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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2340&ordering=identifier",
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"results": [
{
"identifier": "Familial multiple endocrine neoplasia type I.",
"acronym": "MEN1.",
"accession": "DI-01593",
"synonyms": null,
"cross_references": "MedGen; C3149237.",
"definition": "Autosomal dominant disorder characterized by tumors of the parathyroid glands, gastro-intestinal endocrine tissue, the anterior pituitary and other tissues. Cutaneous lesions and nervous-tissue tumors can exist. Prognosis in MEN1 patients is related to hormonal hypersecretion by tumors, such as hypergastrinemia causing severe peptic ulcer disease (Zollinger-Ellison syndrome, ZES), primary hyperparathyroidism, and acute forms of hyperinsulinemia. ",
"keywords": null
},
{
"identifier": "Familial non-Hodgkin lymphoma.",
"acronym": "NHL.",
"accession": "DI-01594",
"synonyms": null,
"cross_references": "MedGen; C0024305.",
"definition": "Cancer that starts in cells of the lymph system, which is part of the body's immune system. NHLs can occur at any age and are often marked by enlarged lymph nodes, fever and weight loss. ",
"keywords": null
},
{
"identifier": "Familial paroxysmal ventricular fibrillation 1.",
"acronym": "VF1.",
"accession": "DI-01808",
"synonyms": "IVF.; Susceptibility to ventricular fibrillation during myocardial infarction.; Ventricular fibrillation, paroxysmal familial, 1.; VF.; ",
"cross_references": "MeSH; D014693.",
"definition": "A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity. ",
"keywords": null
},
{
"identifier": "Familial paroxysmal ventricular fibrillation 2.",
"acronym": "VF2.",
"accession": "DI-02563",
"synonyms": null,
"cross_references": "MeSH; D014693.",
"definition": "A cardiac arrhythmia marked by fibrillary contractions of the ventricular muscle due to rapid repetitive excitation of myocardial fibers without coordinated contraction of the ventricle and by absence of atrial activity. ",
"keywords": null
},
{
"identifier": "Familial platelet disorder with associated myeloid malignancy.",
"acronym": "FPDMM.",
"accession": "DI-01597",
"synonyms": null,
"cross_references": "MedGen; C1832388.",
"definition": "Autosomal dominant disease characterized by qualitative and quantitative platelet defects, and propensity to develop acute myelogenous leukemia. ",
"keywords": null
},
{
"identifier": "Familial porphyria cutanea tarda.",
"acronym": "FPCT.",
"accession": "DI-00497",
"synonyms": "PCT type II.; Porphyria cutanea tarda type II.; Porphyria hepatocutaneous type.; UROD deficiency.; Uroporphyrinogen decarboxylase deficiency.; ",
"cross_references": "MeSH; D017119.",
"definition": "A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Familial porphyria cutanea tarda is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage. ",
"keywords": null
},
{
"identifier": "Familial scaphocephaly syndrome.",
"acronym": "FSPC.",
"accession": "DI-00498",
"synonyms": "Scaphocephaly, maxillary retrusion, and impaired intellectual development.; ",
"cross_references": "MeSH; D003398.",
"definition": "An autosomal dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head. It is due to premature fusion of the sagittal suture or from external deformation. ",
"keywords": "KW-0989:Craniosynostosis.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Familial spinal neurofibromatosis.",
"acronym": "FSNF.",
"accession": "DI-01598",
"synonyms": null,
"cross_references": "MedGen; C1834235.",
"definition": "Considered to be an alternative form of neurofibromatosis, showing multiple spinal tumors. ",
"keywords": null
},
{
"identifier": "Fanconi anemia, complementation group A.",
"acronym": "FANCA.",
"accession": "DI-01599",
"synonyms": "Estren-Dameshek variant of Fanconi anemia.; Estren-Dameshek variant of Fanconi pancytopenia.; FA.; Fanconi anemia.; Fanconi anemia Estren-Dameshek variant.; ",
"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 B.",
"acronym": "FANCB.",
"accession": "DI-01600",
"synonyms": "FA2.; Fanconi pancytopenia type 2.; ",
"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 severe FANCB cases manifest features of VACTERL syndrome with hydrocephalus. ",
"keywords": "KW-0923:Fanconi anemia.; "
},
{
"identifier": "Fanconi anemia complementation group C.",
"acronym": "FANCC.",
"accession": "DI-03112",
"synonyms": "FA3.; FAC.; FACC.; Fanconi pancytopenia type 3.; ",
"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 D1.",
"acronym": "FANCD1.",
"accession": "DI-01601",
"synonyms": "FAD1.; ",
"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 D2.",
"acronym": "FANCD2.",
"accession": "DI-02763",
"synonyms": "FA4.; FACD.; FAD2.; FANCD.; Fanconi anemia complementation group D.; Fanconi pancytopenia type 4.; ",
"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 E.",
"acronym": "FANCE.",
"accession": "DI-03117",
"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 F.",
"acronym": "FANCF.",
"accession": "DI-03058",
"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 G.",
"acronym": "FANCG.",
"accession": "DI-03136",
"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 I.",
"acronym": "FANCI.",
"accession": "DI-01602",
"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 J.",
"acronym": "FANCJ.",
"accession": "DI-01603",
"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 L.",
"acronym": "FANCL.",
"accession": "DI-03153",
"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 N.",
"acronym": "FANCN.",
"accession": "DI-01604",
"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.; "
}
]
}