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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2820&ordering=-synonyms",
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"results": [
{
"identifier": "Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections.",
"acronym": "HIES6.",
"accession": "DI-06771",
"synonyms": null,
"cross_references": "MeSH; D007589.",
"definition": "An immunologic disorder characterized by severe allergic disease with onset in infancy. Common features are treatment-resistant atopic dermatitis, food allergies, asthma, eosinophilic gastrointestinal disease, and severe episodes of anaphylaxis. Half of the patients present with recurrent skin, respiratory, and viral infections. Clinical laboratory testing is notable for eosinophilia and markedly elevated serum IgE levels. ",
"keywords": null
},
{
"identifier": "Alfadhel syndrome.",
"acronym": "AFDL.",
"accession": "DI-06815",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay and regression, intellectual disability, hypotonia, delayed motor development, stereotypy, behavioral abnormalities, and dysmorphic features. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Congenital glucose/galactose malabsorption.",
"acronym": "GGM.",
"accession": "DI-01402",
"synonyms": null,
"cross_references": "MedGen; C0268186.",
"definition": "Intestinal monosaccharide transporter deficiency. It is an autosomal recessive disorder manifesting itself within the first weeks of life. It is characterized by severe diarrhea and dehydration which are usually fatal unless glucose and galactose are eliminated from the diet. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 68.",
"acronym": "MRD68.",
"accession": "DI-06462",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant disorder characterized by developmental delay, intellectual disability, microcephaly, poor growth, feeding difficulties, and dysmorphic features. Some patients may have autism spectrum disorder or attention deficit-hyperactivity disorder. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Congenital heart defects and ectodermal dysplasia.",
"acronym": "CHDED.",
"accession": "DI-04953",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects and variable features of ectodermal dysplasia, including sparse hair, dry skin, thin skin, fragile nails, premature loss of primary teeth, and small widely spaced teeth. Patients manifest developmental disabilities ranging from motor delay and delayed speech to global developmental retardation. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Optic atrophy 14.",
"acronym": "OPA14.",
"accession": "DI-06783",
"synonyms": null,
"cross_references": "MeSH; D015418.",
"definition": "A disease characterized by visual impairment in association with optic atrophy. Atrophy of the optic disk indicates a deficiency in the number of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. OPA14 is an autosomal dominant form characterized by adult-onset progressive reduction in visual acuity, and pale and excavated optic disk. Optical coherence tomography discloses a severe loss of the retinal nerve fiber layer. ",
"keywords": null
},
{
"identifier": "Congenital heart defects and skeletal malformations syndrome.",
"acronym": "CHDSKM.",
"accession": "DI-05064",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "An autosomal dominant disorder characterized by congenital heart disease with atrial and ventricular septal defects, variable skeletal abnormalities, and failure to thrive. Skeletal defects include pectus excavatum, scoliosis, and finger contractures. Some patient exhibit joint laxity. ",
"keywords": null
},
{
"identifier": "Hyperammonemia due to carbonic anhydrase VA deficiency.",
"acronym": "CA5AD.",
"accession": "DI-04105",
"synonyms": null,
"cross_references": "MeSH; D022124.",
"definition": "An autosomal recessive inborn error of metabolism, clinically characterized by infantile hyperammonemic encephalopathy. Metabolic abnormalities include hypoglycemia, hyperlactatemia, metabolic acidosis and respiratory alkalosis. ",
"keywords": null
},
{
"identifier": "Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.",
"acronym": "CHDFIDD.",
"accession": "DI-04952",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "An autosomal dominant syndrome characterized by atrial and/or ventricular septal congenital heart defects, facial dysmorphism with hypertelorism, upslanted palpebral fissures, epicanthal folds, ptosis, strabismus, posteriorly rotated ears, thin upper lip, and small mouth. Patients manifest global developmental delay, delayed walking and speech acquisition, and intellectual disability. Some patients have mild microcephaly, a small cerebral cortex, and agenesis of corpus callosum. More variable features include clinodactyly and/or camptodactyly of the fingers, hypotonia, and joint hypermobility. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Myopia 27, autosomal dominant.",
"acronym": "MYP27.",
"accession": "DI-05775",
"synonyms": null,
"cross_references": "MeSH; D009216.",
"definition": "A form of myopia, a refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. MYP27 patients are affected by early-onset high myopia with increased axial lengths. Fundus changes include optic nerve head crescent and tigroid appearance of the posterior retina. ",
"keywords": null
},
{
"identifier": "Congenital heart defects, hamartomas of tongue, and polysyndactyly.",
"acronym": "CHDTHP.",
"accession": "DI-04320",
"synonyms": null,
"cross_references": "MeSH; D013576.",
"definition": "A disease characterized by a constellation of anomalies including tongue hamartomas, polysyndactyly, and congenital heart defects such as atrioventricular canal and coarctation of the aorta. ",
"keywords": null
},
{
"identifier": "Hypercalcemia, infantile, 2.",
"acronym": "HCINF2.",
"accession": "DI-04726",
"synonyms": null,
"cross_references": "MeSH; D006934.",
"definition": "An autosomal recessive form of hypercalcemia, a disorder characterized by abnormally high level of calcium in the blood, failure to thrive, vomiting, dehydration, and nephrocalcinosis. ",
"keywords": null
},
{
"identifier": "Myopia 26, X-linked, female-limited.",
"acronym": "MYP26.",
"accession": "DI-05150",
"synonyms": null,
"cross_references": "MeSH; D009216.",
"definition": "A form of myopia, a refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. MYP26 is characterized by typical tigroid fundus changes commonly seen in early onset high myopia, and an unusual pattern of X-linked female-limited inheritance. ",
"keywords": null
},
{
"identifier": "Myopathy, distal, Tateyama type.",
"acronym": "MPDT.",
"accession": "DI-03297",
"synonyms": null,
"cross_references": "MeSH; D049310.",
"definition": "A disorder characterized by progressive muscular atrophy and muscle weakness beginning in the hands, the legs, or the feet. Muscle atrophy may be restricted to the small muscles of the hands and feet. ",
"keywords": null
},
{
"identifier": "Hyperchlorhidrosis, isolated.",
"acronym": "HYCHL.",
"accession": "DI-03013",
"synonyms": null,
"cross_references": "MeSH; D006945.",
"definition": "An autosomal recessive disorder characterized by excessive sweating and increased sweat chloride levels. Affected individuals suffer from episodes of hyponatremic dehydration and report increased amounts of visible salt precipitates in sweat. ",
"keywords": null
},
{
"identifier": "Maternal acute fatty liver of pregnancy.",
"acronym": "AFLP.",
"accession": "DI-01942",
"synonyms": null,
"cross_references": "MIM; 609016; phenotype.",
"definition": "Severe maternal illness occurring during pregnancies with affected fetuses. This disease is associated with LCHAD deficiency and characterized by sudden unexplained infant death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome). ",
"keywords": null
},
{
"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": "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": "Intellectual developmental disorder with seizures and language delay.",
"acronym": "IDDSELD.",
"accession": "DI-05906",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by mild to profound intellectual development impairment, speech and language delay, and seizures. Autism and anxiety are common features. Facial dysmorphism, tapering fingers, and pigmentary skin changes may also be observed. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Spastic paraplegia 30.",
"acronym": "SPG30.",
"accession": "DI-03243",
"synonyms": null,
"cross_references": "MeSH; D015419.",
"definition": "A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG30 patients have a pure form of the disorder, limited to spastic paraplegia, whereas others may have a complicated form that includes additional features such as cognitive dysfunction, learning disabilities, peripheral sensorimotor neuropathy, urinary sphincter problems, and/or cerebellar atrophy. SPG30 is characterized by onset in the first or second decades of unsteady spastic gait and hyperreflexia of the lower limbs. Inheritance can be autosomal dominant or autosomal recessive. ",
"keywords": "KW-0890:Hereditary spastic paraplegia.; "
}
]
}