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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2140&ordering=-synonyms",
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"results": [
{
"identifier": "Cholestasis, benign recurrent intrahepatic, 2.",
"acronym": "BRIC2.",
"accession": "DI-00186",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Familial non-Hodgkin lymphoma.",
"acronym": "NHL.",
"accession": "DI-01594",
"synonyms": null,
"cross_references": "MedGen; C0024305.",
"definition": "Cancer that starts in cells of the lymph system, which is part of the body's immune system. NHLs can occur at any age and are often marked by enlarged lymph nodes, fever and weight loss. ",
"keywords": null
},
{
"identifier": "Bardet-Biedl syndrome 10.",
"acronym": "BBS10.",
"accession": "DI-00168",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 74.",
"acronym": "MRD74.",
"accession": "DI-06839",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant disorder characterized by global developmental delay, including delay of motor skills and speech delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphology. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Encephalitis, acute, infection (viral)-induced, 11.",
"acronym": "IIAE11.",
"accession": "DI-06170",
"synonyms": null,
"cross_references": "MeSH; D018792.",
"definition": "An autosomal recessive disorder characterized by increased susceptibility to viral encephalitis affecting the brainstem and induced by neurotropic viruses, such as herpes simplex virus-1, influenza B virus or norovirus. ",
"keywords": null
},
{
"identifier": "Erythrokeratodermia variabilis et progressiva 2.",
"acronym": "EKVP2.",
"accession": "DI-05018",
"synonyms": null,
"cross_references": "MeSH; D056266.",
"definition": "A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. ",
"keywords": "KW-1007:Palmoplantar keratoderma.; "
},
{
"identifier": "Encephalitis/encephalopathy, mild, with reversible myelin vacuolization.",
"acronym": "MMERV.",
"accession": "DI-05330",
"synonyms": null,
"cross_references": "MeSH; D004660.",
"definition": "An autosomal dominant disease characterized by episodes of acute encephalitis associated with impaired consciousness, delirious behavior, seizures, and reversible splenial lesions observed on diffusion magnetic resonance imaging. Most patients completely recover and there are no neurologic sequelae. MMERV occurs in children and is frequently associated with a trigger, such as a febrile illness. ",
"keywords": null
},
{
"identifier": "Encephalocraniocutaneous lipomatosis.",
"acronym": "ECCL.",
"accession": "DI-04665",
"synonyms": null,
"cross_references": "MeSH; D020752.",
"definition": "A sporadically occurring, neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system anomalies. Clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, intracranial and intraspinal lipomas, and congenital abnormalities of the meninges. Seizures, spasticity, and intellectual disability can be present. ",
"keywords": null
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 11.",
"acronym": "PFIC11.",
"accession": "DI-06419",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Encephalopathy due to defective mitochondrial and peroxisomal fission 2.",
"acronym": "EMPF2.",
"accession": "DI-04810",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy. ",
"keywords": null
},
{
"identifier": "Bardet-Biedl syndrome 12.",
"acronym": "BBS12.",
"accession": "DI-01269",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Erythropoietic protoporphyria, X-linked dominant.",
"acronym": "XLDPT.",
"accession": "DI-00485",
"synonyms": null,
"cross_references": "MeSH; D046351.",
"definition": "A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. XLDPT is characterized biochemically by a high proportion of zinc- protoporphyrin in erythrocytes, in which a mismatch between protoporphyrin production and the heme requirement of differentiating erythroid cells leads to overproduction of protoporphyrin in amounts sufficient to cause photosensitivity and liver disease. ",
"keywords": null
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 2.",
"acronym": "PFIC2.",
"accession": "DI-00950",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC2 inheritance is autosomal recessive. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly.",
"acronym": "MRT34.",
"accession": "DI-03395",
"synonyms": null,
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by mild to moderate intellectual disability, megalencephaly or enlarged head circumference, and a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures. ",
"keywords": "KW-0451:Lissencephaly.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Bardet-Biedl syndrome 13.",
"acronym": "BBS13.",
"accession": "DI-03087",
"synonyms": null,
"cross_references": "MeSH; D020788.",
"definition": "A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. ",
"keywords": "KW-0083:Bardet-Biedl syndrome.; KW-0550:Obesity.; "
},
{
"identifier": "Amyotrophic lateral sclerosis 26, with or without frontotemporal dementia.",
"acronym": "ALS26.",
"accession": "DI-06002",
"synonyms": null,
"cross_references": "MeSH; D000690.",
"definition": "A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS26 inheritance is autosomal dominant. Some patients may develop frontotemporal dementia. ",
"keywords": "KW-0036:Amyotrophic lateral sclerosis.; "
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 4.",
"acronym": "PFIC4.",
"accession": "DI-04152",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC4 inheritance is autosomal recessive. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Encephalopathy, acute, infection-induced, 9.",
"acronym": "IIAE9.",
"accession": "DI-05581",
"synonyms": null,
"cross_references": "MeSH; D004684.",
"definition": "An autosomal recessive disorder characterized by infancy-onset of episodic neurodevelopmental regression in association with infection- induced febrile illness. Clinical features include poor overall growth, seizures, myoclonic jerks, microcephaly, ataxia, and cerebellar atrophy. ",
"keywords": null
},
{
"identifier": "Cholestasis, progressive familial intrahepatic, 5.",
"acronym": "PFIC5.",
"accession": "DI-04774",
"synonyms": null,
"cross_references": "MeSH; D002780.",
"definition": "A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC5 is an autosomal recessive, severe form characterized by onset of intralobular cholestasis in the neonatal period. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Neuroblastoma 3.",
"acronym": "NBLST3.",
"accession": "DI-02632",
"synonyms": null,
"cross_references": "MeSH; D009447.",
"definition": "A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. ",
"keywords": null
}
]
}