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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5340",
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"results": [
{
"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": "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": "Plasminogen deficiency.",
"acronym": "PLGD.",
"accession": "DI-02666",
"synonyms": "Dysplasminogenemia.; Hypoplasminogenemia.; Ligneous conjunctivitis.; Plasminogen deficiency type I.; Plasminogen deficiency type II.; ",
"cross_references": "MeSH; D003231.",
"definition": "A disorder characterized by decreased serum plasminogen activity. Two forms of the disorder are distinguished: type 1 deficiency is additionally characterized by decreased plasminogen antigen levels and clinical symptoms, whereas type 2 deficiency, also known as dysplasminogenemia, is characterized by normal, or slightly reduced antigen levels, and absence of clinical manifestations. Plasminogen deficiency type 1 results in markedly impaired extracellular fibrinolysis and chronic mucosal pseudomembranous lesions due to subepithelial fibrin deposition and inflammation. The most common clinical manifestation of type 1 deficiency is ligneous conjunctivitis in which pseudomembranes formation on the palpebral surfaces of the eye progresses to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. ",
"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": "Platelet glycoprotein IV deficiency.",
"acronym": "PG4D.",
"accession": "DI-02170",
"synonyms": "BDPLT10.; Bleeding disorder platelet-type 10.; CD36 deficiency.; ",
"cross_references": "MeSH; D013921.",
"definition": "A disorder characterized by macrothrombocytopenia without notable hemostatic problems and bleeding tendency. Platelet glycoprotein IV deficiency can be divided into 2 subgroups. The type I phenotype is characterized by platelets and monocytes/macrophages exhibiting complete CD36 deficiency. The type II phenotype lacks the surface expression of CD36 in platelets, but expression in monocytes/macrophages is near normal. ",
"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": "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": "Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis.",
"acronym": "POIKTMP.",
"accession": "DI-04046",
"synonyms": "Hereditary sclerosing poikiloderma with tendon and pulmonary involvement.; ",
"cross_references": "MeSH; D011658.",
"definition": "An autosomal dominant form of hereditary poikiloderma, a genodermatosis characterized by mottled pigmentation, telangiectasia, and epidermal atrophy. POIKTMP features include tendon contracture, myopathy, and progressive pulmonary fibrosis. It manifests from early childhood with telangiectasia and pigmentary anomalies especially on the face and sun-exposed areas, tendon contractures that particularly involve the ankles and feet causing gait disturbance, and development of pulmonary fibrosis during the second decade of life resulting in progressive dyspnea and restrictive impairment of lung function. ",
"keywords": null
},
{
"identifier": "Poikiloderma with neutropenia.",
"acronym": "PN.",
"accession": "DI-02620",
"synonyms": "Clericuzio-type poikiloderma neutropenia syndrome.; Poikiloderma with neutropenia Clericuzio-type.; ",
"cross_references": "MeSH; D012868.",
"definition": "A genodermatosis characterized by poikiloderma, pachyonychia and chronic neutropenia. The disorder starts as a papular erythematous rash on the limbs during the first year of life. It gradually spreads centripetally and, as the papular rash resolves, hypo- and hyperpigmentation result, with development of telangiectasias. Another skin manifestation is pachyonychia, but alopecia and leukoplakia are distinctively absent. Patients have recurrent pneumonias that usually result in reactive airway disease and/or chronic cough. One of the most important extracutaneous symptoms is an increased susceptibility to infections, mainly affecting the respiratory system, primarily due to a chronic neutropenia and to neutrophil functional defects. Bone marrow abnormalities account for neutropenia and may evolve into myelodysplasia associated with the risk of leukemic transformation. Poikiloderma with neutropenia shows phenotypic overlap with Rothmund- Thomson syndrome. ",
"keywords": null
},
{
"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 kidney disease 1 with or without polycystic liver disease.",
"acronym": "PKD1.",
"accession": "DI-00925",
"synonyms": "ADPKD.; ADPKD1.; Adult polycystic kidney disease type 1.; Autosomal dominant polycystic kidney disease 1.; PKD-1.; Polycystic kidney disease adult.; Polycystic kidney disease type I.; Polycystic kidneys.; Potter type III polycystic kidney disease.; ",
"cross_references": "MeSH; D016891.",
"definition": "An autosomal dominant disorder characterized by renal cysts, liver cysts and intracranial aneurysm. Clinical variability is due to differences in the rate of loss of glomerular filtration, the age of reaching end-stage renal disease and the occurrence of hypertension, symptomatic extrarenal cysts, and subarachnoid hemorrhage from intracranial 'berry' aneurysm. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Polycystic kidney disease 2 with or without polycystic liver disease.",
"acronym": "PKD2.",
"accession": "DI-00926",
"synonyms": "ADPKD2.; Adult polycystic kidney disease type 2.; Autosomal dominant polycystic kidney disease 2.; PKD-2.; Polycystic kidney disease adult type II.; ",
"cross_references": "MeSH; D016891.",
"definition": "An autosomal dominant disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end- stage renal disease in adult life. Cysts also occurs in the liver and other organs. It represents approximately 15% of the cases of autosomal dominant polycystic kidney disease. PKD2 is clinically milder than PKD1 but it has a deleterious impact on overall life expectancy. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"identifier": "Polycystic kidney disease 3 with or without polycystic liver disease.",
"acronym": "PKD3.",
"accession": "DI-04789",
"synonyms": "APKD3.; Polycystic kidney disease, adult, type III.; ",
"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. PKD3 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Polycystic kidney disease 4, with or without polycystic liver disease.",
"acronym": "PKD4.",
"accession": "DI-00927",
"synonyms": "ARPKD.; Infantile polycystic kidney disease type I.; PKD3.; PKHD1.; Polycystic kidney and hepatic disease 1.; Polycystic kidney disease, autosomal recessive.; Polycystic kidney disease 4 with or without hepatic disease.; ",
"cross_references": "MeSH; D017044.",
"definition": "A severe form of polycystic kidney disease affecting the kidneys and, in some cases, the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis. PKD4 inheritance is autosomal recessive. ",
"keywords": "KW-1186:Ciliopathy.; "
},
{
"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": "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 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 lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1.",
"acronym": "PLOSL1.",
"accession": "DI-02174",
"synonyms": "Nasu-Hakola disease.; NHD.; Presenile dementia with bone cysts.; ",
"cross_references": "MeSH; D001927.",
"definition": "A recessively inherited disease characterized by presenile dementia along with large-scale destruction of cancellous bones. Initial symptoms, starting in the twenties, are pain and swelling resulting from cysts in the wrists and ankles. Extremity bone fractures could occur with minor trauma. At around 30 years of age, patients gradually develop neuropsychiatric symptoms, including epileptic seizures, agnosia, apraxia, speech disorder, memory disturbance, euphoria, and loss of social inhibitions. The disorder usually leads to death in the fifth decade of life. ",
"keywords": null
},
{
"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": "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
}
]
}