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"count": 6723,
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"results": [
{
"identifier": "Galloway-Mowat syndrome 4.",
"acronym": "GAMOS4.",
"accession": "DI-05107",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Gilbert syndrome.",
"acronym": "GILBS.",
"accession": "DI-01659",
"synonyms": null,
"cross_references": "MedGen; C0017551.",
"definition": "Occurs as a consequence of reduced bilirubin transferase activity and is often detected in young adults with vague non-specific complaints. ",
"keywords": null
},
{
"identifier": "Gilles de la Tourette syndrome.",
"acronym": "GTS.",
"accession": "DI-01660",
"synonyms": null,
"cross_references": "MedGen; C1392622.",
"definition": "Neurologic disorder manifested particularly by motor and vocal tics and associated with behavioral abnormalities. ",
"keywords": null
},
{
"identifier": "Galloway-Mowat syndrome 5.",
"acronym": "GAMOS5.",
"accession": "DI-05108",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Galloway-Mowat syndrome 6.",
"acronym": "GAMOS6.",
"accession": "DI-05498",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS6 is an autosomal recessive form with onset in infancy or early childhood. Affected individuals manifest microcephaly, global developmental delay, variable degrees of intellectual disability, and growth deficiency. Renal impairment may be age-dependent or may not be present. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Galloway-Mowat syndrome 7.",
"acronym": "GAMOS7.",
"accession": "DI-05499",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS7 inheritance is autosomal recessive. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Galloway-Mowat syndrome 8.",
"acronym": "GAMOS8.",
"accession": "DI-05500",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS8 inheritance is autosomal recessive. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Galloway-Mowat syndrome 9.",
"acronym": "GAMOS9.",
"accession": "DI-06183",
"synonyms": null,
"cross_references": "MeSH; D009422.",
"definition": "A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS9 inheritance is autosomal recessive. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Garg-Mishra progeroid syndrome.",
"acronym": "GMPGS.",
"accession": "DI-06792",
"synonyms": null,
"cross_references": "MeSH; D019588.",
"definition": "An autosomal recessive syndrome characterized by a progeroid appearance, severe dwarfism, mandibular hypoplasia, hyperopia, and partial lipodystrophy. ",
"keywords": null
},
{
"identifier": "Brugada syndrome 1.",
"acronym": "BRGDA1.",
"accession": "DI-00202",
"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": "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": "Brain malformations with or without urinary tract defects.",
"acronym": "BRMUTD.",
"accession": "DI-04979",
"synonyms": null,
"cross_references": "MeSH; D007674.",
"definition": "A syndrome characterized by corpus callosum hypoplasia or agenesis, hydrocephalus or ventricular enlargement, developmental delay, and urinary tract defects. ",
"keywords": null
},
{
"identifier": "Brain abnormalities, neurodegeneration, and dysosteosclerosis.",
"acronym": "BANDDOS.",
"accession": "DI-05595",
"synonyms": null,
"cross_references": "MeSH; D019636.",
"definition": "An autosomal recessive disease with variable manifestations. Main features are brain malformations with calcifying leukoencephalopathy, progressive neurodegeneration, and bone sclerotic features. The age at onset ranges from infancy to early adulthood. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Braddock-Carey syndrome 2.",
"acronym": "BRDCS2.",
"accession": "DI-06453",
"synonyms": null,
"cross_references": "MeSH; D019465.",
"definition": "An autosomal recessive disease characterized by microcephaly, congenital thrombocytopenia, and facial dysmorphisms including Pierre- Robin sequence. ",
"keywords": null
},
{
"identifier": "Brachydactyly-syndactyly-oligodactyly syndrome.",
"acronym": "BDSDO.",
"accession": "DI-04740",
"synonyms": null,
"cross_references": "MeSH; D059327.",
"definition": "A syndrome characterized by a complex brachydactyly-syndactyly- oligodactyly phenotype. Limb anomalies include reduced number of digits that are severely shortened, camptodactyly, syndactyly, absence of terminal phalanges of the thumbs, and absence of nails of the thumbs and toes. ",
"keywords": null
},
{
"identifier": "Gaucher disease perinatal lethal.",
"acronym": "GDPL.",
"accession": "DI-02151",
"synonyms": null,
"cross_references": "MedGen; C1842704.",
"definition": "Distinct form of Gaucher disease type 2, characterized by fetal onset. Hydrops fetalis, in utero fetal death and neonatal distress are prominent features. When hydrops is absent, neurologic involvement begins in the first week and leads to death within 3 months. Hepatosplenomegaly is a major sign, and is associated with ichthyosis, arthrogryposis, and facial dysmorphism. ",
"keywords": null
},
{
"identifier": "Gaucher disease, atypical, due to saposin C deficiency.",
"acronym": "GDSAPC.",
"accession": "DI-01196",
"synonyms": null,
"cross_references": "MeSH; D005776.",
"definition": "A disease characterized by marked glucosylceramide accumulation in the spleen without having a deficiency of glucosylceramide-beta glucosidase characteristic of classic Gaucher disease. Gaucher disease is a lysosomal storage disorder characterized by skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement. ",
"keywords": null
},
{
"identifier": "Gaze palsy, familial horizontal, with progressive scoliosis, 2, with impaired intellectual development.",
"acronym": "HGPPS2.",
"accession": "DI-05031",
"synonyms": null,
"cross_references": "MeSH; D015835.",
"definition": "An autosomal recessive neurologic disorder characterized by global developmental delay, delayed walking, intellectual disability, horizontal gaze palsy, and childhood-onset progressive scoliosis. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Geleophysic dysplasia 3.",
"acronym": "GPHYSD3.",
"accession": "DI-05159",
"synonyms": null,
"cross_references": "MeSH; D004392.",
"definition": "A form of geleophysic dysplasia, a rare skeletal disease characterized by severe short stature, short hands and feet, and joint limitations. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include skin thickening, progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. GPHYSD3 inheritance is autosomal dominant. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Generalized epilepsy with febrile seizures plus 12.",
"acronym": "GEFSP12.",
"accession": "DI-06865",
"synonyms": null,
"cross_references": "MeSH; D004829.",
"definition": "An autosomal dominant neurologic disorder with variable expressivity and incomplete penetrance. Affected individuals have variable types of seizures, most often febrile seizures, sometimes combined with non- febrile focal or generalized seizures. Rarely, afebrile tonic-clonic seizures have been observed. ",
"keywords": "KW-0887:Epilepsy.; "
}
]
}