Human Disease List
GET /api/human_diseases/?format=api&offset=1240&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1260&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=1220&ordering=-identifier", "results": [ { "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, 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, 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, 1.", "acronym": "HPC1.", "accession": "DI-01736", "synonyms": "Familial prostate cancer 1.; PRCA1.; ", "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.", "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": "Proprotein convertase 1 deficiency.", "acronym": "PC1 deficiency.", "accession": "DI-02223", "synonyms": null, "cross_references": "MedGen; C1833053.", "definition": "Characterized by obesity, hypogonadism, hypoadrenalism, reactive hypoglycemia as well as marked small-intestinal absorptive dysfunction It is due to impaired processing of prohormones. ", "keywords": null }, { "identifier": "Propionic acidemia type II.", "acronym": "PA-2.", "accession": "DI-02222", "synonyms": null, "cross_references": "MedGen; C0311298.", "definition": "Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein. ", "keywords": null }, { "identifier": "Propionic acidemia type I.", "acronym": "PA-1.", "accession": "DI-02221", "synonyms": null, "cross_references": "MedGen; C0311297.", "definition": "Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein. ", "keywords": null }, { "identifier": "Properdin deficiency.", "acronym": "PFD.", "accession": "DI-02220", "synonyms": null, "cross_references": "MedGen; C1839456.", "definition": "Results in higher susceptibility to bacterial infections; especially to meningococcal infections. Three phenotypes have been reported: complete deficiency (type I), incomplete deficiency (type II), and dysfunction of properdin (type III). ", "keywords": null }, { "identifier": "Prolonged electroretinal response suppression 2.", "acronym": "PERRS2.", "accession": "DI-06665", "synonyms": "Bradyopsia 2.; ", "cross_references": "MeSH; D015785.", "definition": "A form of bradyopsia, an ocular disorder characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia. PERRS2 is an autosomal recessive form with onset in childhood. ", "keywords": null }, { "identifier": "Prolonged electroretinal response suppression 1.", "acronym": "PERRS1.", "accession": "DI-02219", "synonyms": "Bradyopsia.; PERRS.; Prolonged electroretinal response suppression.; ", "cross_references": "MeSH; D015785.", "definition": "A form of bradyopsia, an ocular disorder characterized by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia. PERRS1 is an autosomal recessive form with onset in childhood. ", "keywords": null }, { "identifier": "Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome.", "acronym": "PVHH.", "accession": "DI-02824", "synonyms": "Cerebral proliferative glomeruloid vasculopathy.; Encephaloclastic proliferative vasculopathy.; EPV.; Fowler syndrome.; Hydranencephaly Fowler type.; Hydrocephaly/hydranencephaly due to cerebral vasculopathy.; PGV.; ", "cross_references": "MeSH; D006832.", "definition": "A rare prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. Hydranencephaly is a condition where the greater portions of the cerebral hemispheres and corpus striatum are replaced by cerebrospinal fluid and glial tissue. ", "keywords": null }, { "identifier": "Prolidase deficiency.", "acronym": "PD.", "accession": "DI-02218", "synonyms": null, "cross_references": "MeSH; D056732.", "definition": "A multisystem disorder associated with massive iminodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. Clinical features include skin ulcers, developmental delay, recurrent infections, and a characteristic facies. ", "keywords": null }, { "identifier": "Progressive symmetric erythrokeratodermia.", "acronym": "PSEK.", "accession": "DI-02216", "synonyms": null, "cross_references": "MIM; 133200; phenotype.", "definition": "Erythrokeratodermas are a group of disorders characterized by widespread erythematous plaques, either stationary or migratory, associated with features that include palmoplantar keratoderma. PSEK is characterized by erythematous and hyperkeratotic plaques. ", "keywords": null }, { "identifier": "Progressive supranuclear palsy 1.", "acronym": "PSNP1.", "accession": "DI-02215", "synonyms": "PSP.; Steele-Richardson-Olszewski syndrome.; ", "cross_references": "MedGen; C0038868.", "definition": "Characterized by akinetic-rigid syndrome, supranuclear gaze palsy, pyramidal tract dysfunction, pseudobulbar signs and cognitive capacities deterioration. Neurofibrillary tangles and gliosis but no amyloid plaques are found in diseased brains. Most cases appear to be sporadic, with a significant association with a common haplotype including the MAPT gene and the flanking regions. Familial cases show an autosomal dominant pattern of transmission with incomplete penetrance; genetic analysis of a few cases showed the occurrence of tau mutations, including a deletion of Asn-613. ", "keywords": null }, { "identifier": "Progressive pseudorheumatoid dysplasia.", "acronym": "PPRD.", "accession": "DI-02213", "synonyms": "Arthropathy, progressive pseudorheumatoid, of childhood.; PPAC.; PPD.; Progressive pseudorheumatoid arthropathy of childhood.; SEDT-PA.; Spondyloepiphyseal dysplasia tarda with progressive arthropathy;.; ", "cross_references": "MeSH; D007592.", "definition": "An autosomal recessive disorder characterized by stiffness and swelling of joints, motor weakness and joint contractures. Signs and symptoms of the disease develop typically between three and eight years of age. This progressive disease is a primary disorder of articular cartilage with continued cartilage loss and destructive bone changes with aging. ", "keywords": null }, { "identifier": "Progressive osseous heteroplasia.", "acronym": "POH.", "accession": "DI-02212", "synonyms": null, "cross_references": "MedGen; CN034473.", "definition": "Rare autosomal dominant disorder characterized by extensive dermal ossification during childhood, followed by disabling and widespread heterotopic ossification of skeletal muscle and deep connective tissue. ", "keywords": null }, { "identifier": "Progressive familial heart block 1B.", "acronym": "PFHB1B.", "accession": "DI-02825", "synonyms": "Cardiac conduction block.; PFHBIB.; Progressive familial heart block type IB.; Right-bundle branch block.; ", "cross_references": "MeSH; D002037.", "definition": "A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death. ", "keywords": null }, { "identifier": "Progressive familial heart block 1A.", "acronym": "PFHB1A.", "accession": "DI-00948", "synonyms": "Bundle branch block.; Cardiac conduction defect.; HBBD.; Hereditary bundle branch system defect.; Lenegre-Lev disease.; PCCD.; PFHBIA.; Progressive cardiac conduction defect.; Progressive familial heart block type I.; Progressive familial heart block type IA.; ", "cross_references": "MeSH; D002037.", "definition": "A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death. ", "keywords": null }, { "identifier": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6.", "acronym": "PEOB6.", "accession": "DI-06811", "synonyms": null, "cross_references": "MeSH; D017246.", "definition": "A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged red fibers are seen on muscle biopsy. ", "keywords": "KW-0935:Progressive external ophthalmoplegia.; " } ] }