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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3540&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3500&ordering=-synonyms",
"results": [
{
"identifier": "Glaucoma, primary closed-angle.",
"acronym": "GLCC.",
"accession": "DI-05838",
"synonyms": "Primary angle-closure glaucoma.; ",
"cross_references": "MeSH; D015812.",
"definition": "An autosomal dominant form of primary glaucoma, an ocular disease characterized by a marked increase of intraocular pressure causing damage to eye structures and function. GLCC is characterized by elevated intraocular pressure due to iridocorneal angle closure with retention of the aqueous humor in the anterior chamber. Iridocorneal angle changes are apparent in the fourth to fifth decade of life, and patients manifest age-related variation in the severity of glaucomatous damage. ",
"keywords": "KW-0955:Glaucoma.; "
},
{
"identifier": "Alzheimer disease.",
"acronym": "AD.",
"accession": "DI-03832",
"synonyms": "Presenile and senile dementia.; ",
"cross_references": "MeSH; D000544.",
"definition": "Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. ",
"keywords": "KW-0026:Alzheimer disease.; KW-0523:Neurodegeneration.; KW-1008:Amyloidosis.; "
},
{
"identifier": "Myasthenic syndrome, congenital, 22.",
"acronym": "CMS22.",
"accession": "DI-04963",
"synonyms": "PREPL deficiency.; ",
"cross_references": "MeSH; D020294.",
"definition": "A form of congenital myasthenic syndrome, a group of disorders characterized by failure of neuromuscular transmission, including pre- synaptic, synaptic, and post-synaptic disorders that are not of autoimmune origin. Clinical features include easy fatigability and muscle weakness. CMS22 is an autosomal recessive form characterized by neonatal hypotonia. ",
"keywords": "KW-1004:Congenital myasthenic syndrome.; "
},
{
"identifier": "Myocardial infarction 1.",
"acronym": "MCI1.",
"accession": "DI-02017",
"synonyms": "Premature myocardial infarction.; ",
"cross_references": "MeSH; D009203.",
"definition": "A condition defined by the irreversible necrosis of heart muscle secondary to prolonged ischemia. ",
"keywords": null
},
{
"identifier": "Intellectual developmental disorder, autosomal dominant 38.",
"acronym": "MRD38.",
"accession": "DI-04443",
"synonyms": "PRELDS.; Psychomotor retardation, epilepsy, and language disability syndrome.; ",
"cross_references": "MeSH; D008607.",
"definition": "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD38 common features are severe intellectual disability, autistic behavior, absent speech, neonatal hypotonia, epilepsy and progressive microcephaly. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; KW-1268:Autism spectrum disorder.; "
},
{
"identifier": "Oocyte/zygote/embryo maturation arrest 16.",
"acronym": "OZEMA16.",
"accession": "DI-04914",
"synonyms": "Preimplantation embryonic lethality 2.; PREMBL2.; ",
"cross_references": "MeSH; D007247.",
"definition": "A rare cause of female primary infertility. In affected women, ovulation and fertilization proceed normally but embryos are arrested at early stages of development. Inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Oocyte/zygote/embryo maturation arrest 15.",
"acronym": "OZEMA15.",
"accession": "DI-04651",
"synonyms": "Preimplantation embryonic lethality 1.; PREMBL1.; ",
"cross_references": "MeSH; D007247.",
"definition": "A rare cause of female primary infertility. In affected women, ovulation proceeds normally and the retrieved oocytes appear normal, but zygote formation and division are severely impaired. Inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Temtamy preaxial brachydactyly syndrome.",
"acronym": "TPBS.",
"accession": "DI-03156",
"synonyms": "Preaxial brachydactyly syndrome Temtamy type.; ",
"cross_references": "MeSH; D000015.",
"definition": "A syndrome characterized by multiple congenital anomalies, intellectual disability, sensorineural deafness, talon cusps of upper central incisors, growth retardation, and bilateral symmetric digital anomalies mainly in the form of preaxial brachydactyly and hyperphalangism. ",
"keywords": null
},
{
"identifier": "Prostate cancer.",
"acronym": "PC.",
"accession": "DI-02663",
"synonyms": "PRCA.; ",
"cross_references": "MeSH; D011471.",
"definition": "A malignancy originating in tissues of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. ",
"keywords": null
},
{
"identifier": "Pleuropulmonary blastoma.",
"acronym": "PPB.",
"accession": "DI-02550",
"synonyms": "PPB familial tumor and dysplasia syndrome.; PPBFTDS.; ",
"cross_references": "MeSH; D012142.",
"definition": "A rare pediatric intrathoracic neoplasm. The tumor arises from the lung, pleura, or both, and appears to be purely mesenchymal in phenotype. It lacks malignant epithelial elements, a feature that distinguishes it from the classic adult-type pulmonary blastoma. It arises during fetal lung development and is often part of an inherited cancer syndrome. The tumor contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium. Mesenchymal cells susceptible to malignant transformation reside within the cyst walls and form a dense layer beneath the epithelial lining. In a subset of patients, overgrowth of the mesenchymal cells produces a sarcoma, a transition that is associated with a poorer prognosis. Some patients have multilocular cystic nephroma, a benign kidney tumor. ",
"keywords": null
},
{
"identifier": "Portal hypertension, non-cirrhotic, 1.",
"acronym": "NCPH1.",
"accession": "DI-04803",
"synonyms": "Portal hypertension, noncirrhotic.; ",
"cross_references": "MeSH; D006975.",
"definition": "An autosomal recessive disorder characterized by portal hypertension associated with hepatosplenomegaly, in absence of cirrhosis, extrahepatic diseases, and splanchnic venous thrombosis. Portal hypertension is defined by a portal venous system pressure that is at least 5 mm Hg higher than the pressure in the inferior vena cava. High pressure in the portal venous system leads to shunting of blood through vessels that are poorly suited to carrying large blood volumes, resulting in collateral circulation and splenomegaly. NCPH1 patients show normal liver function. ",
"keywords": null
},
{
"identifier": "Variegate porphyria.",
"acronym": "VP.",
"accession": "DI-00928",
"synonyms": "Porphyria South African type.; Porphyria variegata.; PPOX deficiency.; Protoporphyrinogen oxidase deficiency.; PV.; ",
"cross_references": "MeSH; D046350.",
"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. Variegate porphyria is an acute hepatic form characterized by partial reduction of protoporphyrinogen oxidase activity, increased photosensitivity, skin blistering and scarring of sun-exposed areas, skin hyperpigmentation, abdominal pain, and neuropsychiatric symptoms. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Inheritance is autosomal dominant with incomplete penetrance. ",
"keywords": null
},
{
"identifier": "Porokeratosis 7, multiple types.",
"acronym": "POROK7.",
"accession": "DI-04571",
"synonyms": "Porokeratosis 7, disseminated superficial actinic type.; ",
"cross_references": "MeSH; D017499.",
"definition": "A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. ",
"keywords": null
},
{
"identifier": "Porokeratosis 1, multiple types.",
"acronym": "POROK1.",
"accession": "DI-04570",
"synonyms": "Porokeratosis 1, Mibelli type.; Porokeratosis of Mibelli.; ",
"cross_references": "MeSH; D017499.",
"definition": "A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. ",
"keywords": null
},
{
"identifier": "Bartsocas-Papas syndrome 2.",
"acronym": "BPS2.",
"accession": "DI-06116",
"synonyms": "Popliteal pterygium syndrome, Bartsocas-Papas type 2.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive, severe form of popliteal pterygium syndrome. Popliteal pterygia syndromes have considerable variability in severity and in the associated phenotypic features but they are all characterized by cutaneous webbing across one or more major joints, cleft lip and/or palate, syndactyly, and genital malformations. ",
"keywords": null
},
{
"identifier": "Coumarin resistance.",
"acronym": "CMRES.",
"accession": "DI-01438",
"synonyms": "Poor metabolism of coumarin.; Warfarin resistance.; ",
"cross_references": "MeSH; D004351.",
"definition": "A condition characterized by partial or complete resistance to warfarin or other 4-hydroxycoumarin derivatives. These drugs are used as anti-coagulants for the prevention of thromboembolic diseases in subjects with deep vein thrombosis, atrial fibrillation, or mechanical heart valve replacement. ",
"keywords": null
},
{
"identifier": "Pontocerebellar hypoplasia 1A.",
"acronym": "PCH1A.",
"accession": "DI-02626",
"synonyms": "Pontocerebellar hypoplasia with anterior horn cell disease.; Pontocerebellar hypoplasia with infantile spinal muscular atrophy.; ",
"cross_references": "MeSH; D002526.",
"definition": "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH1A is an autosomal recessive form characterized by an abnormally small cerebellum and brainstem, central and peripheral motor dysfunction from birth, gliosis and spinal cord anterior horn cells degeneration resembling infantile spinal muscular atrophy. Additional features include muscle hypotonia, congenital contractures and respiratory insufficiency that is evident at birth. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Pontocerebellar hypoplasia 1D.",
"acronym": "PCH1D.",
"accession": "DI-05293",
"synonyms": "Pontocerebellar hypoplasia, type 1D.; ",
"cross_references": "MeSH; D002526.",
"definition": "An autosomal recessive neurologic disorder with onset at birth or in infancy, and characterized by progressive axonal motor neuronopathy, severe generalized hypotonia, respiratory insufficiency, and cerebellar atrophy. Death in childhood may occur. ",
"keywords": "KW-0523:Neurodegeneration.; "
},
{
"identifier": "Pontocerebellar hypoplasia 17.",
"acronym": "PCH17.",
"accession": "DI-06442",
"synonyms": "Pontocerebellar hypoplasia, type 17.; ",
"cross_references": "MeSH; D002526.",
"definition": "A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH17 is an autosomal recessive, severe form clinically characterized by neonatal hypotonia, feeding and respiratory difficulties, central apnea, and bradycardia. Most affected individuals die in infancy. Brain imaging shows cerebellar and brainstem hypoplasia. ",
"keywords": null
},
{
"identifier": "Pontocerebellar hypoplasia 11.",
"acronym": "PCH11.",
"accession": "DI-05084",
"synonyms": "Pontocerebellar hypoplasia, type 11.; ",
"cross_references": "MeSH; D002526.",
"definition": "A non-degenerative form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH11 features include severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia. PCH11 inheritance is autosomal recessive. ",
"keywords": null
}
]
}