{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2360&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2320&ordering=-synonyms","results":[{"identifier":"Deafness, autosomal dominant, 75.","acronym":"DFNA75.","accession":"DI-05761","synonyms":null,"cross_references":"MeSH; D034381.","definition":"A form of non-syndromic deafness characterized by late-onset hearing loss that involves mid and high frequencies, and progresses to encompass all frequencies. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Immunodeficiency 55.","acronym":"IMD55.","accession":"DI-05177","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive primary immunodeficiency characterized by chronic neutropenia, natural killer cell deficiency, recurrent viral and bacterial infections, and intrauterine growth retardation. Postnatal growth retardation is present in most patients. ","keywords":null},{"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.; "},{"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 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":"Coenzyme Q10 deficiency, primary, 5.","acronym":"COQ10D5.","accession":"DI-03448","synonyms":null,"cross_references":"MeSH; D028361.","definition":"A form of coenzyme Q10 deficiency, an autosomal recessive disorder with variable manifestations consistent with 5 major phenotypes. The phenotypes include an encephalomyopathic form with seizures and ataxia; a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure; a predominantly cerebellar form with ataxia and cerebellar atrophy; Leigh syndrome with growth retardation; and an isolated myopathic form. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"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 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":"Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures.","acronym":"OPA10.","accession":"DI-04624","synonyms":null,"cross_references":"MeSH; D015418.","definition":"An autosomal recessive disease characterized by progressive visual loss in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA10 patients may also manifest mild ataxia, mild intellectual disability and, rarely, generalized seizures. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "}]}