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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2340&ordering=-synonyms",
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"results": [
{
"identifier": "Cleft palate, psychomotor retardation, and distinctive facial features.",
"acronym": "CPRF.",
"accession": "DI-04622",
"synonyms": null,
"cross_references": "MeSH; D002972.",
"definition": "A syndrome characterized by cleft palate, developmental delay, psychomotor retardation, and facial dysmorphic features including a prominent forehead, slightly arched eyebrows, elongated palpebral fissures, a wide nasal bridge, thin lips, and widely spaced teeth. Cleft palate is a congenital fissure of the soft and/or hard palate, due to faulty fusion. ",
"keywords": null
},
{
"identifier": "Basel-Vanagaite-Smirin-Yosef syndrome.",
"acronym": "BVSYS.",
"accession": "DI-04474",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by eye, brain, cardiac and palatal abnormalities as well as growth retardation, microcephaly and severe intellectual disability. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"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": "Anemia, hypochromic microcytic, with iron overload 2.",
"acronym": "AHMIO2.",
"accession": "DI-03728",
"synonyms": null,
"cross_references": "MeSH; D000747.",
"definition": "A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size, severe anemia, erythropoietic hyperplasia of bone marrow, massive hepatic iron deposition, and hepatosplenomegaly. ",
"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": "Atransferrinemia.",
"acronym": "ATRAF.",
"accession": "DI-00145",
"synonyms": null,
"cross_references": "MeSH; D008664.",
"definition": "A rare autosomal recessive disorder characterized by abnormal synthesis of transferrin leading to iron overload and microcytic hypochromic anemia. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 43.",
"acronym": "MRD43.",
"accession": "DI-04747",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD43 patients manifest developmental delay, intellectual disability, hypotonia, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"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": "COACH syndrome 3.",
"acronym": "COACH3.",
"accession": "DI-05979",
"synonyms": null,
"cross_references": "MeSH; D008107.",
"definition": "A form of COACH syndrome, a disorder characterized by cerebellar vermis hypoplasia, developmental delay, impaired intellectual development, ataxia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. COACH3 inheritance is autosomal recessive. ",
"keywords": "KW-0979:Joubert syndrome.; KW-1186:Ciliopathy.; "
},
{
"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": "Anemia, non-spherocytic hemolytic, due to G6PD deficiency.",
"acronym": "NSHA.",
"accession": "DI-01351",
"synonyms": null,
"cross_references": "MeSH; D000746.",
"definition": "A disease characterized by G6PD deficiency, acute hemolytic anemia, fatigue, back pain, and jaundice. In most patients, the disease is triggered by an exogenous agent, such as some drugs, food, or infection. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. Although G6PD deficiency can be life-threatening, most patients are asymptomatic throughout their life. ",
"keywords": "KW-0360:Hereditary hemolytic anemia.; "
},
{
"identifier": "Immunodeficiency 92.",
"acronym": "IMD92.",
"accession": "DI-06291",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by recurrent bacterial, viral, fungal, or parasitic infections appearing in infancy or early childhood. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. ",
"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": "Beaulieu-Boycott-Innes syndrome.",
"acronym": "BBIS.",
"accession": "DI-03901",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by delayed development, moderate intellectual disability, and dysmorphic facial features. Other developmental anomalies, such as cardiac and renal defects, may also occur. ",
"keywords": null
},
{
"identifier": "Nystagmus 8, congenital, autosomal recessive.",
"acronym": "NYS8.",
"accession": "DI-06638",
"synonyms": null,
"cross_references": "MeSH; D020417.",
"definition": "A form of nystagmus, a condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. NYS8 patients manifest bilateral horizontal nystagmus in the absence of other neurologic signs or symptoms. Brain imaging is normal. ",
"keywords": null
}
]
}