Human Disease List
GET /api/human_diseases/?format=api&offset=4400&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4420&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4380&ordering=-identifier", "results": [ { "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 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 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 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 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 male precocious puberty.", "acronym": "FMPP.", "accession": "DI-01592", "synonyms": "Testotoxicosis.; ", "cross_references": "MedGen; C2674612.", "definition": "In FMPP the receptor is constitutively activated. ", "keywords": null }, { "identifier": "Familial infantile myoclonic epilepsy.", "acronym": "FIME.", "accession": "DI-02926", "synonyms": "EIM.; ", "cross_references": "MeSH; D004831.", "definition": "A subtype of idiopathic epilepsy starting in early infancy and manifesting as myoclonic seizures, febrile convulsions, and tonic- clonic seizures. ", "keywords": "KW-0887:Epilepsy.; " }, { "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 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 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 cold autoinflammatory syndrome 3.", "acronym": "FCAS3.", "accession": "DI-03380", "synonyms": "Antibody deficiency and immune dysregulation PLACG2-associated.; FACU.; Familial atypical cold urticaria.; PLAID.; ", "cross_references": "MeSH; D056587.", "definition": "An autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritis in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B-cells, defective B-cells, increased susceptibility to infection, and increased risk of autoimmune disorders. ", "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": "Familial cold autoinflammatory syndrome 1.", "acronym": "FCAS1.", "accession": "DI-01561", "synonyms": "CAPS1.; Cold hypersensitivity.; Cryopyrin-associated periodic syndrome 1.; Familial cold-induced autoinflammatory syndrome.; Familial cold urticaria.; FCAS.; FCU.; ", "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. Rarely, some patients may also develop late-onset renal amyloidosis. ", "keywords": null }, { "identifier": "Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome.", "acronym": "FAMMMPC.", "accession": "DI-01558", "synonyms": "Melanoma-pancreatic cancer syndrome.; ", "cross_references": "MeSH; D009386.", "definition": "An inherited cancer predisposition syndrome characterized by an increased risk of developing malignant melanoma and/or pancreatic cancer. Mutation carriers within families may develop either or both types of cancer. ", "keywords": null }, { "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 adenomatous polyposis 4.", "acronym": "FAP4.", "accession": "DI-04840", "synonyms": null, "cross_references": "MeSH; D018256.", "definition": "A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. FAP4 inheritance is autosomal recessive. ", "keywords": null }, { "identifier": "Familial adenomatous polyposis 3.", "acronym": "FAP3.", "accession": "DI-04455", "synonyms": null, "cross_references": "MeSH; D018256.", "definition": "A form of familial adenomatous polyposis, a condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. ", "keywords": null }, { "identifier": "Familial adenomatous polyposis 2.", "acronym": "FAP2.", "accession": "DI-01228", "synonyms": "Adenomas multiple colorectal autosomal recessive.; Colorectal adenomatous polyposis autosomal recessive.; ", "cross_references": "MeSH; D018256.", "definition": "A condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. ", "keywords": null }, { "identifier": "Familial adenomatous polyposis 1.", "acronym": "FAP1.", "accession": "DI-01547", "synonyms": "Adenomatous polyposis of the colon.; APC.; Familial polyposis of the colon.; FPC.; ", "cross_references": "MeSH; D011125.", "definition": "An autosomal dominant cancer predisposition syndrome characterized by adenomatous polyps of the colon and rectum, but also of upper gastrointestinal tract (ampullary, duodenal and gastric adenomas). This is a viciously premalignant disease with one or more polyps progressing through dysplasia to malignancy in untreated gene carriers with a median age at diagnosis of 40 years. ", "keywords": null }, { "identifier": "Factor XIII subunit B deficiency.", "acronym": "FA13BD.", "accession": "DI-02829", "synonyms": "F13 deficiency type 1.; Type I F13 deficiency.; ", "cross_references": "MeSH; D005177.", "definition": "An autosomal recessive hematologic disorder characterized by a life- long bleeding tendency, impaired wound healing and spontaneous abortion in affected women. ", "keywords": null } ] }