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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5500&ordering=synonyms",
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"results": [
{
"identifier": "Hyperekplexia 4.",
"acronym": "HKPX4.",
"accession": "DI-05272",
"synonyms": null,
"cross_references": "MeSH; D000071017.",
"definition": "An autosomal recessive severe neurologic disorder apparent from birth. HKPX4 is characterized by little if any development, hypertonia, early-onset refractory seizures in some patients, and respiratory failure resulting in early death, mostly in the first months of life. ",
"keywords": null
},
{
"identifier": "Hyperemesis gravidarum.",
"acronym": "HG.",
"accession": "DI-06832",
"synonyms": null,
"cross_references": "MeSH; D006939.",
"definition": "An autosomal dominant condition characterized by severe nausea and vomiting in pregnancy. It occurs in up to 2% of pregnancies and leads to significant weight loss, dehydration, electrolyte imbalance, and ketonuria. It is associated with both maternal and fetal morbidity. ",
"keywords": null
},
{
"identifier": "Hyperferritinemia.",
"acronym": "HRFT.",
"accession": "DI-06851",
"synonyms": null,
"cross_references": "MeSH; D000085583.",
"definition": "An autosomal recessive condition characterized by increased serum ferritin levels in the absence of iron overload or other clinical symptoms. ",
"keywords": null
},
{
"identifier": "Hyperimmunoglobulinemia D and periodic fever syndrome.",
"acronym": "HIDS.",
"accession": "DI-01768",
"synonyms": null,
"cross_references": "MedGen; C0398691.",
"definition": "Autosomal recessive disease characterized by recurrent episodes of unexplained high fever associated with skin rash, diarrhea, adenopathy (swollen, tender lymph nodes), arthralgias and/or arthritis. Concentration of IgD, and often IgA, are above normal. ",
"keywords": null
},
{
"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": "Hyperinsulinemic hypoglycemia, familial, 3.",
"acronym": "HHF3.",
"accession": "DI-01581",
"synonyms": null,
"cross_references": "MeSH; D007003.",
"definition": "A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF3 clinical features include loss of consciousness due to hypoglycemia, hypoglycemic coma, mental retardation due to repeated episodes of hypoglycemia, and seizures. HHF3 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Hyperinsulinemic hypoglycemia, familial, 4.",
"acronym": "HHF4.",
"accession": "DI-01582",
"synonyms": null,
"cross_references": "MeSH; D007003.",
"definition": "A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF4 clinical features include hypoglycemic coma, mental retardation due to repeated episodes of hypoglycemia, and seizures. HHF4 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Hyperinsulinemic hypoglycemia, familial, 5.",
"acronym": "HHF5.",
"accession": "DI-01583",
"synonyms": null,
"cross_references": "MeSH; D007003.",
"definition": "A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF5 clinical features include loss of consciousness due to hypoglycemia and hypoglycemic seizures. HHF5 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Hyperinsulinemic hypoglycemia, familial, 8.",
"acronym": "HHF8.",
"accession": "DI-06591",
"synonyms": null,
"cross_references": "MeSH; D007003.",
"definition": "A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF8 is an autosomal recessive form characterized by episodes of symptomatic hypoglycemia provoked by protein feeding, and persistent mild hyperammonemia. Affected children tend to have recurrent generalized seizures. ",
"keywords": null
},
{
"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.; "
},
{
"identifier": "Hypermanganesemia with dystonia 2.",
"acronym": "HMNDYT2.",
"accession": "DI-04753",
"synonyms": null,
"cross_references": "MeSH; D008659.",
"definition": "A metabolic autosomal recessive disorder characterized by increased blood manganese levels, neurodegeneration, and rapidly progressive parkinsonism and dystonia. Affected individuals present with loss of developmental milestones, progressive dystonia and bulbar dysfunction in infancy or early childhood. Towards the end of the first decade, they manifest severe generalized pharmacoresistant dystonia, spasticity, limb contractures and scoliosis, and loss of independent ambulation. Cognition may be impaired, but is better preserved than motor function. ",
"keywords": "KW-0523:Neurodegeneration.; KW-0908:Parkinsonism.; KW-1023:Dystonia.; "
},
{
"identifier": "Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2.",
"acronym": "HUMOP2.",
"accession": "DI-06541",
"synonyms": null,
"cross_references": "MeSH; D008659.",
"definition": "A disorder apparent in infancy and characterized by euthyroid hypermetabolism, failure to thrive despite excessive caloric intake, intermittent hyperthermia, and developmental delay. ",
"keywords": null
},
{
"identifier": "Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency.",
"acronym": "HMAHCHD.",
"accession": "DI-01774",
"synonyms": null,
"cross_references": "MeSH; D000592.",
"definition": "A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy. ",
"keywords": null
},
{
"identifier": "Hyperostosis cranialis interna.",
"acronym": "HCIN.",
"accession": "DI-05257",
"synonyms": null,
"cross_references": "MeSH; D015576.",
"definition": "An autosomal dominant bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII, its first symptoms often presenting during the second decade of life. ",
"keywords": null
},
{
"identifier": "Bardet-Biedl syndrome 17.",
"acronym": "BBS17.",
"accession": "DI-04076",
"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 16.",
"acronym": "BBS16.",
"accession": "DI-04258",
"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.; "
}
]
}