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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3180&ordering=-synonyms",
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"results": [
{
"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": "Mitochondrial complex I deficiency, nuclear type 7.",
"acronym": "MC1DN7.",
"accession": "DI-05406",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN7 transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Cardiomyopathy, dilated, 1OO.",
"acronym": "CMD1OO.",
"accession": "DI-06603",
"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. CMD1OO inheritance is autosomal dominant. ",
"keywords": "KW-0122:Cardiomyopathy.; "
},
{
"identifier": "Mitochondrial complex IV deficiency, nuclear type 17.",
"acronym": "MC4DN17.",
"accession": "DI-05938",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "An autosomal recessive mitochondrial disorder with highly variable clinical manifestations and severity. Clinical features vary from acute neurometabolic decompensation in late infancy to subtle neurological signs presenting in adolescence. Encephalopathic episodes are characterized by acute loss of developmental milestones including ability to walk or sit, loss of speech, episodes with somnolence and seizure, and pyramidal signs rapidly evolving into spastic tetraparesis. The clinical course subsequently tends to stabilize and in several subjects marked recovery of neurological milestones is observed over time. Brain imaging shows a cavitating leukodystrophy, predominantly involving the posterior cerebral white matter and the corpus callosum in the acute stage, after which the abnormalities partially improve and then stabilize. Patient tissues show variably decreased levels and activity of mitochondrial respiratory complex IV. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex III deficiency, nuclear type 5.",
"acronym": "MC3DN5.",
"accession": "DI-03739",
"synonyms": null,
"cross_references": "MeSH; D017237.",
"definition": "A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Mitochondrial complex I deficiency, nuclear type 8.",
"acronym": "MC1DN8.",
"accession": "DI-05398",
"synonyms": null,
"cross_references": "MeSH; D028361.",
"definition": "A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non- specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN8 transmission pattern is consistent with autosomal recessive inheritance. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Cyanosis transient neonatal.",
"acronym": "TNCY.",
"accession": "DI-03171",
"synonyms": null,
"cross_references": "MeSH; D003490.",
"definition": "A disorder characterized by cyanosis in the fetus and neonate, due to a defect in the fetal hemoglobin chain which has reduced affinity for oxygen. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain is produced and replaces the fetal gamma-globin chain. ",
"keywords": null
},
{
"identifier": "Alternating hemiplegia of childhood 1.",
"acronym": "AHC1.",
"accession": "DI-00084",
"synonyms": null,
"cross_references": "MeSH; D006429.",
"definition": "A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age. ",
"keywords": null
},
{
"identifier": "Cardiomyopathy, dilated, 1P.",
"acronym": "CMD1P.",
"accession": "DI-00222",
"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": "Joubert syndrome 19.",
"acronym": "JBTS19.",
"accession": "DI-03548",
"synonyms": null,
"cross_references": "MeSH; D052177.",
"definition": "A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). JBTS19 patients have polycystic kidney disease, Leber congenital amaurosis, cerebellar vermis hypoplasia, and breathing abnormality. ",
"keywords": "KW-0979:Joubert syndrome.; "
},
{
"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": "Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies.",
"acronym": "MRXSPF.",
"accession": "DI-06258",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A disorder characterized by severe developmental delay with impaired intellectual development and poor speech, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. Additional clinical features may include epilepsy, orthopedic abnormalities, hypotonia, and growth abnormalities. The disorder affects both males and females. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Cardiomyopathy, dilated, 2B.",
"acronym": "CMD2B.",
"accession": "DI-03469",
"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": "Intellectual developmental disorder, X-linked 99, syndromic, female-restricted.",
"acronym": "MRXS99F.",
"accession": "DI-04666",
"synonyms": null,
"cross_references": "MeSH; D038901.",
"definition": "A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning, associated with impairments in adaptive behavior and manifested during the developmental period. MRXS99F affected females manifest intellectual disability, developmental delay, facial dysmorphism, short stature, and distinct congenital malformations comprising choanal atresia, anal abnormalities, post-axial polydactyly, heart defects, hypomastia, cleft palate/bifid uvula, progressive scoliosis, and structural brain abnormalities. Inheritance is X-linked dominant. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 57.",
"acronym": "MRD57.",
"accession": "DI-05289",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD57 is characterized by delayed psychomotor development apparent in infancy or early childhood, and a variety of behavioral abnormalities. Affected individuals may have severe gastro-intestinal problems, and facial dysmorphism. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Inosine triphosphate pyrophosphohydrolase deficiency.",
"acronym": "ITPAD.",
"accession": "DI-01825",
"synonyms": null,
"cross_references": "MeSH; D008661.",
"definition": "A common inherited condition characterized by the abnormal accumulation of inosine triphosphate in erythrocytes. It might have pharmacogenomic implications and be related to increased drug toxicity of purine analog drugs. ",
"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": "Werner syndrome.",
"acronym": "WRN.",
"accession": "DI-01145",
"synonyms": null,
"cross_references": "MeSH; D014898.",
"definition": "A rare autosomal recessive progeroid syndrome characterized by the premature onset of multiple age-related disorders, including atherosclerosis, cancer, non-insulin-dependent diabetes mellitus, ocular cataracts and osteoporosis. The major cause of death, at a median age of 47, is myocardial infarction. ",
"keywords": null
}
]
}