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"count": 6723,
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"results": [
{
"identifier": "Factor XI deficiency.",
"acronym": "FA11D.",
"accession": "DI-01542",
"synonyms": "F11 deficiency.; Factor 11 deficiency.; Hemophilia C.; Plasma thromboplastin antecedent deficiency.; PTA deficiency.; Rosenthal factor deficiency.; Rosenthal syndrome.; ",
"cross_references": "MeSH; D005173.",
"definition": "A hemorrhagic disease characterized by reduced levels and activity of factor XI resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. Patients usually do not present spontaneous bleeding but women can present with menorrhagia. Hemorrhages are usually moderate. ",
"keywords": null
},
{
"identifier": "Factor XII deficiency.",
"acronym": "FA12D.",
"accession": "DI-00487",
"synonyms": "HAF deficiency.; Hageman factor deficiency.; ",
"cross_references": "MeSH; D005175.",
"definition": "An asymptomatic anomaly of in vitro blood coagulation. Its diagnosis is based on finding a low plasma activity of the factor in coagulating assays. It is usually only accidentally discovered through pre- operative blood tests. Factor XII deficiency is divided into two categories, a cross-reacting material (CRM)-negative group (negative F12 antigen detection) and a CRM-positive group (positive F12 antigen detection). ",
"keywords": null
},
{
"identifier": "Factor XIII subunit A deficiency.",
"acronym": "FA13AD.",
"accession": "DI-01543",
"synonyms": "F13 deficiency type 2.; Type II 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
},
{
"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
},
{
"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": "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 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 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 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 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 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 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 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 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 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 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 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.; "
}
]
}