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{
"count": 6723,
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"results": [
{
"identifier": "Fanconi anemia complementation group O.",
"acronym": "FANCO.",
"accession": "DI-02852",
"synonyms": null,
"cross_references": "MeSH; D005199.",
"definition": "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. ",
"keywords": "KW-0923:Fanconi anemia.; "
},
{
"identifier": "Fanconi anemia complementation group P.",
"acronym": "FANCP.",
"accession": "DI-03118",
"synonyms": null,
"cross_references": "MeSH; D005199.",
"definition": "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some individuals affected by Fanconi anemia of complementation group P have skeletal anomalies. ",
"keywords": "KW-0923:Fanconi anemia.; "
},
{
"identifier": "Fanconi anemia complementation group Q.",
"acronym": "FANCQ.",
"accession": "DI-03812",
"synonyms": null,
"cross_references": "MeSH; D005199.",
"definition": "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. ",
"keywords": "KW-0923:Fanconi anemia.; "
},
{
"identifier": "Fanconi anemia, complementation group R.",
"acronym": "FANCR.",
"accession": "DI-04906",
"synonyms": null,
"cross_references": "MeSH; D005199.",
"definition": "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. ",
"keywords": "KW-0923:Fanconi anemia.; "
},
{
"identifier": "Fanconi anemia, complementation group S.",
"acronym": "FANCS.",
"accession": "DI-05209",
"synonyms": null,
"cross_references": "MeSH; D005199.",
"definition": "A form of Fanconi anemia, a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. ",
"keywords": "KW-0923:Fanconi anemia.; "
},
{
"identifier": "Fanconi anemia complementation group T.",
"acronym": "FANCT.",
"accession": "DI-04462",
"synonyms": null,
"cross_references": "MeSH; D005199.",
"definition": "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. ",
"keywords": "KW-0923:Fanconi anemia.; "
},
{
"identifier": "Fanconi anemia, complementation group U.",
"acronym": "FANCU.",
"accession": "DI-04905",
"synonyms": null,
"cross_references": "MeSH; D005199.",
"definition": "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. ",
"keywords": "KW-0923:Fanconi anemia.; "
},
{
"identifier": "Fanconi anemia, complementation group V.",
"acronym": "FANCV.",
"accession": "DI-04907",
"synonyms": null,
"cross_references": "MeSH; D005199.",
"definition": "A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. ",
"keywords": "KW-0923:Fanconi anemia.; "
},
{
"identifier": "Fanconi anemia, complementation group W.",
"acronym": "FANCW.",
"accession": "DI-05128",
"synonyms": null,
"cross_references": "MeSH; D005199.",
"definition": "A form of Fanconi anemia, a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. ",
"keywords": "KW-0923:Fanconi anemia.; "
},
{
"identifier": "Fanconi-Bickel syndrome.",
"acronym": "FBS.",
"accession": "DI-01605",
"synonyms": "Fanconi syndrome with intestinal malabsorption and galactose intolerance.; Glycogenosis Fanconi type.; Glycogen storage disease XI.; Hepatic glycogenosis with amino aciduria and glucosuria.; Hepatic glycogenosis with Fanconi nephropathy.; Hepatorenal glycogenosis with renal Fanconi syndrome.; Pseudo-phlorizin diabetes.; ",
"cross_references": "MeSH; D006008.",
"definition": "Rare, well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose. ",
"keywords": null
},
{
"identifier": "Fanconi renotubular syndrome 1.",
"acronym": "FRTS1.",
"accession": "DI-05857",
"synonyms": "Adult Fanconi syndrome.; Fanconi renotubular syndrome.; Fanconi syndrome without cystinosis.; FRTS.; Luder-Sheldon syndrome.; Renal Fanconi syndrome.; RFS.; ",
"cross_references": "MeSH; D005198.",
"definition": "A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Fanconi renotubular syndrome 2.",
"acronym": "FRTS2.",
"accession": "DI-02851",
"synonyms": null,
"cross_references": "MeSH; D005198.",
"definition": "A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS2 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Fanconi renotubular syndrome 3.",
"acronym": "FRTS3.",
"accession": "DI-03997",
"synonyms": null,
"cross_references": "MeSH; D005198.",
"definition": "A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS3 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young.",
"acronym": "FRTS4.",
"accession": "DI-04230",
"synonyms": "FRTS4 with MODY.; ",
"cross_references": "MeSH; D005198.",
"definition": "An autosomal dominant disease characterized by Fanconi syndrome associated with a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Fanconi syndrome is a proximal tubulopathy resulting in generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia. Some FRTS4 patients have nephrocalcinosis, renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Fanconi renotubular syndrome 5.",
"acronym": "FRTS5.",
"accession": "DI-05856",
"synonyms": "Fanconi renotubular syndrome, Acadian variant.; ",
"cross_references": "MeSH; D005198.",
"definition": "A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS5 is an autosomal recessive mitochondrial disorder characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis. ",
"keywords": null
},
{
"identifier": "Farber lipogranulomatosis.",
"acronym": "FRBRL.",
"accession": "DI-01606",
"synonyms": "AC deficiency.; Acid ceramidase deficiency.; Ceramidase deficiency.; Farber disease.; N-laurylsphingosine deacylase deficiency.; ",
"cross_references": "MeSH; D055577.",
"definition": "An autosomal recessive lysosomal storage disorder characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, and marked accumulation of ceramide in lysosomes. Disease severity is variable. The most severe disease subtype is a rare neonatal form with death occurring before 1 year of age. ",
"keywords": null
},
{
"identifier": "Fatal familial insomnia.",
"acronym": "FFI.",
"accession": "DI-01607",
"synonyms": null,
"cross_references": "MedGen; C0206042.",
"definition": "Autosomal dominant disorder and is characterized by neuronal degeneration limited to selected thalamic nuclei and progressive insomnia. ",
"keywords": null
},
{
"identifier": "Faundes-Banka syndrome.",
"acronym": "FABAS.",
"accession": "DI-06142",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by variable combinations of developmental delay, microcephaly, micrognathia and dysmorphic features. ",
"keywords": null
},
{
"identifier": "Fazio-Londe disease.",
"acronym": "FALOND.",
"accession": "DI-03010",
"synonyms": "Bulbar palsy progressive of childhood.; Fazio-Londe syndrome.; ",
"cross_references": "MeSH; D010244.",
"definition": "A rare neurological disease characterized by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. It may present in childhood with severe neurological deterioration with hypotonia, respiratory insufficiency leading to premature death, or later in life with bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. ",
"keywords": null
},
{
"identifier": "Febrile seizures, familial, 11.",
"acronym": "FEB11.",
"accession": "DI-03335",
"synonyms": "Familial febrile convulsions 11.; ",
"cross_references": "MeSH; D003294.",
"definition": "Seizures associated with febrile episodes in childhood without any evidence of intracranial infection or defined pathologic or traumatic cause. It is a common condition, affecting 2-5% of children aged 3 months to 5 years. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. ",
"keywords": null
}
]
}