{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1180&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1140&ordering=-identifier","results":[{"identifier":"Question mark ears, isolated.","acronym":"QME.","accession":"DI-04053","synonyms":"Congenital auricular cleft.; Cosman deformity of the auricle.; Prominent and constricted ears.; ","cross_references":"MeSH; D004427.","definition":"An auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus. ","keywords":null},{"identifier":"Quebec platelet disorder.","acronym":"QPD.","accession":"DI-03256","synonyms":"BDPLT5.; Bleeding disorder platelet-type 5.; Factor V Quebec.; ","cross_references":"MeSH; D006470.","definition":"An autosomal dominant bleeding disorder due to a gain-of-function defect in fibrinolysis. Although affected individuals do not exhibit systemic fibrinolysis, they show delayed onset bleeding after challenge, such as surgery. The hallmark of the disorder is markedly increased PLAU levels within platelets, which causes intraplatelet plasmin generation and secondary degradation of alpha-granule proteins. ","keywords":null},{"identifier":"Pyruvate kinase hyperactivity.","acronym":"PKHYP.","accession":"DI-02241","synonyms":"High red cell ATP syndrome.; ","cross_references":"MedGen; C1863224.","definition":"Autosomal dominant phenotype characterized by increase of red blood cell ATP. ","keywords":null},{"identifier":"Pyruvate kinase deficiency of red cells.","acronym":"PKRD.","accession":"DI-00965","synonyms":"Hemolytic anemia due to red cell pyruvate kinase deficiency.; Hereditary non-spherocytic hemolytic anemia due to pyruvate kinase deficiency.; HNSHA.; PK deficiency.; Pyruvate kinase deficiency of erythrocyte.; Pyruvate kinase-deficient hemolytic anemia.; Red cell pyruvate kinase deficiency.; ","cross_references":"MeSH; D000746.","definition":"A frequent cause of hereditary non-spherocytic hemolytic anemia. Clinically, pyruvate kinase-deficient patients suffer from a highly variable degree of chronic hemolysis, ranging from severe neonatal jaundice and fatal anemia at birth, severe transfusion-dependent chronic hemolysis, moderate hemolysis with exacerbation during infection, to a fully compensated hemolysis without apparent anemia. ","keywords":"KW-0360:Hereditary hemolytic anemia.; "},{"identifier":"Pyruvate dehydrogenase phosphatase deficiency.","acronym":"PDP deficiency.","accession":"DI-02240","synonyms":null,"cross_references":"MedGen; C1837429.","definition":"Results in lactic acidosis leading to neurological dysfunction. ","keywords":null},{"identifier":"Pyruvate dehydrogenase E3-binding protein deficiency.","acronym":"PDHXD.","accession":"DI-01872","synonyms":"Lactic acidemia due to defect in lipoyl-containing component X of the pyruvate dehydrogenase complex.; Lacticacidemia due to PDX1 deficiency.; ","cross_references":"MeSH; D000140.","definition":"A metabolic disorder characterized by decreased activity of the pyruvate dehydrogenase complex without observable reduction in the activities of enzymes E1, E2, or E3. Clinical features include hypotonia and psychomotor retardation. ","keywords":null},{"identifier":"Pyruvate dehydrogenase E2 deficiency.","acronym":"PDHE2 deficiency.","accession":"DI-02239","synonyms":"Lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase complex.; ","cross_references":"MedGen; C1855565.","definition":"Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. In this form of PDH deficiency episodic dystonia is the major neurological manifestation, with other more common features of pyruvate dehydrogenase deficiency, such as hypotonia and ataxia, being less prominent. ","keywords":null},{"identifier":"Pyruvate dehydrogenase E1-beta deficiency.","acronym":"PDHBD.","accession":"DI-03205","synonyms":"PDH deficiency.; Pyruvate dehydrogenase deficiency.; ","cross_references":"MeSH; D015325.","definition":"An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis. ","keywords":null},{"identifier":"Pyruvate dehydrogenase E1-alpha deficiency.","acronym":"PDHAD.","accession":"DI-02238","synonyms":"Ataxia intermittent with abnormal pyruvate metabolism.; Ataxia intermittent with pyruvate dehydrogenase or decarboxylase deficiency.; Ataxia with lactic acidosis I.; PDH deficiency.; Pyruvate decarboxylase deficiency.; Pyruvate dehydrogenase deficiency.; ","cross_references":"MeSH; D015325.","definition":"An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis. ","keywords":null},{"identifier":"Pyruvate carboxylase deficiency.","acronym":"PC deficiency.","accession":"DI-02237","synonyms":null,"cross_references":"MedGen; C2931141.","definition":"Leads to lactic acidosis, intellectual disability and death. It occurs in three forms: mild or type A, severe neonatal or type B, and a very mild lacticacidemia. ","keywords":null},{"identifier":"Pyrin-associated autoinflammatory disease.","acronym":"PAAND.","accession":"DI-05865","synonyms":"AFND.; Gomm-Button disease.; Neutrophilic dermatosis, acute febrile.; SS.; Sweet syndrome.; ","cross_references":"MeSH; D056660.","definition":"An autosomal dominant autoinflammatory disorder characterized by childhood onset of recurrent episodes of fever, neutrophilic dermatosis, myalgia and arthralgia. The neutrophilic dermatosis comprises a spectrum of clinical manifestations, including severe acne, sterile skin abscesses, pyoderma gangrenosum, and neutrophilic small-vessel vasculitis. Pathological examination of affected skin shows a dense, predominantly neutrophilic, vascular, perivascular, and interstitial infiltrate. PAAND has incomplete penetrance and variable expressivity. ","keywords":null},{"identifier":"Pyridoxine-5'-phosphate oxidase deficiency.","acronym":"PNPOD.","accession":"DI-02235","synonyms":"PNPO deficiency.; PNPO-related neonatal epileptic encephalopathy.; Seizures, pyridoxine-resistant, PLP-sensitive.; ","cross_references":"MeSH; D012640.","definition":"The main feature of neonatal epileptic encephalopathy is the onset within hours of birth of a severe seizure disorder that does not respond to anticonvulsant drugs and can be fatal. Seizures can cease with the administration of PLP, being resistant to treatment with pyridoxine,. ","keywords":null},{"identifier":"Pyle disease.","acronym":"PYL.","accession":"DI-04785","synonyms":"Metaphyseal dysplasia, Pyle type.; ","cross_references":"MeSH; D010009.","definition":"A disorder characterized by cortical-bone thinning, limb deformity, bone fragility and fractures. ","keywords":null},{"identifier":"Pycnodysostosis.","acronym":"PKND.","accession":"DI-00964","synonyms":null,"cross_references":"MeSH; D058631.","definition":"A rare autosomal recessive bone disorder characterized by deformity of the skull, maxilla and phalanges, osteosclerosis, and fragility of bone. ","keywords":null},{"identifier":"Purine nucleoside phosphorylase deficiency.","acronym":"PNPD.","accession":"DI-02081","synonyms":"Immunodeficiency due to purine nucleoside phosphorylase deficiency.; Nucleoside phosphorylase deficiency.; ","cross_references":"MeSH; D011686.","definition":"A disorder that interrupts both the catabolism of inosine into hypoxanthine and guanosine into guanine, and leads to the accumulation of guanosine, inosine, and their deoxified by-products. The main clinical presentation is recurrent infections due to severe T-cell immunodeficiency. Some patients also have neurologic impairment. ","keywords":null},{"identifier":"Pulmonary venoocclusive disease 2, autosomal recessive.","acronym":"PVOD2.","accession":"DI-04023","synonyms":"Familial pulmonary capillary hemangiomatosis.; ","cross_references":"MeSH; D011668.","definition":"A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension. ","keywords":null},{"identifier":"Pulmonary venoocclusive disease 1, autosomal dominant.","acronym":"PVOD1.","accession":"DI-02233","synonyms":"Pulmonary veno-occlusive disease.; PVOD.; ","cross_references":"MeSH; D011668.","definition":"A disease characterized by widespread fibrous obstruction and intimal thickening of septal veins and preseptal venules, a low diffusing capacity for carbon monoxide, occult alveolar hemorrhage, and nodular ground-glass opacities, septal lines and lymph node enlargement showed by high-resolution computed tomography of the chest. It is frequently associated with pulmonary capillary dilatation and proliferation, and is a rare and devastating cause of pulmonary hypertension. ","keywords":null},{"identifier":"Pulmonary surfactant metabolism dysfunction 5.","acronym":"SMDP5.","accession":"DI-03322","synonyms":"CSF2RB deficiency.; PAP5.; PAP due to CSF2RB deficiency.; Pulmonary alveolar proteinosis 5.; ","cross_references":"MeSH; D011649.","definition":"A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. ","keywords":null},{"identifier":"Pulmonary surfactant metabolism dysfunction 4.","acronym":"SMDP4.","accession":"DI-00963","synonyms":"Congenital pulmonary alveolar proteinosis 4.; CSF2RA deficiency.; PAP.; PAP due to CSF2RA deficiency.; ","cross_references":"MeSH; D011649.","definition":"A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. ","keywords":null},{"identifier":"Pulmonary surfactant metabolism dysfunction 3.","acronym":"SMDP3.","accession":"DI-00962","synonyms":"Congenital pulmonary alveolar proteinosis 3.; Interstitial lung disease due to ABCA3 deficiency.; PAP.; ","cross_references":"MeSH; D011649.","definition":"A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. ","keywords":null}]}