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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6460&ordering=synonyms",
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"results": [
{
"identifier": "Polycystic liver disease 1 with or without kidney cysts.",
"acronym": "PCLD1.",
"accession": "DI-02175",
"synonyms": null,
"cross_references": "MeSH; D008107.",
"definition": "An autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. A subset of patients may develop kidney cysts that usually do not result in clinically significant renal disease. ",
"keywords": null
},
{
"identifier": "Polycystic kidney disease 7.",
"acronym": "PKD7.",
"accession": "DI-06514",
"synonyms": null,
"cross_references": "MeSH; D007690.",
"definition": "A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occur in other organs, particularly the liver. PKD7 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Polycystic kidney disease 6 with or without polycystic liver disease.",
"acronym": "PKD6.",
"accession": "DI-05292",
"synonyms": null,
"cross_references": "MeSH; D007690.",
"definition": "A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occur in other organs, particularly the liver. PKD6 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Polycystic kidney disease 5.",
"acronym": "PKD5.",
"accession": "DI-05069",
"synonyms": null,
"cross_references": "MeSH; D007690.",
"definition": "A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts may also occur in other organs, particularly the liver. PKD5 inheritance is autosomal recessive. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Poirier-Bienvenu neurodevelopmental syndrome.",
"acronym": "POBINDS.",
"accession": "DI-05733",
"synonyms": null,
"cross_references": "MeSH; D065886.",
"definition": "An autosomal dominant neurodevelopmental disorder characterized by onset of seizures in infancy, developmental delay, impaired intellectual development, and poor or absent speech. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2.",
"acronym": "PLOSL2.",
"accession": "DI-05390",
"synonyms": null,
"cross_references": "MeSH; D001927.",
"definition": "An autosomal recessive disease characterized by presenile frontal dementia with leukoencephalopathy and basal ganglia calcification. In most cases the disorder first manifests in early adulthood as pain and swelling in ankles and feet, followed by bone fractures. Neurologic symptoms manifest in the fourth decade of life as a frontal lobe syndrome with loss of judgment, euphoria, and disinhibition. Progressive decline in other cognitive domains begins to develop at about the same time. The disorder culminates in a profound dementia and death by age 50 years. ",
"keywords": null
},
{
"identifier": "Platyspondylic lethal skeletal dysplasia Torrance type.",
"acronym": "PLSD-T.",
"accession": "DI-02173",
"synonyms": null,
"cross_references": "MedGen; C1835439.",
"definition": "Platyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous group of chondrodysplasias characterized by severe platyspondyly and limb shortening. PLSD-T is characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondro-osseous junction. PLSD-T is generally a perinatally lethal disease, but a few long-term survivors have been reported. ",
"keywords": null
},
{
"identifier": "Tooth agenesis, selective, 10.",
"acronym": "STHAG10.",
"accession": "DI-06568",
"synonyms": null,
"cross_references": "MeSH; D000848.",
"definition": "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG10 inheritance is autosomal recessive. ",
"keywords": null
},
{
"identifier": "Platelet-activating factor acetylhydrolase deficiency.",
"acronym": "PAFAD.",
"accession": "DI-02171",
"synonyms": null,
"cross_references": "MeSH; D006969.",
"definition": "An enzymatic deficiency that results in exacerbated bodily response to inflammatory agents. It can be associated with several disease states including inflammatory gastrointestinal disorders, asthma and atopy. Asthmatic individuals with PAFAD may manifest aggravated respiratory symptoms. ",
"keywords": null
},
{
"identifier": "Plasminogen activator inhibitor-1 deficiency.",
"acronym": "PAI-1D.",
"accession": "DI-02169",
"synonyms": null,
"cross_references": "MeSH; D025861.",
"definition": "A hematologic disorder characterized by increased bleeding after trauma, injury, or surgery. Affected females have menorrhagia. The bleeding defect is due to increased fibrinolysis of fibrin blood clots due to deficiency of plasminogen activator inhibitor-1, which inhibits tissue and urinary activators of plasminogen. ",
"keywords": null
},
{
"identifier": "Pityriasis rubra pilaris.",
"acronym": "PRP.",
"accession": "DI-03513",
"synonyms": null,
"cross_references": "MeSH; D010916.",
"definition": "A rare, papulosquamous skin disease characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Most cases are sporadic. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression. Familial PRP usually presents at birth or appears during the first years of life and runs a chronic course. It is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema. ",
"keywords": null
},
{
"identifier": "Pituitary hormone deficiency, combined, 6.",
"acronym": "CPHD6.",
"accession": "DI-03174",
"synonyms": null,
"cross_references": "MeSH; D007018.",
"definition": "Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD6 patients manifest neonatal hypoglycemia, and deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. ",
"keywords": null
},
{
"identifier": "Tooth agenesis, selective, 9.",
"acronym": "STHAG9.",
"accession": "DI-04899",
"synonyms": null,
"cross_references": "MeSH; D000848.",
"definition": "A form of selective tooth agenesis, a common anomaly characterized by the congenital absence of one or more teeth. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). STHAG9 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Pituitary hormone deficiency, combined, 5.",
"acronym": "CPHD5.",
"accession": "DI-02582",
"synonyms": null,
"cross_references": "MeSH; D007018.",
"definition": "Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD5 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Premature ovarian failure 13.",
"acronym": "POF13.",
"accession": "DI-04986",
"synonyms": null,
"cross_references": "MeSH; D016649.",
"definition": "An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. ",
"keywords": "KW-1066:Premature ovarian failure.; "
},
{
"identifier": "Total anomalous pulmonary venous return.",
"acronym": "TAPVR.",
"accession": "DI-02375",
"synonyms": null,
"cross_references": "MedGen; C0036400.",
"definition": "Rare congenital heart disease (CHD) in which the pulmonary veins fail to connect to the left atrium during cardiac development, draining instead into either the right atrium or one of its venous tributaries. This disease accounts for 1.5% of all CHDs and has a prevalence of approximately 1 out of 15'000 live births. ",
"keywords": null
},
{
"identifier": "Pituitary hormone deficiency, combined, 1.",
"acronym": "CPHD1.",
"accession": "DI-01563",
"synonyms": null,
"cross_references": "MeSH; D007018.",
"definition": "Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD1 is characterized by pleiotropic deficiencies of growth hormone, prolactin and thyroid-stimulating hormone, while the production of adrenocorticotropic hormone, luteinizing hormone, and follicle-stimulating hormone are preserved. In infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland by MRI examination can be seen. Some cases present with severe intellectual disability along with short stature. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Townes-Brocks syndrome 2.",
"acronym": "TBS2.",
"accession": "DI-04995",
"synonyms": null,
"cross_references": "MeSH; D000015.",
"definition": "A form of Townes-Brocks syndrome, a rare autosomal dominant disease characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease. ",
"keywords": null
},
{
"identifier": "Pituitary hormone deficiency, combined or isolated, 8.",
"acronym": "CPHD8.",
"accession": "DI-06636",
"synonyms": null,
"cross_references": "MeSH; D004393.",
"definition": "An autosomal dominant disorder characterized by short stature due to growth hormone deficiency, variable deficiencies of other pituitary hormones, and pituitary abnormalities. Many CPHD8 patients present with pituitary stalk interruption syndrome that is characterized by pituitary gland insufficiency, thin or discontinuous pituitary stalk, anterior pituitary hypoplasia, and ectopic positioning of the posterior pituitary gland. ",
"keywords": "KW-0242:Dwarfism.; "
},
{
"identifier": "Pituitary adenoma 5, multiple types.",
"acronym": "PITA5.",
"accession": "DI-05087",
"synonyms": null,
"cross_references": "MeSH; D010911.",
"definition": "A form of pituitary adenoma, a neoplasm of the pituitary gland and one of the most common neuroendocrine tumors. Pituitary adenomas are clinically classified as functional and non-functional tumors, and manifest with a variety of features, including local invasion of surrounding structures and excessive hormone secretion. Functional pituitary adenomas are further classified by the type of hormone they secrete: growth hormone (GH)-secreting, prolactin (PRL)-secreting, adrenocorticotropin (ACTH)-secreting, thyroid-stimulating hormone (TSH)-secreting, and plurihormonal (GH and TSH) tumors. Familial and sporadic forms have been reported. The transmission pattern of familial PITA5 is consistent with autosomal dominant inheritance with reduced penetrance. ",
"keywords": null
}
]
}