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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1620&ordering=-synonyms",
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"results": [
{
"identifier": "Cardiomyopathy, dilated, 2I.",
"acronym": "CMD2I.",
"accession": "DI-06740",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2I is an autosomal recessive, severe form characterized by onset in infancy or childhood. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Deafness and myopia.",
"acronym": "DFNMYP.",
"accession": "DI-03969",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "An autosomal recessive disorder characterized by prelingual sensorineural hearing loss associated with high myopia. ",
"keywords": "KW-0209:Deafness.; "
},
{
"identifier": "Cardiomyopathy, dilated, 2J.",
"acronym": "CMD2J.",
"accession": "DI-06798",
"synonyms": null,
"cross_references": "MeSH; D002311.",
"definition": "A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2J is an autosomal recessive form characterized by onset of heart failure within the first year of life. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Deafness, autosomal dominant, 87.",
"acronym": "DFNA87.",
"accession": "DI-06615",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic, sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA87 is characterized by prelingual, profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Focal cortical dysplasia of Taylor balloon cell type.",
"acronym": "FCDBC.",
"accession": "DI-01618",
"synonyms": null,
"cross_references": "MedGen; C1846389.",
"definition": "Subtype of cortical dysplasias linked to chronic intractable epilepsy. Cortical dysplasias display a broad spectrum of structural changes, which appear to result from changes in proliferation, migration, differentiation, and apoptosis of neuronal precursors and neurons during cortical development. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy.",
"acronym": "DFNHCM.",
"accession": "DI-01013",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "An autosomal dominant sensorineural deafness associated with hypertrophic cardiomyopathy. ",
"keywords": "KW-0122:Cardiomyopathy.; KW-0209:Deafness.; "
},
{
"identifier": "Hydrolethalus syndrome 2.",
"acronym": "HLS2.",
"accession": "DI-03208",
"synonyms": null,
"cross_references": "MeSH; D006849.",
"definition": "An embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Immunodeficiency 119.",
"acronym": "IMD119.",
"accession": "DI-06903",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by childhood-onset of recurrent respiratory tract infections, susceptibility to chronic DNA-based viral infections, hypogammaglobulinemia, and panlymphopenia. ",
"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": "Episodic pain syndrome, familial, 1.",
"acronym": "FEPS1.",
"accession": "DI-03683",
"synonyms": null,
"cross_references": "MeSH; D010146.",
"definition": "An autosomal dominant neurologic disorder characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress. The period of intense pain is accompanied by breathing difficulties, tachycardia, sweating, generalized pallor, peribuccal cyanosis, and stiffness of the abdominal wall. Affected individuals do not manifest altered pain sensitivity outside the episodes. ",
"keywords": null
},
{
"identifier": "Deafness, autosomal dominant, 15.",
"acronym": "DFNA15.",
"accession": "DI-00844",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic hearing loss with variable phenotype in terms of age at onset, levels of progression, and shape of audiograms. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis.",
"acronym": "DCWHKTA.",
"accession": "DI-04267",
"synonyms": null,
"cross_references": "MeSH; D007645.",
"definition": "A cardiocutaneous syndrome characterized by biventricular dilated cardiomyopathy, hyperkeratosis, woolly hair, palmoplantar keratoderma, and hypo/oligodontia. ",
"keywords": "KW-0122:Cardiomyopathy.; KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Asthma-related traits 1.",
"acronym": "ASRT1.",
"accession": "DI-02869",
"synonyms": null,
"cross_references": "MeSH; D001249.",
"definition": "Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. ",
"keywords": "KW-1058:Asthma.; "
},
{
"identifier": "Deafness, autosomal dominant, 21.",
"acronym": "DFNA21.",
"accession": "DI-06409",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA21 is an autosomal dominant, progressive form with incomplete penetrance. Age at onset ranges from infancy to late adulthood. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "High molecular weight kininogen deficiency.",
"acronym": "HMWK deficiency.",
"accession": "DI-01744",
"synonyms": null,
"cross_references": "MedGen; C2673572.",
"definition": "Autosomal recessive coagulation defect. Patients with HWMK deficiency do not have a hemorrhagic tendency, but they exhibit abnormal surface- mediated activation of fibrinolysis. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, familial hypertrophic, 1.",
"acronym": "CMH1.",
"accession": "DI-00233",
"synonyms": null,
"cross_references": "MeSH; D024741.",
"definition": "A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Deafness, autosomal dominant, 23.",
"acronym": "DFNA23.",
"accession": "DI-01205",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by prelingual, bilateral, symmetric hearing loss with a conductive component present in some but not all patients. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Asthma-related traits 2.",
"acronym": "ASRT2.",
"accession": "DI-02880",
"synonyms": null,
"cross_references": "MeSH; D001249.",
"definition": "Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, dyspnea, bronchial hyperresponsiveness as assessed by methacholine challenge test, serum IgE levels, atopy and atopic dermatitis. ",
"keywords": "KW-1058:Asthma.; "
},
{
"identifier": "Deafness, autosomal dominant, 27.",
"acronym": "DFNA27.",
"accession": "DI-05689",
"synonyms": null,
"cross_references": "MeSH; D006319.",
"definition": "A form of non-syndromic deafness characterized by postlingual, progressive, moderate to profound sensorineural hearing loss. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Lactate dehydrogenase B deficiency.",
"acronym": "LDHBD.",
"accession": "DI-04441",
"synonyms": null,
"cross_references": "MedGen; C3279904.",
"definition": "A condition with no deleterious effects on health. LDHBD is of interest to laboratory medicine mainly because it can cause misdiagnosis in those disorders in which elevation of serum LDH is expected. ",
"keywords": null
}
]
}