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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5700&ordering=synonyms",
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{
"identifier": "Immunodeficiency 97 with autoinflammation.",
"acronym": "IMD97.",
"accession": "DI-06382",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder with variable features. Affected individuals have childhood-onset antibody defects, cytopenias, and T lymphocytic pneumonitis and colitis. Some patients may have features of hemophagocytic lymphohistiocytosis. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias.",
"acronym": "IMD99.",
"accession": "DI-06402",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by recurrent sinopulmonary infections appearing in early childhood, B- and T-cell lymphopenia, and progressive severe hypogammaglobulinemia with decreased memory B cells. Patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. ",
"keywords": null
},
{
"identifier": "Immunodeficiency due to defect in MAPBP-interacting protein.",
"acronym": "ID-MAPBPIP.",
"accession": "DI-01810",
"synonyms": null,
"cross_references": "MedGen; C1835829.",
"definition": "This form of primary immunodeficiency syndrome includes congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1V.",
"acronym": "CMD1V.",
"accession": "DI-02968",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Immunodeficiency, common variable, 13.",
"acronym": "CVID13.",
"accession": "DI-04688",
"synonyms": null,
"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. CVID13 is an autosomal dominant disease associated with a striking decrease in B-cell numbers. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 14.",
"acronym": "CVID14.",
"accession": "DI-05140",
"synonyms": null,
"cross_references": "MeSH; D017074.",
"definition": "A primary immunodeficiency resulting in recurrent sinopulmonary infections since early childhood, and characterized by hypogammaglobulinemia with undetectable IgG and IgA, poor response to vaccination, and decreased levels of switched memory B cells. CVID14 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 15.",
"acronym": "CVID15.",
"accession": "DI-06822",
"synonyms": null,
"cross_references": "MeSH; D017074.",
"definition": "An autosomal dominant immunologic disorder resulting in recurrent severe infections since early childhood or infancy, and characterized by hypogammaglobulinemia with antibody deficiencies of IgM, IgG, and IgA due to impaired plasma cell homeostasis, although other B cell subset numbers are normal. T and NK cells are also normal. CVID15 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Auditory neuropathy and optic atrophy.",
"acronym": "ANOA.",
"accession": "DI-05116",
"synonyms": null,
"cross_references": "MeSH; D034381.",
"definition": "An autosomal recessive disease characterized by hearing loss, visual impairment and optic atrophy, with onset in the first or second decades of life. Optic atrophy is caused by degeneration of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. ",
"keywords": "KW-0209:Deafness.; KW-0622:Neuropathy.; "
},
{
"identifier": "Attention deficit-hyperactivity disorder 8.",
"acronym": "ADHD8.",
"accession": "DI-06470",
"synonyms": null,
"cross_references": "MeSH; D001289.",
"definition": "A form of attention deficit-hyperactivity disorder, a neurobehavioral developmental condition primarily characterized by the coexistence of attentional problems and hyperactivity, with each feature occurring infrequently alone. ADHD8 is an autosomal recessive form with onset in early childhood, usually by age 3 years. ADHD8 patients may manifest mild developmental delay with autism. ",
"keywords": null
},
{
"identifier": "Attention deficit-hyperactivity disorder 7.",
"acronym": "ADHD7.",
"accession": "DI-02574",
"synonyms": null,
"cross_references": "MeSH; D001289.",
"definition": "A neurobehavioral developmental disorder primarily characterized by the coexistence of attentional problems and hyperactivity, with each behavior occurring infrequently alone. ",
"keywords": null
},
{
"identifier": "Atrioventricular septal defect 5.",
"acronym": "AVSD5.",
"accession": "DI-03369",
"synonyms": null,
"cross_references": "MeSH; D004694.",
"definition": "A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. ",
"keywords": null
},
{
"identifier": "Atrioventricular septal defect 4.",
"acronym": "AVSD4.",
"accession": "DI-03332",
"synonyms": null,
"cross_references": "MeSH; D004694.",
"definition": "A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, common variable, 7.",
"acronym": "CVID7.",
"accession": "DI-03489",
"synonyms": null,
"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": "Immunodeficiency, common variable, 8, with autoimmunity.",
"acronym": "CVID8.",
"accession": "DI-03490",
"synonyms": null,
"cross_references": "MeSH; D017074.",
"definition": "An autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early-childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, developmental delay, and hypohomocysteinemia.",
"acronym": "IMDDHH.",
"accession": "DI-05121",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An early onset multisystem disorder characterized by immunodeficiency, recurrent infections, developmental delay, poor growth, intellectual disability, and hypohomocysteinemia. Some patients manifest congenital cardiac defects. IMDDHH inheritance pattern is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia.",
"acronym": "XMEN.",
"accession": "DI-03201",
"synonyms": null,
"cross_references": "MeSH; D008231.",
"definition": "A disease characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation. ",
"keywords": null
},
{
"identifier": "Atrioventricular septal defect 2.",
"acronym": "AVSD2.",
"accession": "DI-01195",
"synonyms": null,
"cross_references": "MeSH; D004694.",
"definition": "A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. ",
"keywords": null
},
{
"identifier": "Immunodeficiency-centromeric instability-facial anomalies syndrome 2.",
"acronym": "ICF2.",
"accession": "DI-03138",
"synonyms": null,
"cross_references": "MeSH; D043171.",
"definition": "A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. ",
"keywords": null
},
{
"identifier": "Immunodeficiency-centromeric instability-facial anomalies syndrome 3.",
"acronym": "ICF3.",
"accession": "DI-04704",
"synonyms": null,
"cross_references": "MeSH; D043171.",
"definition": "A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. ",
"keywords": null
},
{
"identifier": "Immunodeficiency-centromeric instability-facial anomalies syndrome 4.",
"acronym": "ICF4.",
"accession": "DI-04705",
"synonyms": null,
"cross_references": "MeSH; D043171.",
"definition": "A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. ",
"keywords": null
}
]
}