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=200&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=160&ordering=synonyms",
"results": [
{
"identifier": "Renal cysts and diabetes syndrome.",
"acronym": "RCAD.",
"accession": "DI-00967",
"synonyms": "ADTKD3.; Atypical familial juvenile hyperuricemic nephropathy.; Atypical FJHN.; CAKUT with diabetes.; Congenital anomalies of the kidney and urinary tract with diabetes.; Familial hypoplastic glomerulocystic kidney.; Glomerulocystic kidney disease hypoplastic type.; Maturity-onset diabetes of the young type 5.; MODY5.; Renal-diabetes MODY5 syndrome.; Tubulointerstitial kidney disease, autosomal dominant, 3.; ",
"cross_references": "MeSH; D003924.",
"definition": "An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Fanconi renotubular syndrome 1.",
"acronym": "FRTS1.",
"accession": "DI-05857",
"synonyms": "Adult Fanconi syndrome.; Fanconi renotubular syndrome.; Fanconi syndrome without cystinosis.; FRTS.; Luder-Sheldon syndrome.; Renal Fanconi syndrome.; RFS.; ",
"cross_references": "MeSH; D005198.",
"definition": "A form of Fanconi renotubular syndrome, a disease due to a generalized dysfunction of the proximal kidney tubule resulting in decreased solute and water reabsorption. Patients have polydipsia and polyuria with phosphaturia, glycosuria and aminoaciduria. They may develop hypophosphatemic rickets or osteomalacia, acidosis and a tendency toward dehydration. Some eventually develop renal insufficiency. FRTS1 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive.",
"acronym": "CLN4A.",
"accession": "DI-03163",
"synonyms": "Adult neuronal ceroid lipofuscinosis.; CLN6 disease Kufs type A.; Kufs disease.; Kufs disease autosomal recessive.; ",
"cross_references": "MeSH; D009472.",
"definition": "An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4A has no visual involvement and is characterized by progressive myoclonic epilepsy. ",
"keywords": "KW-0525:Neuronal ceroid lipofuscinosis.; "
},
{
"identifier": "Gaucher disease 1.",
"acronym": "GD1.",
"accession": "DI-01647",
"synonyms": "Adult non-neuronopathic Gaucher disease.; Gaucher disease type I.; GD I.; Noncerebral juvenile Gaucher disease.; ",
"cross_references": "MeSH; D005776.",
"definition": "A form of Gaucher disease, an autosomal recessive lysosomal storage disease due to deficient activity of lysosomal beta- glucocerebrosidase, and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. GD1 is characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved. ",
"keywords": null
},
{
"identifier": "Mitochondrial complex V deficiency, mitochondrial 1.",
"acronym": "MC5DM1.",
"accession": "DI-03714",
"synonyms": "Adult-onset ataxia and polyneuropathy.; Infantile hypertrophic cardiomyopathy.; Mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1.; ",
"cross_references": "MeSH; D028361.",
"definition": "A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course. ",
"keywords": "KW-1274:Primary mitochondrial disease.; "
},
{
"identifier": "Neurodegeneration with brain iron accumulation 3.",
"acronym": "NBIA3.",
"accession": "DI-02044",
"synonyms": "Adult-onset basal ganglia disease.; Neuroferritinopathy.; ",
"cross_references": "MeSH; D019189.",
"definition": "A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by a variety of neurological signs including parkinsonism, ataxia, corticospinal signs, mild non-progressive cognitive deficit and episodic psychosis. It is linked with decreased serum ferritin levels. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Citrullinemia 2.",
"acronym": "CTLN2.",
"accession": "DI-00310",
"synonyms": "Adult-onset citrullinemia type 2.; Citrin deficiency.; Citrullinemia type II.; ",
"cross_references": "MeSH; D056806.",
"definition": "A form of citrullinemia, an autosomal recessive disease characterized primarily by elevated serum and urine citrulline levels. Ammonia intoxication is another manifestation. Citrullinemia type 2 is characterized by neuropsychiatric symptoms including abnormal behaviors, loss of memory, seizures and coma. Death can result from brain edema. Onset is sudden and usually between the ages of 20 and 50 years. ",
"keywords": null
},
{
"identifier": "Type 2 diabetes mellitus.",
"acronym": "T2D.",
"accession": "DI-02060",
"synonyms": "Adult-onset diabetes mellitus.; Diabetes mellitus type 2.; Diabetes mellitus type II.; Maturity-onset diabetes.; Noninsulin-dependent diabetes mellitus.; ",
"cross_references": "MeSH; D003924.",
"definition": "A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. ",
"keywords": "KW-0219:Diabetes mellitus.; "
},
{
"identifier": "Macular dystrophy, vitelliform, 3.",
"acronym": "VMD3.",
"accession": "DI-00051",
"synonyms": "Adult-onset foveomacular dystrophy.; Adult-onset vitelliform macular dystrophy.; AOFMD.; AVMD.; Foveomacular dystrophy, adult-onset, with or without choroidal neovascularization.; ",
"cross_references": "MeSH; D057826.",
"definition": "A form of vitelliform macular dystrophy, a retinal disease characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity. ",
"keywords": null
},
{
"identifier": "Glaucoma, primary open angle.",
"acronym": "POAG.",
"accession": "DI-00936",
"synonyms": "Adult-onset primary open angle glaucoma.; ",
"cross_references": "MeSH; D005902.",
"definition": "A complex and genetically heterogeneous ocular disorder characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. In some cases, POAG shows digenic inheritance involving mutations in CYP1B1 and MYOC genes. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Glaucoma 1, open angle, E.",
"acronym": "GLC1E.",
"accession": "DI-00938",
"synonyms": "Adult-onset primary open angle glaucoma.; POAG.; Primary open angle glaucoma 1E.; ",
"cross_references": "MeSH; D005902.",
"definition": "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Glaucoma 1, open angle, F.",
"acronym": "GLC1F.",
"accession": "DI-03767",
"synonyms": "Adult-onset primary open angle glaucoma.; POAG.; Primary open angle glaucoma 1F.; ",
"cross_references": "MeSH; D005902.",
"definition": "A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Dystonia 6, torsion.",
"acronym": "DYT6.",
"accession": "DI-00416",
"synonyms": "Adult-onset torsion dystonia mixed type.; Autosomal dominant torsion dystonia 6.; Dystonia-6.; Torsion dystonia type 6.; ",
"cross_references": "MeSH; D004421.",
"definition": "A primary torsion dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 6 is characterized by onset in early adulthood, cranial or cervical involvement in about half of the cases, and frequent progression to involve multiple body regions. ",
"keywords": "KW-1023:Dystonia.; "
},
{
"identifier": "Polyglucosan body neuropathy, adult form.",
"acronym": "APBN.",
"accession": "DI-00052",
"synonyms": "Adult polyglucosan body disease.; APBD.; Polyglucosan body disease, adult form.; ",
"cross_references": "MeSH; D009422.",
"definition": "A late-onset, slowly progressive disorder affecting the central and peripheral nervous systems. Patients typically present after age 40 years with a variable combination of cognitive impairment, pyramidal tetraparesis, peripheral neuropathy, and neurogenic bladder. Other manifestations include cerebellar dysfunction and extrapyramidal signs. The pathologic hallmark of APBN is the widespread accumulation of round, intracellular polyglucosan bodies throughout the nervous system, which are confined to neuronal and astrocytic processes. ",
"keywords": "KW-0622:Neuropathy.; "
},
{
"identifier": "Vitreoretinochoroidopathy.",
"acronym": "VRCP.",
"accession": "DI-01125",
"synonyms": "ADVIRC.; Vitreoretinochoroidopathy, autosomal dominant.; Vitreoretinochoroidopathy autosomal dominant with nanophthalmos, microcornea, rod-cone dystrophy, cataract and posterior staphyloma.; Vitreoretinochoroidopathy with microcornea-glaucoma-cataract.; ",
"cross_references": "MeSH; D015862.",
"definition": "An autosomal dominant ocular disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma. ",
"keywords": null
},
{
"identifier": "Periodic paralysis hyperkalemic.",
"acronym": "HYPP.",
"accession": "DI-00906",
"synonyms": "Adynamia episodica hereditaria with or without myotonia.; Gamstorp disease.; ",
"cross_references": "MeSH; D020513.",
"definition": "An autosomal dominant channelopathy characterized by episodic flaccid generalized muscle weakness associated with high levels of serum potassium. Concurrence of myotonia is found in HYPP patients. ",
"keywords": null
},
{
"identifier": "Angioedema induced by ACE inhibitors.",
"acronym": "AEACEI.",
"accession": "DI-03955",
"synonyms": "AE-ACEI.; ",
"cross_references": "MeSH; D064420.",
"definition": "A potentially life-threatening side effect of ACE inhibitors that appears in a subset of patients taking these drugs for hypertension and cardiovascular disease treatment. AEACEI is characterized by swelling of the face, lips, tongue, and airway that can lead to suffocation and death if severe. ",
"keywords": null
},
{
"identifier": "Ankyloblepharon-ectodermal defects-cleft lip/palate.",
"acronym": "AEC.",
"accession": "DI-00122",
"synonyms": "AEC syndrome.; Ankyloblepharon-ectodermal defect-cleft lip/palate.; Hay-Wells syndrome.; ",
"cross_references": "MeSH; D004476.",
"definition": "An autosomal dominant condition characterized by congenital ectodermal dysplasia with coarse, wiry, sparse hair, dystrophic nails, slight hypohidrosis, scalp infections, ankyloblepharon filiform adnatum, maxillary hypoplasia, hypodontia and cleft lip/palate. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Microphthalmia, syndromic, 3.",
"acronym": "MCOPS3.",
"accession": "DI-00762",
"synonyms": "AEG syndrome.; Anophthalmia/microphthalmia-esophageal atresia.; Anophthalmia-esophageal-genital syndrome.; Microphthalmia and esophageal atresia syndrome.; ",
"cross_references": "MeSH; D008850.",
"definition": "A disease characterized by the rare association of malformations including uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with trachoesophageal fistula. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. ",
"keywords": "KW-1013:Microphthalmia.; "
},
{
"identifier": "Ichthyosis, annular epidermolytic, 1.",
"acronym": "AEI1.",
"accession": "DI-00580",
"synonyms": "AEI.; Annular ichthyosis variant of BCIE.; Cyclic ichthyosis with epidermolytic hyperkeratosis.; Ichthyosis annular epidermolytic.; ",
"cross_references": "MeSH; D007057.",
"definition": "A form of annular epidermolytic ichthyosis, an autosomal dominant skin disorder characterized by polycyclic, migratory erythematous and scaly plaques. AEI1 is characterized by the development of widespread erythematous blistering in the neonatal period or early childhood that subsides over time. ",
"keywords": "KW-0977:Ichthyosis.; "
}
]
}