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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2360&ordering=synonyms",
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"results": [
{
"identifier": "Growth hormone deficiency, isolated, 1B.",
"acronym": "IGHD1B.",
"accession": "DI-03019",
"synonyms": "IGHD IB.; Isolated growth hormone deficiency type IB.; Pituitary dwarfism I.; ",
"cross_references": "MeSH; D004393.",
"definition": "An autosomal recessive deficiency of growth hormone leading to short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.",
"acronym": "IHPRF1.",
"accession": "DI-03902",
"synonyms": "IHPRF.; Infantile neuroaxonal neurodegeneration with facial dysmophism.; INNFD.; ",
"cross_references": "MeSH; D020271.",
"definition": "A neurodegenerative disease characterized by variable degrees of hypotonia, speech impairment, intellectual disability, pyramidal signs, subtle facial dysmorphism, and chronic constipation. Some patients manifest neuroaxonal dystrophy, optic atrophy, unmyelinated axons and spheroid bodies in tissue biopsies. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Immunodeficiency 29.",
"acronym": "IMD29.",
"accession": "DI-04222",
"synonyms": "IL12B deficiency.; Immunodeficiency 29, mycobacteriosis.; ",
"cross_references": "MeSH; D009165.",
"definition": "A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD29 is characterized by undetectable IL12B secretion from leukocytes. Affected individuals generally present with BCG disease after vaccination in childhood, and at least half also have Salmonella infection. Disease phenotype is relatively mild, and patients have a good prognosis. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 30.",
"acronym": "IMD30.",
"accession": "DI-04223",
"synonyms": "IL12RB1 deficiency.; ",
"cross_references": "MeSH; D009165.",
"definition": "A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD30 has low penetrance, and affected individuals have relatively mild disease and good prognosis. BCG disease and salmonellosis are the most frequent infections in IMD30 patients. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 11.",
"acronym": "CVID11.",
"accession": "DI-04080",
"synonyms": "IL21 deficiency.; ",
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. ",
"keywords": null
},
{
"identifier": "Interstitial lung and liver disease.",
"acronym": "ILLD.",
"accession": "DI-03921",
"synonyms": "ILFS2.; Infantile liver failure syndrome 2.; Pulmonary alveolar proteinosis, Reunion island.; ",
"cross_references": "MeSH; D017093.",
"definition": "An autosomal recessive, life-threatening disorder characterized by respiratory insufficiency and progressive liver disease with onset in infancy or early childhood. Clinical features include failure to thrive, hypotonia, intermittent lactic acidosis, aminoaciduria, hypothyroidism, interstitial lung disease, pulmonary alveolar proteinosis, anemia, and liver canalicular cholestasis, steatosis, and iron deposition. ",
"keywords": null
},
{
"identifier": "Epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome.",
"acronym": "JEB7.",
"accession": "DI-03509",
"synonyms": "ILNEB.; Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital.; ",
"cross_references": "MeSH; D017563.",
"definition": "A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. JEB7 is an autosomal recessive form associated with congenital nephrotic syndrome and interstitial lung disease. The respiratory and renal features predominate, and lung involvement accounts for the lethal course of the disease. ",
"keywords": "KW-0263:Epidermolysis bullosa.; "
},
{
"identifier": "Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.",
"acronym": "IMAGE.",
"accession": "DI-03499",
"synonyms": "IMAGE syndrome.; ",
"cross_references": "MeSH; D005317.",
"definition": "A rare condition characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and commenced on steroid replacement therapy. Other reported features in this condition include, hypercalciuria and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis. ",
"keywords": null
},
{
"identifier": "Hatipoglu immunodeficiency syndrome.",
"acronym": "HATIS.",
"accession": "DI-06660",
"synonyms": "IMD111.; Immunodeficiency 111.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder manifesting in infancy or early childhood, and characterized by failure to thrive, short stature, skin pigmentation abnormalities, pancytopenia, and susceptibility to recurrent infections. ",
"keywords": null
},
{
"identifier": "T-cell immunodeficiency with thymic aplasia.",
"acronym": "TIDTA.",
"accession": "DI-05795",
"synonyms": "Immune defect due to absence of thymus.; Nezelof syndrome.; T-lymphocyte deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by selective hypo- or aplasia of the thymus, T-cell immunodeficiency due to impaired T-cell development, and increased susceptibility to viral infections. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 9.",
"acronym": "IMD9.",
"accession": "DI-01021",
"synonyms": "Immune dysfunction with T-cell inactivation due to calcium entry defect 1.; Severe combined immunodeficiency due to CRAC channel dysfunction.; ",
"cross_references": "MeSH; D007153.",
"definition": "An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, and normal lymphocytes counts and serum immunoglobulin levels. In surviving patients ectodermal dysplasia with anhidrosis and non-progressive myopathy may be observed. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 10.",
"acronym": "IMD10.",
"accession": "DI-02551",
"synonyms": "Immune dysfunction with T-cell inactivation due to calcium entry defect 2.; STIM1 deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, lymphadenopathy, and normal lymphocytes counts and serum immunoglobulin levels. Additional features include thrombocytopenia, autoimmune hemolytic anemia, myopathy, partial iris hypoplasia, hepatosplenomegaly and defective enamel dentition. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 117.",
"acronym": "IMD117.",
"accession": "DI-06820",
"synonyms": "Immunodeficiency 117, mycobacteriosis, autosomal recessive.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood, after exposure to weakly virulent mycobacteria. Affected individuals develop mycobacterial disease after BCG (bacille Calmette-Guerin) vaccination. Immunologic workup shows impaired development of myeloid and lymphoid cell subsets that secrete and respond to gamma-interferon. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 118.",
"acronym": "IMD118.",
"accession": "DI-06818",
"synonyms": "Immunodeficiency 118, mycobacteriosis, X-linked recessive.; ",
"cross_references": "MeSH; D007153.",
"definition": "An X-linked recessive disorder characterized by increased susceptibility to disseminated mycobacterial infections in infancy, notably after Bacillus Calmette-Guerin (BCG) vaccination. Initial clinical features include fever, lymphadenopathy, hepatosplenomegaly, abscesses, and osteomyelitis. Affected males usually recover with treatment, have no other infections, and show normal growth and development. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 31A.",
"acronym": "IMD31A.",
"accession": "DI-04224",
"synonyms": "Immunodeficiency 31A, mycobacteriosis, autosomal dominant.; STAT1 deficiency, autosomal dominant.; ",
"cross_references": "MeSH; D009165.",
"definition": "A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD31A has low penetrance, and affected individuals have relatively mild disease and good prognosis. IMD31A confers a predisposition to mycobacterial infections only, with no increased susceptibility to viral infections. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 38, with basal ganglia calcification.",
"acronym": "IMD38.",
"accession": "DI-04280",
"synonyms": "Immunodeficiency 38, mycobacteriosis, autosomal recessive.; ISG15 deficiency, autosomal recessive.; ",
"cross_references": "MeSH; D007153.",
"definition": "A primary immunodeficiency predisposing individuals to severe clinical disease upon infection with weakly virulent mycobacteria, including Mycobacterium bovis Bacille Calmette-Guerin (BCG) vaccines. Patients are also susceptible to Salmonella and Mycobacterium tuberculosis infections. Affected individuals have intracranial calcification. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 50.",
"acronym": "IMD50.",
"accession": "DI-04900",
"synonyms": "Immunodeficiency 50, X-linked recessive.; ",
"cross_references": "MeSH; D007153.",
"definition": "A primary immunodeficiency disorder characterized by onset of recurrent bacterial or varicella zoster virus infections in early childhood, profound lymphopenia, hypogammaglobulinemia, fluctuating monocytopenia and neutropenia, and a poor immune response to vaccine antigens. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 65.",
"acronym": "IMD65.",
"accession": "DI-05684",
"synonyms": "Immunodeficiency 65, susceptibility to viral infections.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by recurrent viral infections from early infancy. Clinical consequences are pneumonia, bronchiectasis, and septic shock. Affected individuals have lymphopenia or hypogammaglobulinemia, particularly during infection, and impaired cellular type I interferon response. Patients may have adverse response to vaccination with live attenuated vaccines. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 7.",
"acronym": "IMD7.",
"accession": "DI-04031",
"synonyms": "Immunodeficiency 7, TCR-alpha/beta deficient.; T-cell receptor-alpha/beta deficiency.; TCR-alpha/beta deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "A primary immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR-gamma/delta, but little or no TCR-alpha/beta. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 86.",
"acronym": "IMD86.",
"accession": "DI-06255",
"synonyms": "Immunodeficiency 86, mycobacteriosis, autosomal recessive.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine. Affected individuals usually develop localized mycobacterial lymphadenopathy. ",
"keywords": null
}
]
}