HTTP 200 OK
Allow: GET, POST, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1420&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1380&ordering=-synonyms",
"results": [
{
"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": "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": "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": "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": "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": "Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type.",
"acronym": "ECTD12.",
"accession": "DI-04948",
"synonyms": null,
"cross_references": "MeSH; D004476.",
"definition": "A form of ectodermal dysplasia, a disorder due to abnormal development of two or more ectodermal structures. ECTD12 is an autosomal dominant, hypohidrotic form characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth, and the inability to sweat due to defective development of sweat glands. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Gastrointestinal stromal tumor.",
"acronym": "GIST.",
"accession": "DI-01646",
"synonyms": null,
"cross_references": "MeSH; D046152.",
"definition": "Common mesenchymal neoplasms arising in the gastrointestinal tract, most often in the stomach. They are histologically, immunohistochemically, and genetically different from typical leiomyomas, leiomyosarcomas, and schwannomas. Most GISTs are composed of a fairly uniform population of spindle-shaped cells. Some tumors are dominated by epithelioid cells or contain a mixture of spindle and epithelioid morphologies. Primary GISTs in the gastrointestinal tract commonly metastasize in the omentum and mesenteries, often as multiple nodules. However, primary tumors may also occur outside of the gastrointestinal tract, in other intra-abdominal locations, especially in the omentum and mesentery. ",
"keywords": null
},
{
"identifier": "Epileptic encephalopathy, infantile or early childhood, 3.",
"acronym": "IECEE3.",
"accession": "DI-05273",
"synonyms": null,
"cross_references": "MeSH; D013036.",
"definition": "A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. IECEE3 is an autosomal dominant form characterized by onset of seizures in the first years of life.The severity of the phenotype is highly variable: some patients may be non-verbal and non- ambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Deafness, autosomal dominant, 65.",
"acronym": "DFNA65.",
"accession": "DI-04244",
"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. DFNA65 is characterized by postlingual onset of slowly progressive hearing loss in the third decade. Initially affecting the high frequencies, the hearing loss eventually affects all frequencies and results in severe to profound deafness in the seventh decade. Vestibular function is normal. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Congenital heart defects, multiple types, 7.",
"acronym": "CHTD7.",
"accession": "DI-05764",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "An autosomal dominant disorder with incomplete penetrance characterized by congenital developmental abnormalities involving structures of the heart. Common defects include tetralogy of Fallot, pulmonary stenosis or atresia, absent pulmonary valve, right aortic arch, double aortic arch, and major aortopulmonary collateral arteries. ",
"keywords": null
},
{
"identifier": "Congenital heart defects, multiple types, 8, with or without heterotaxy.",
"acronym": "CHTD8.",
"accession": "DI-06292",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "An autosomal dominant disorder characterized by congenital developmental abnormalities involving structures of the heart. Common CHTD8 features include double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies. Vascular anomalies include dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect. Patients may also exhibit laterality defects, including dextrocardia, atrial isomerism, dextrogastria, left-sided gallbladder, and intestinal malrotation. ",
"keywords": "KW-1056:Heterotaxy.; "
},
{
"identifier": "Congenital heart defects, multiple types, 9.",
"acronym": "CHTD9.",
"accession": "DI-06632",
"synonyms": null,
"cross_references": "MeSH; D006330.",
"definition": "An autosomal recessive disorder characterized by congenital developmental abnormalities involving structures of the heart. CHTD9 features include common arterial trunk, tetralogy of Fallot, interrupted aortic arch, right aortic arch, ventricular hypoplasia, and hypoplastic left heart, as well as other vascular and valvular anomalies. ",
"keywords": null
},
{
"identifier": "Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.",
"acronym": "CHILD.",
"accession": "DI-00357",
"synonyms": null,
"cross_references": "MeSH; D017880.",
"definition": "An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis. ",
"keywords": "KW-0977:Ichthyosis.; "
},
{
"identifier": "Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.",
"acronym": "CHEDDA.",
"accession": "DI-05610",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental syndrome characterized by severe global developmental delay, impaired intellectual development, poor or absent language, significant motor disability with inability to walk, dysmorphic facial features, skeletal anomalies, and variable congenital malformations. Most patients also have seizures and structural brain abnormalities. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Alkuraya-Kucinskas syndrome.",
"acronym": "ALKKUCS.",
"accession": "DI-05169",
"synonyms": null,
"cross_references": "MeSH; D009421.",
"definition": "An autosomal recessive syndrome characterized by brain atrophy and arthrogryposis. Patients present with cerebral parenchymal underdevelopment, lissencephaly, severe to mild ventriculomegaly, and cerebellar hypoplasia with brainstem dysgenesis. Most affected individuals die in utero or soon after birth. The few patients who survive have variable intellectual disability and may have seizures. Facial dysmorphism, cardiac and ophthalmologic anomalies, such as microphthalmia and cataract, are additional features. ",
"keywords": null
},
{
"identifier": "Dystonia 34, myoclonic.",
"acronym": "DYT34.",
"accession": "DI-06323",
"synonyms": null,
"cross_references": "MeSH; D004421.",
"definition": "A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT34 is an autosomal dominant form characterized by childhood-onset dystonia predominantly affecting hands and neck, with a fast tremor with superimposed myoclonus and, in some individuals, subtle cerebellar signs. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Brugada syndrome 2.",
"acronym": "BRGDA2.",
"accession": "DI-00203",
"synonyms": null,
"cross_references": "MeSH; D053840.",
"definition": "A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ",
"keywords": "KW-0992:Brugada syndrome.; "
},
{
"identifier": "Deafness, autosomal dominant, 7.",
"acronym": "DFNA7.",
"accession": "DI-05774",
"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. DFNA7 is a progressive form with highly variable age at onset and severity, even within families. The age at onset ranges from congenital to mid-adulthood. ",
"keywords": "KW-1010:Non-syndromic deafness.; "
},
{
"identifier": "Brugada syndrome 3.",
"acronym": "BRGDA3.",
"accession": "DI-00204",
"synonyms": null,
"cross_references": "MeSH; D053840.",
"definition": "A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset. ",
"keywords": "KW-0992:Brugada syndrome.; "
},
{
"identifier": "Intellectual developmental disorder with short stature, facial anomalies, and speech defects.",
"acronym": "IDDSFAS.",
"accession": "DI-05547",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, mildly to severely impaired intellectual development, delayed or slurred speech, and short stature. Dysmorphic features included a large bulbous nose and variable microretrognathia. Some patients show joint hyperlaxity and dislocations. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
}
]
}