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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3140&ordering=-synonyms",
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"results": [
{
"identifier": "Immunodeficiency 64 with lymphoproliferation.",
"acronym": "IMD64.",
"accession": "DI-05632",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency characterized by recurrent bacterial, viral and fungal infections, variably decreased numbers of T cells, deficiencies of B and NK cells, and increased susceptibility to Epstein-Barr virus (EBV) infection. Patients may develop lymphoproliferation or EBV-associated lymphoma. Some patients may develop features of autoimmunity. ",
"keywords": null
},
{
"identifier": "Crisponi/Cold-induced sweating syndrome 2.",
"acronym": "CISS2.",
"accession": "DI-01357",
"synonyms": null,
"cross_references": "MeSH; D006945.",
"definition": "An autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. These features are referred to as Crisponi syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 66.",
"acronym": "IMD66.",
"accession": "DI-05815",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunologic disorder characterized by recurrent viral infections from infancy, associated with impaired neutrophil migration due to defects in cytoskeletal actin dynamics. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1II.",
"acronym": "CMD1II.",
"accession": "DI-03750",
"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": "Crouzon syndrome with acanthosis nigricans.",
"acronym": "CAN.",
"accession": "DI-01453",
"synonyms": null,
"cross_references": "MedGen; C2677099.",
"definition": "Classic Crouzon disease which is caused by mutations in the FGFR2 gene is characterized by craniosynostosis (premature fusion of the skull sutures), and facial hypoplasia. Crouzon syndrome with acanthosis nigricans (a skin disorder characterized by pigmentation anomalies), CAN, is considered to be an independent disorder from classic Crouzon syndrome. CAN is characterized by additional more severe physical manifestation, such as Chiari malformation, hydrocephalus, and atresia or stenosis of the choanas, and is caused by a specific mutation (Ala- 391 to Glu) in the transmembrane domain of FGFR3. It is proposed to have an autosomal dominant mode of inheritance. ",
"keywords": null
},
{
"identifier": "Leukodystrophy, hypomyelinating, 17.",
"acronym": "HLD17.",
"accession": "DI-05268",
"synonyms": null,
"cross_references": "MeSH; D020279.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by atrophy of cerebral cortex, spinal cord and cerebellum, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination observed on brain imaging. Clinical manifestations include lack of development, absent speech, microcephaly, spasticity, seizures, and contractures. ",
"keywords": "KW-1026:Leukodystrophy.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1S.",
"acronym": "CMD1S.",
"accession": "DI-00224",
"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 70.",
"acronym": "IMD70.",
"accession": "DI-05887",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A primary immunodeficiency clinically characterized by human papillomavirus-associated warts on the hands, feet and face, recurrent bacterial infections, and autoinflammatory features, such as colitis, celiac disease, and retinal vasculitis. Immunologic workup shows decreased CD4+ T cells, decreased CD19+ B cells, and hypogammaglobulinemia. IMD70 inheritance is autosomal dominant with incomplete penetrance. ",
"keywords": null
},
{
"identifier": "Mirror movements 2.",
"acronym": "MRMV2.",
"accession": "DI-03399",
"synonyms": null,
"cross_references": "MeSH; D020820.",
"definition": "A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 72 with autoinflammation and lymphoproliferation.",
"acronym": "IMD72.",
"accession": "DI-05896",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by onset in the first year of life, recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis, and poor specific antibody responses. Patients also exhibit atopic and inflammatory disease alongside chronic hepatosplenomegaly, lymphoproliferation and lymphadenopathy, and autoimmune manifestations. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1JJ.",
"acronym": "CMD1JJ.",
"accession": "DI-03729",
"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 73B with defective neutrophil chemotaxis and lymphopenia.",
"acronym": "IMD73B.",
"accession": "DI-05898",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant immunologic disorder characterized by respiratory infections, cellulitis, severe invasive infections, B- and T-cell lymphopenia, and impaired neutrophil chemotaxis. Disease onset is in infancy or early childhood. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia.",
"acronym": "IMD73C.",
"accession": "DI-05899",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by recurrent respiratory infections, decreased B cells, hypogammaglobulinemia, and impaired neutrophil chemotaxis. Variable features are urticaria, recurrent erythematous plaques, food allergy, arthralgia, bronchiectasis, and lymphadenopathy. In addition, patients suffer from glomerulonephritis, coagulopathy, multiple hormone deficiencies, and abnormalities of neutrophil granules. ",
"keywords": null
},
{
"identifier": "Renal hypodysplasia/aplasia 2.",
"acronym": "RHDA2.",
"accession": "DI-04110",
"synonyms": null,
"cross_references": "MeSH; D007674.",
"definition": "A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 75 with lymphoproliferation.",
"acronym": "IMD75.",
"accession": "DI-05992",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by recurrent infections, mainly viral and affecting the respiratory tract, immunodeficieny, immune dysregulation, and the development of lymphoproliferative disorders, including lymphoma. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 76.",
"acronym": "IMD76.",
"accession": "DI-06026",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by onset of recurrent bacterial, viral, and fungal infections in early childhood. Affected individuals have T-cell lymphopenia and variable B-cell or immunoglobulin abnormalities. Some patients develop B-cell lymphoma, others manifest neurologic features. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 77.",
"acronym": "IMD77.",
"accession": "DI-06056",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant disorder characterized by recurrent, persistent bacterial and fungal infections with multiple unusual organisms. Skin and pulmonary infections are the most common. Patient macrophages show impaired killing of intracellular bacteria and organisms, including non-tubercular mycobacteria, Pseudomonas, Candida, and Aspergillus. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 78 with autoimmunity and developmental delay.",
"acronym": "IMD78.",
"accession": "DI-06055",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by immune dysregulation, increased susceptibility to bacterial, viral and fungal infections, recurrent sinopulmonary or skin infections, and autoimmune abnormalities including hemolytic anemia and autoimmune cytopenias. Patients also have global developmental delay with speech delay and variable intellectual disability. Disease onset is in infancy or early childhood. ",
"keywords": null
},
{
"identifier": "Cutaneous telangiectasia and cancer syndrome, familial.",
"acronym": "FCTCS.",
"accession": "DI-03427",
"synonyms": null,
"cross_references": "MeSH; D013684.",
"definition": "A disease characterized by cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well. ",
"keywords": null
},
{
"identifier": "UV-sensitive syndrome 3.",
"acronym": "UVSS3.",
"accession": "DI-03444",
"synonyms": null,
"cross_references": "MeSH; D052245.",
"definition": "An autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. ",
"keywords": null
}
]
}