "identifier": "Bardet-Biedl syndrome 18.", "acronym": "BBS18.", "accession": "DI-04077", "synonyms": null, "cross_references": "MeSH; D020788.", "definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ", "keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; " } ] }