{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5220&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5180&ordering=synonyms","results":[{"identifier":"Familial apolipoprotein gene cluster deletion syndrome.","acronym":"FAPLDS.","accession":"DI-06511","synonyms":null,"cross_references":"MeSH; D000012.","definition":"An autosomal dominant disorder of lipoprotein metabolism. Affected individuals do not produce ApoA-I, ApoC-III and ApoA-IV lipoproteins, have marked plasma high density lipoprotein (HDL) deficiency, and manifest premature atherosclerosis and coronary artery disease. ","keywords":null},{"identifier":"Familial cold autoinflammatory syndrome 2.","acronym":"FCAS2.","accession":"DI-01562","synonyms":null,"cross_references":"MeSH; D056587.","definition":"A rare autosomal dominant systemic inflammatory disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. ","keywords":null},{"identifier":"Buratti-Harel syndrome.","acronym":"BURHAS.","accession":"DI-06101","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by hypotonia apparent in early infancy, global developmental delay, delayed walking, language and speech delay, impaired intellectual development, and dysmorphic facial features. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Familial cold autoinflammatory syndrome 4.","acronym":"FCAS4.","accession":"DI-04279","synonyms":null,"cross_references":"MeSH; D056587.","definition":"A form of autoinflammatory syndrome, a rare autosomal dominant systemic disease characterized by recurrent episodes of maculopapular rash associated with arthralgias, myalgias, fever and chills, swelling of the extremities, and conjunctivitis after generalized exposure to cold. ","keywords":null},{"identifier":"Familial expansile osteolysis.","acronym":"FEO.","accession":"DI-01568","synonyms":null,"cross_references":"MedGen; C0432292.","definition":"Rare autosomal dominant bone disorder characterized by focal areas of increased bone remodeling. The osteolytic lesions develop usually in the long bones during early adulthood. FEO is often associated with early-onset deafness and loss of dentition. ","keywords":null},{"identifier":"Familial gestational hyperthyroidism.","acronym":"HTFG.","accession":"DI-02821","synonyms":null,"cross_references":"MeSH; D006980.","definition":"A condition characterized by abnormally high levels of serum thyroid hormones occurring during early pregnancy. ","keywords":null},{"identifier":"Familial Mediterranean fever, autosomal dominant.","acronym":"ADFMF.","accession":"DI-00495","synonyms":null,"cross_references":"MeSH; D010505.","definition":"A hereditary periodic fever syndrome characterized by periodic fever, serosal inflammation and pain in the abdomen, chest or joints as seen also in the autosomal recessive form of the disease. It is associated with reactive renal amyloidosis and characterized by colchicine unresponsiveness. ","keywords":"KW-1008:Amyloidosis.; "},{"identifier":"Familial Mediterranean fever, autosomal recessive.","acronym":"ARFMF.","accession":"DI-00496","synonyms":null,"cross_references":"MeSH; D010505.","definition":"A hereditary periodic fever syndrome characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. It is frequently complicated by reactive amyloidosis, which leads to renal failure and can be prophylactically treated with colchicine. ","keywords":"KW-1008:Amyloidosis.; "},{"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 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 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 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.; "}]}