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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=500",
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"results": [
{
"identifier": "Autoimmune thyroid disease 3.",
"acronym": "AITD3.",
"accession": "DI-02878",
"synonyms": null,
"cross_references": "MeSH; D013967.",
"definition": "A complex autoimmune disorder comprising two related diseases affecting the thyroid: Graves disease and Hashimoto thyroiditis. In both disorders, thyroid-reactive T-cells are formed and infiltrate the thyroid gland. In Graves disease, the majority of the T-cells undergo a Th2 differentiation and activate B-cells to produce antibodies against the TSH receptor, which stimulate the thyroid and cause clinical hyperthyroidism. In contrast, Hashimoto thyroiditis is characterized by Th1 switching of the thyroid-infiltrating T-cells, which induces apoptosis of thyroid follicular cells and clinical hypothyroidism. ",
"keywords": null
},
{
"identifier": "Autoinflammation, antibody deficiency, and immune dysregulation.",
"acronym": "APLAID.",
"accession": "DI-03601",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies. ",
"keywords": null
},
{
"identifier": "Autoinflammation, immune dysregulation, and eosinophilia.",
"acronym": "AIIDE.",
"accession": "DI-05905",
"synonyms": "Atopic dermatitis, enteritis, colitis, and eosinophilia.; ",
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant disorder characterized by immune dysregulation, severe atopic dermatitis, and chronic gastrointestinal inflammation. Additional features include asthma, food or environmental allergies, as well as poor overall growth with short stature. ",
"keywords": null
},
{
"identifier": "Autoinflammation, panniculitis, and dermatosis syndrome.",
"acronym": "AIPDS.",
"accession": "DI-04791",
"synonyms": "ORAS.; Otulin-related autoinflammatory syndrome.; Otulipenia.; ",
"cross_references": "MeSH; D056660.",
"definition": "An autosomal recessive autoinflammatory disorder characterized by neonatal-onset of fever, neutrophilic dermatitis, panniculitis, painful joints, failure to thrive. Patients do not exhibit overt primary immunodeficiency. ",
"keywords": null
},
{
"identifier": "Autoinflammation with arthritis and dyskeratosis.",
"acronym": "AIADK.",
"accession": "DI-04967",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "A disorder characterized by recurrent fever, diffuse skin dyskeratosis, autoinflammation, autoimmunity, arthritis and high transitional B-cell level. Inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": null
},
{
"identifier": "Autoinflammation with episodic fever and immune dysregulation.",
"acronym": "AIFID.",
"accession": "DI-06889",
"synonyms": "Sharpenia.; ",
"cross_references": "MeSH; D056660.",
"definition": "An autosomal recessive disorder characterized by recurrent fever and autoinflammation with onset in infancy or early childhood. Variable clinical manifestations include lymphadenopathy, hepatosplenomegaly, gastrointestinal inflammation, polyarthritis and joint inflammation, parotitis, and immune dysregulation. ",
"keywords": null
},
{
"identifier": "Autoinflammation with episodic fever and lymphadenopathy.",
"acronym": "AIEFL.",
"accession": "DI-05817",
"synonyms": "Cleavage-resistant RIPK1-induced autoinflammatory syndrome.; CRIA syndrome.; ",
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant immunologic disorder characterized by early onset of recurrent episodes of unexplained fever, lymphadenopathy, hepatosplenomegaly, and increased levels of inflammatory cytokines and chemokines in patient serum. ",
"keywords": null
},
{
"identifier": "Autoinflammation with infantile enterocolitis.",
"acronym": "AIFEC.",
"accession": "DI-04246",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant disorder characterized by neonatal-onset enterocolitis, periodic fever, and fatal or near-fatal episodes of autoinflammation. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy, recurrent febrile episodes with splenomegaly, and sometimes hematologic disturbances, arthralgias, or myalgias. ",
"keywords": null
},
{
"identifier": "Autoinflammation with pulmonary and cutaneous vasculitis.",
"acronym": "AIPCV.",
"accession": "DI-06633",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant disorder characterized by cutaneous vasculitis and chronic pulmonary inflammation that evolves to fibrosis. AIPCV manifests soon after birth with petechial skin lesions, followed by progressive pulmonary involvement causing restrictive lung disease and respiratory insufficiency. ",
"keywords": null
},
{
"identifier": "Autoinflammatory disease, familial, Behcet-like 3.",
"acronym": "AIFBL3.",
"accession": "DI-05466",
"synonyms": "CMCU.; Mucocutaneous ulceration, chronic.; ",
"cross_references": "MeSH; D012883.",
"definition": "An autosomal dominant, mucocutaneous disease characterized by chronic mucosal lesions, in absence of recurrent infections. ",
"keywords": null
},
{
"identifier": "Autoinflammatory disease, multisystem, with immune dysregulation, X-linked.",
"acronym": "ADMIDX.",
"accession": "DI-06712",
"synonyms": "DOCK11 deficiency.; ",
"cross_references": "MeSH; D001327.",
"definition": "An X-linked recessive disorder apparent in infancy or early childhood, and characterized by immune dysregulation, variable cytopenias, and systemic or organ-specific autoinflammatory manifestations. Clinical features include systemic lupus erythematosus, panniculitis, inflammatory bowel disease, pulmonary disease, or arthritis associated with recurrent fever, leukocytosis, lymphoproliferation, and hepatosplenomegaly in the absence of an infectious agent. Death in childhood has been reported. ",
"keywords": null
},
{
"identifier": "Autoinflammatory disease, systemic, with vasculitis.",
"acronym": "SAIDV.",
"accession": "DI-06688",
"synonyms": "LAVLI syndrome.; ",
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant disorder characterized by systemic autoinflammation manifesting in the first hours of life with diffuse purpuric skin lesions, fever, hepatosplenomegaly, and increased C- reactive protein. Additional clinical features include periorbital edema, conjunctivitis, urticaria, atopic dermatitis, abdominal pain, and arthralgia. Laboratory studies may show leukocytosis, thrombocytopenia, and autoantibodies. ",
"keywords": null
},
{
"identifier": "Autoinflammatory disease, systemic, X-linked.",
"acronym": "SAIDX.",
"accession": "DI-06411",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An X-linked disorder characterized by systemic autoinflammation appearing in the first months of life. Clinical manifestations are variable, including lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional features may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. ",
"keywords": null
},
{
"identifier": "Autoinflammatory-pancytopenia syndrome.",
"acronym": "AIPCS.",
"accession": "DI-06407",
"synonyms": null,
"cross_references": "MeSH; D010198.",
"definition": "An autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Additional systemic features may include chronic diarrhea, proteinuria with renal disease, liver fibrosis with elevated liver enzymes, deforming arthropathy, and vasculitic skin lesions. Some patients may have motor delay or learning difficulties associated with subcortical white matter lesions on brain imaging. ",
"keywords": null
},
{
"identifier": "Autoinflammatory syndrome, familial, Behcet-like 1.",
"acronym": "AIFBL1.",
"accession": "DI-04635",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant, autoinflammatory disorder with early onset, characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas. Additional variable features include skin rash, uveitis, and polyarthritis. ",
"keywords": null
},
{
"identifier": "Autoinflammatory syndrome, familial, with or without immunodeficiency.",
"acronym": "AISIMD.",
"accession": "DI-06141",
"synonyms": null,
"cross_references": "MeSH; D056660.",
"definition": "An autosomal dominant, autoinflammatory disorder with incomplete penetrance characterized by autoimmune cytopenia, hemolytic anemia, thrombocytopenia, and lymphadenopathy. Additional variable features may include autoimmune thyroiditis, psoriasis or eczema, nephritis, hepatitis, and symptoms of systemic lupus erythematosus. Immunodeficiency is present in some patients. Disease onset is usually in the first decades of life, although later onset has been reported. ",
"keywords": null
},
{
"identifier": "Autoinflammatory syndrome, familial, X-linked, Behcet-like 2.",
"acronym": "AIFBL2.",
"accession": "DI-06377",
"synonyms": "Deficiency in ELF4, X-linked.; DEX.; ",
"cross_references": "MeSH; D056660.",
"definition": "An X-linked recessive, autoinflammatory disorder characterized by ulceration of the oral mucosa and skin inflammation. Additional variable features may include gastrointestinal ulceration, arthritis, recurrent fevers, and iron deficiency anemia. Disease onset is in early childhood. ",
"keywords": null
},
{
"identifier": "Avascular necrosis of femoral head, primary, 1.",
"acronym": "ANFH1.",
"accession": "DI-02197",
"synonyms": "Aseptic necrosis of femoral head.; Avascular necrosis of femoral head.; Ischemic necrosis of femoral head.; Osteonecrosis of femoral head.; ",
"cross_references": "MeSH; D005271.",
"definition": "A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. ANFH1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Avascular necrosis of the femoral head, primary 2.",
"acronym": "ANFH2.",
"accession": "DI-04965",
"synonyms": null,
"cross_references": "MeSH; D005271.",
"definition": "A disease characterized by mechanical failure of the subchondral bone, and degeneration of the hip joint. It usually leads to destruction of the hip joint in the third to fifth decade of life. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. ",
"keywords": null
},
{
"identifier": "Axenfeld-Rieger syndrome 1.",
"acronym": "RIEG1.",
"accession": "DI-01265",
"synonyms": "Iridogoniodysgenesis with somatic anomalies.; RGS.; RIEG.; Rieger syndrome type 1.; ",
"cross_references": "MeSH; D005124.",
"definition": "An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Additional features include aniridia, maxillary hypoplasia, hypodontia, anal stenosis, redundant periumbilical skin. ",
"keywords": null
}
]
}