{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5500&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5460&ordering=identifier","results":[{"identifier":"Prostate cancer, hereditary, 11.","acronym":"HPC11.","accession":"DI-02662","synonyms":"Familial prostate cancer 11.; ","cross_references":"MeSH; D011471.","definition":"A condition associated with familial predisposition to cancer 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":"Prostate cancer, hereditary, 12.","acronym":"HPC12.","accession":"DI-02661","synonyms":"Familial prostate cancer 12.; ","cross_references":"MeSH; D011471.","definition":"A condition associated with familial predisposition to cancer 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":"Prostate cancer, hereditary, 13.","acronym":"HPC13.","accession":"DI-02660","synonyms":"Familial prostate cancer 13.; ","cross_references":"MeSH; D011471.","definition":"A condition associated with familial predisposition to cancer 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":"Prostate cancer, hereditary, 2.","acronym":"HPC2.","accession":"DI-03498","synonyms":"Familial prostate cancer 2.; ","cross_references":"MeSH; D011471.","definition":"A condition associated with familial predisposition to cancer 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":"Prostate cancer, hereditary, 9.","acronym":"HPC9.","accession":"DI-06719","synonyms":null,"cross_references":"MeSH; D011471.","definition":"A condition associated with familial predisposition to cancer 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":"Proteasome-associated autoinflammatory syndrome 1.","acronym":"PRAAS1.","accession":"DI-03009","synonyms":"Autoinflammation, lipodystrophy, and dermatosis syndrome.; CANDLE.; Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome.; JMP syndrome.; Joint contractures muscular atrophy microcytic anemia and panniculitis-induced lipodystrophy.; Nakajo-Nishimura syndrome.; Nakajo syndrome.; NKJO.; NNS.; Nodular erythema with digital changes.; Secondary hypertrophic osteoperiostosis with pernio.; ","cross_references":"MeSH; D008060.","definition":"An autosomal recessive autoinflammatory disorder characterized by early childhood onset of recurrent fever, joint stiffness and severe contractures of the hands and feet, and erythematous skin lesions with subsequent development of lipodystrophy and laboratory evidence of immune dysregulation. Accompanying features may include muscle weakness and atrophy, hepatosplenomegaly, and microcytic anemia. ","keywords":null},{"identifier":"Proteasome-associated autoinflammatory syndrome 2.","acronym":"PRAAS2.","accession":"DI-05287","synonyms":null,"cross_references":"MeSH; D056660.","definition":"An autosomal dominant autoinflammatory disorder characterized by onset in early infancy and severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency. ","keywords":null},{"identifier":"Proteasome-associated autoinflammatory syndrome 3.","acronym":"PRAAS3.","accession":"DI-05286","synonyms":"Proteasome-associated autoinflammatory syndrome 3, digenic.; ","cross_references":"MeSH; D056660.","definition":"An autoinflammatory disorder characterized by onset in early infancy and recurrent fever, nodular dermatitis, myositis, panniculitis- induced lipodystrophy, lymphadenopathy, and immune dysregulation. Variable accompanying features may include joint contractures, hepatosplenomegaly, anemia, thrombocytopenia, recurrent infections, autoantibodies, and hypergammaglobulinemia. Some patients may have intracranial calcifications. PRAAS3 inheritance is autosomal recessive or digenic. ","keywords":null},{"identifier":"Proteasome-associated autoinflammatory syndrome 4.","acronym":"PRAAS4.","accession":"DI-06047","synonyms":null,"cross_references":"MeSH; D056660.","definition":"An autosomal recessive, autoinflammatory disorder characterized by panniculitis and erythematous skin lesions apparent in early infancy. Additional features include hepatosplenomegaly, lymphadenopathy, autoimmune hemolytic anemia, fever, generalized lipodystrophy, myositis, joint contractures, and mild motor and speech delay. ","keywords":null},{"identifier":"Proteasome-associated autoinflammatory syndrome 5.","acronym":"PRAAS5.","accession":"DI-06029","synonyms":null,"cross_references":"MeSH; D056660.","definition":"An autosomal recessive, autoinflammatory disorder characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration in the skin, fever, failure to thrive, and persistent hepatosplenomegaly. Disease onset is in early infancy. ","keywords":null},{"identifier":"Proteasome-associated autoinflammatory syndrome 6.","acronym":"PRAAS6.","accession":"DI-06890","synonyms":null,"cross_references":"MeSH; D056660.","definition":"An autosomal dominant, autoinflammatory disorder characterized by recurrent fever, skin rash, myositis, liver dysfunction, splenomegaly, pulmonary hypertension, and basal ganglia calcifications. Disease onset is in early infancy. ","keywords":null},{"identifier":"Proteinuria, chronic benign.","acronym":"PROCHOB.","accession":"DI-05842","synonyms":null,"cross_references":"MeSH; D011507.","definition":"An autosomal recessive condition characterized by isolated, non- progressive proteinuria in absence of renal disease and hypertension. Onset of proteinuria is in the first decade of life. ","keywords":null},{"identifier":"Proteus syndrome.","acronym":"PROTEUSS.","accession":"DI-03216","synonyms":"Partial gigantism of hands and feet nevi hemihypertrophy and macrocephaly.; ","cross_references":"MeSH; D016715.","definition":"A highly variable, severe disorder of asymmetric and disproportionate overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, and vascular malformations. Many features of Proteus syndrome overlap with other overgrowth syndromes. ","keywords":null},{"identifier":"Protoporphyria, erythropoietic, 1.","acronym":"EPP1.","accession":"DI-00484","synonyms":"EPP.; Erythrohepatic protoporphyria.; Erythropoietic protoporphyria.; Ferrochelatase deficiency.; Heme synthetase deficiency.; ","cross_references":"MeSH; D046351.","definition":"An autosomal recessive form of porphyria with onset usually before age 10 years. 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. Erythropoietic protoporphyria is marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals. ","keywords":null},{"identifier":"Protoporphyria, erythropoietic, 2.","acronym":"EPP2.","accession":"DI-05274","synonyms":null,"cross_references":"MeSH; D046351.","definition":"An autosomal dominant form of porphyria with onset in infancy. 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. Erythropoietic protoporphyria is marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals. ","keywords":null},{"identifier":"Prune belly syndrome.","acronym":"PBS.","accession":"DI-03312","synonyms":"Abdominal muscle deficiency syndrome.; Absence of abdominal muscles with urinary tract abnormality and cryptorchidism.; Eagle-Barrett syndrome.; EGBRS.; ","cross_references":"MeSH; D011535.","definition":"A syndrome characterized by thin abdominal musculature with overlying lax skin, cryptorchism, megacystis with disorganized detrusor muscle, and urinary tract abnormalities. ","keywords":null},{"identifier":"Pseudoachondroplasia.","acronym":"PSACH.","accession":"DI-02227","synonyms":"Pseudoachondroplastic dysplasia.; Spondyloepiphyseal dysplasia pseudoachondroplastic.; ","cross_references":"MeSH; D010009.","definition":"A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly, ligamentous laxity, and degenerative joint disease. ","keywords":null},{"identifier":"Pseudofolliculitis barbae.","acronym":"PFB.","accession":"DI-05647","synonyms":"Ingrown hairs.; Pili incarnati.; ","cross_references":"MeSH; D006201.","definition":"A common hair disorder characterized by a pustular foreign body inflammatory reaction that is induced by ingrown hairs of the facial and submental (barbea) regions after regular shaving. It primarily affects curly haired males. The etiology of PFB is multifactorial. ","keywords":null},{"identifier":"Pseudohyperkalemia, familial, 2, due to red cell leak.","acronym":"PSHK2.","accession":"DI-04131","synonyms":"Cryohydrocytosis, mild.; Pseudohyperkalemia Cardiff.; Pseudohyperkalemia Chiswick.; Pseudohyperkalemia East London.; Pseudohyperkalemia Falkirk.; Pseudohyperkalemia Lille.; ","cross_references":"MeSH; D006947.","definition":"A dominantly inherited condition characterized by increased serum potassium levels, measured in whole-blood specimens stored at or below room temperature. This condition is not accompanied by clinical symptoms or biological signs except for borderline abnormalities of red cell shape. ","keywords":null},{"identifier":"Pseudohypoaldosteronism 1, autosomal dominant.","acronym":"PHA1A.","accession":"DI-01224","synonyms":"PHA type I, autosomal dominant.; Pseudohypoaldosteronism type I, autosomal dominant.; ","cross_references":"MeSH; D011546.","definition":"A salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. PHA1A is a mild form characterized by target organ defects confined to kidney. Patients may present with neonatal renal salt wasting with hyperkalaemic acidosis despite high aldosterone levels. These patients improve with age and usually become asymptomatic without treatment. ","keywords":null}]}