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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6580&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6540&ordering=-synonyms",
"results": [
{
"identifier": "Acrodysostosis 1, with or without hormone resistance.",
"acronym": "ACRDYS1.",
"accession": "DI-03459",
"synonyms": "ADOHR.; Arkless-Graham syndrome.; Maroteaux-Malamut syndrome.; ",
"cross_references": "MeSH; D004413.",
"definition": "A form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin. However, not all patients show endocrine abnormalities. ",
"keywords": null
},
{
"identifier": "Optic atrophy 3.",
"acronym": "OPA3.",
"accession": "DI-02098",
"synonyms": "ADOAC.; Autosomal dominant optic atrophy and cataract.; Optic atrophy 3 autosomal dominant.; ",
"cross_references": "MeSH; D015418.",
"definition": "A condition that features progressive visual loss 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. OPA3 is associated with cataract and a neurologic disorder characterized by extrapyramidal signs and ataxia. ",
"keywords": null
},
{
"identifier": "Vitreoretinopathy, neovascular inflammatory.",
"acronym": "VRNI.",
"accession": "DI-03622",
"synonyms": "ADNIV.; Neovascular inflammatory vitreoretinopathy autosomal dominant.; Proliferative vitreoretinopathy.; PVR.; ",
"cross_references": "MeSH; D018630.",
"definition": "An autoimmune condition of the eye that sequentially mimics uveitis, retinitis pigmentosa, and proliferative diabetic retinopathy as it progresses to complete blindness. Patients present during the second or third decade of life with posterior uveitis and reduction of the electroretinogram b-wave. They become more symptomatic when cataracts, cystoid macular edema, and disk edema diminish visual acuity during the second stage. Severe vision loss begins during the third stage when proliferative retinal neovascularization and epiretinal membranes appear. There is an ongoing pigmentary retinal degeneration and peripheral visual field loss during all stages. In the fourth stage, proliferative vitreoretinopathy causes tractional retinal detachments at the macula and vitreous base. The fifth or end-stage disease is marked by phthisis. ",
"keywords": null
},
{
"identifier": "Epilepsy, nocturnal frontal lobe, 1.",
"acronym": "ENFL1.",
"accession": "DI-00819",
"synonyms": "ADNFLE.; Autosomal dominant nocturnal frontal lobe epilepsy.; ",
"cross_references": "MeSH; D017034.",
"definition": "An autosomal dominant focal epilepsy characterized by nocturnal seizures with hyperkinetic automatisms and poorly organized stereotyped movements. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Tubulointerstitial kidney disease, autosomal dominant, 2.",
"acronym": "ADTKD2.",
"accession": "DI-03826",
"synonyms": "ADMCKD1.; Autosomal dominant medullary cystic kidney disease 1.; MCKD.; MCKD1.; Medullary cystic kidney disease 1.; Medullary polycystic kidneys.; ",
"cross_references": "MeSH; D052177.",
"definition": "A form of autosomal dominant tubulointerstitial kidney disease, a genetically heterogeneous disorder characterized by slowly progressive loss of kidney function, bland urinary sediment, hyperuricemia, absent or mildly increased albuminuria, lack of severe hypertension during the early stages, and normal or small kidneys on ultrasound. Renal histology shows variable abnormalities including interstitial fibrosis with tubular atrophy, microcystic dilatation of the tubules, thickening of tubular basement membranes, medullary cysts, and secondary glomerulosclerotic or glomerulocystic changes with abnormal glomerular tufting. There is significant variability, as well as incomplete penetrance. ",
"keywords": null
},
{
"identifier": "Epilepsy, familial temporal lobe, 1.",
"acronym": "ETL1.",
"accession": "DI-00628",
"synonyms": "ADLTE.; ADPEAF.; Lateral temporal lobe epilepsy autosomal dominant.; Partial epilepsy with auditory features.; ",
"cross_references": "MeSH; D004833.",
"definition": "A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Adie pupil.",
"acronym": "ADIEP.",
"accession": "DI-01174",
"synonyms": "Adie syndrome.; Holmes-Adie syndrome.; Tonic pupil.; ",
"cross_references": "MeSH; D015845.",
"definition": "A stationary, benign disorder characterized by tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes. Adie pupil is a characteristic of Charcot-Marie-Tooth disease type 2J. ",
"keywords": null
},
{
"identifier": "Amelogenesis imperfecta 3A.",
"acronym": "AI3A.",
"accession": "DI-00093",
"synonyms": "ADHCAI.; Amelogenesis imperfecta hypocalcification type autosomal dominant.; Amelogenesis imperfecta hypomineralization type.; Amelogenesis imperfecta type III.; ",
"cross_references": "MeSH; D000567.",
"definition": "An autosomal dominant hypomineralized form of amelogenesis imperfecta, a defect of enamel formation. AI3A is characterized by enamel of normal thickness but soft and with cheesy consistency. Enamel is lost from tooth soon after eruption. ",
"keywords": "KW-0986:Amelogenesis imperfecta.; "
},
{
"identifier": "Muscular dystrophy, limb-girdle, autosomal recessive 3.",
"acronym": "LGMDR3.",
"accession": "DI-00661",
"synonyms": "Adhalinopathy primary.; DMDA2.; Duchenne-like muscular dystrophy autosomal recessive type 2.; LGMD2D.; Limb-girdle muscular dystrophy 2D.; Muscular dystrophy, limb-girdle, type 2D.; SCARMD.; Severe childhood autosomal recessive muscular dystrophy.; ",
"cross_references": "MeSH; D049288.",
"definition": "An autosomal recessive degenerative myopathy characterized by progressive muscle wasting from early childhood with loss of independent ambulation by teenage years. Muscle biopsy shows necrosis, decreased immunostaining for alpha sarcoglycan, and adhalin deficiency. ",
"keywords": "KW-0947:Limb-girdle muscular dystrophy.; "
},
{
"identifier": "Basan syndrome.",
"acronym": "BSNS.",
"accession": "DI-04977",
"synonyms": "Adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nail abnormalities.; Ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease.; ",
"cross_references": "MeSH; D012868.",
"definition": "An autosomal dominant form of adermatoglyphia associated with congenital facial milia, acral blistering, digital contractures, and nail abnormalities. Adermatoglyphia is defined by the lack of epidermal ridges on the palms and soles, which results in the absence of fingerprints. ",
"keywords": "KW-0038:Ectodermal dysplasia.; "
},
{
"identifier": "Adenylosuccinase deficiency.",
"acronym": "ADSLD.",
"accession": "DI-00040",
"synonyms": "Adenylosuccinate lyase deficiency.; ADSL deficiency.; ",
"cross_references": "MeSH; D011686.",
"definition": "An autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA- riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Myopathy due to myoadenylate deaminase deficiency.",
"acronym": "MMDD.",
"accession": "DI-00039",
"synonyms": "Adenosine monophosphate deaminase deficiency muscle type.; AMPD1 deficiency.; AMP deaminase deficiency muscle type.; MAD deficiency.; Myoadenylate deaminase deficiency.; ",
"cross_references": "MeSH; D008661.",
"definition": "A metabolic disorder resulting in exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue. ",
"keywords": null
},
{
"identifier": "Familial adenomatous polyposis 1.",
"acronym": "FAP1.",
"accession": "DI-01547",
"synonyms": "Adenomatous polyposis of the colon.; APC.; Familial polyposis of the colon.; FPC.; ",
"cross_references": "MeSH; D011125.",
"definition": "An autosomal dominant cancer predisposition syndrome characterized by adenomatous polyps of the colon and rectum, but also of upper gastrointestinal tract (ampullary, duodenal and gastric adenomas). This is a viciously premalignant disease with one or more polyps progressing through dysplasia to malignancy in untreated gene carriers with a median age at diagnosis of 40 years. ",
"keywords": null
},
{
"identifier": "Familial adenomatous polyposis 2.",
"acronym": "FAP2.",
"accession": "DI-01228",
"synonyms": "Adenomas multiple colorectal autosomal recessive.; Colorectal adenomatous polyposis autosomal recessive.; ",
"cross_references": "MeSH; D018256.",
"definition": "A condition characterized by the development of multiple colorectal adenomatous polyps, benign neoplasms derived from glandular epithelium. Some affected individuals may develop colorectal carcinoma. ",
"keywords": null
},
{
"identifier": "Lung cancer.",
"acronym": "LNCR.",
"accession": "DI-02205",
"synonyms": "Adenocarcinoma of lung.; Alveolar cell carcinoma.; Nonsmall cell lung cancer.; ",
"cross_references": "MeSH; D008175.",
"definition": "A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis. ",
"keywords": null
},
{
"identifier": "Renal cell carcinoma.",
"acronym": "RCC.",
"accession": "DI-02254",
"synonyms": "Adenocarcinoma of kidney.; CCRCC.; Clear cell renal carcinoma.; Common renal cell carcinoma.; Conventional renal cell carcinoma.; CRCC.; Hypernephroma.; Renal cell carcinoma non-papillary.; ",
"cross_references": "MeSH; D002292.",
"definition": "Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non- papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype. ",
"keywords": null
},
{
"identifier": "Ehlers-Danlos syndrome, musculocontractural type 1.",
"acronym": "EDSMC1.",
"accession": "DI-02810",
"synonyms": "Adducted thumb-clubfoot syndrome.; Adducted thumbs-arthrogryposis Dundar type.; Arthrogryposis distal with peculiar facies and hydronephrosis.; ATCS.; Dundar syndrome.; EDS6B formerly.; EDSMC.; Ehlers-Danlos syndrome type VIB formerly.; ",
"cross_references": "MeSH; D004535.",
"definition": "A form of Ehlers-Danlos syndrome characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement. ",
"keywords": "KW-0248:Ehlers-Danlos syndrome.; "
},
{
"identifier": "AMED syndrome, digenic.",
"acronym": "AMEDS.",
"accession": "DI-06008",
"synonyms": "ADDS.; Aldehyde degradation deficiency syndrome.; BMFS7.; Bone marrow failure syndrome 7, digenic.; ",
"cross_references": "MeSH; D000080983.",
"definition": "A form of bone marrow failure syndrome, a heterogeneous group of life- threatening disorders characterized by hematopoietic defects in association with a range of variable extra-hematopoietic manifestations. AMEDS is an autosomal recessive, digenic form characterized by childhood onset of bone marrow failure resulting in aplastic anemia, in association with global developmental delay, intellectual disability, and poor overall growth with short stature. ",
"keywords": "KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Adrenoleukodystrophy.",
"acronym": "ALD.",
"accession": "DI-00050",
"synonyms": "Addison disease and cerebral sclerosis.; Adrenomyeloneuropathy.; AMN.; Bronze Schilder disease.; Melanodermic leukodystrophy.; Siemerling-Creutzfeldt disease.; ",
"cross_references": "MeSH; D000326.",
"definition": "A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype. ",
"keywords": null
},
{
"identifier": "Epilepsy, familial adult myoclonic, 2.",
"acronym": "FAME2.",
"accession": "DI-04469",
"synonyms": "ADCME.; BAFME2.; Benign adult familial myoclonic epilepsy 2.; Cortical myoclonic tremor with epilepsy, familial, 2.; Cortical myoclonus and epilepsy, autosomal dominant.; FCMTE2.; ",
"cross_references": "MeSH; D004831.",
"definition": "A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME2 inheritance is autosomal dominant. ",
"keywords": "KW-0887:Epilepsy.; "
}
]
}