{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6440&ordering=synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6400&ordering=synonyms","results":[{"identifier":"Pontocerebellar hypoplasia 14.","acronym":"PCH14.","accession":"DI-06087","synonyms":null,"cross_references":"MeSH; D002526.","definition":"A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH14 is a severe autosomal recessive form characterized by progressive microcephaly, and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include hypotonia, spastic quadriplegia, and early- onset seizures. Early death may occur in some patients. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Thrombophilia due to thrombomodulin defect.","acronym":"THPH12.","accession":"DI-01102","synonyms":null,"cross_references":"MeSH; D019851.","definition":"A hemostatic disorder characterized by a tendency to thrombosis. ","keywords":"KW-0792:Thrombophilia.; "},{"identifier":"Thrombophilia, X-linked, due to factor IX defect.","acronym":"THPH8.","accession":"DI-02524","synonyms":null,"cross_references":"MeSH; D019851.","definition":"A hemostatic disorder characterized by a tendency to thrombosis. ","keywords":"KW-0792:Thrombophilia.; "},{"identifier":"Pontocerebellar hypoplasia 13.","acronym":"PCH13.","accession":"DI-05671","synonyms":null,"cross_references":"MeSH; D002526.","definition":"A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH13 is an autosomal recessive form characterized by delayed psychomotor development, absent speech, severe intellectual disability and postnatal microcephaly, with brain malformations consisting of cerebellar atrophy and hypoplastic corpus callosum. Additional features, including seizures and visual impairment, are variable. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Pontocerebellar hypoplasia 12.","acronym":"PCH12.","accession":"DI-05445","synonyms":null,"cross_references":"MeSH; D002526.","definition":"A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH12 is an autosomal recessive form characterized by onset in utero and death in infancy. Brain imaging shows microcephaly, cerebellar hypoplasia, micrognathia, and multiple contractures. ","keywords":null},{"identifier":"Thyroid cancer, non-medullary, 2.","acronym":"NMTC2.","accession":"DI-04532","synonyms":null,"cross_references":"MeSH; D013964.","definition":"A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. ","keywords":null},{"identifier":"Pontocerebellar hypoplasia 10.","acronym":"PCH10.","accession":"DI-04087","synonyms":null,"cross_references":"MeSH; D002526.","definition":"A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH10 features include cortical dysgenesis marked by a simplified gyral pattern, cortical atrophy, mild or focal cerebellar vermian volume loss, delayed myelination, progressive microcephaly, global growth and developmental delays, severe intellectual disabilities, and seizures refractory to treatment. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Polyposis syndrome, mixed hereditary 2.","acronym":"HMPS2.","accession":"DI-01724","synonyms":null,"cross_references":"MeSH; D018256.","definition":"A disease is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas. ","keywords":null},{"identifier":"Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.","acronym":"PHARC.","accession":"DI-02920","synonyms":null,"cross_references":"MeSH; D015417.","definition":"A slowly progressive neurologic disorder with a variable phenotype resembling Refsum disease. Clinical features include sensorineural hearing loss, visual problems related to cataracts, retinitis pigmentosa, pes cavus, ataxic and/or spastic gait disturbances with a progressive sensorimotor peripheral neuropathy. Other features include hyporeflexia, hyperreflexia, extensor plantar responses. ","keywords":"KW-0209:Deafness.; KW-0622:Neuropathy.; KW-0682:Retinitis pigmentosa.; KW-0898:Cataract.; "},{"identifier":"Polymicrogyria, bilateral temporooccipital.","acronym":"BTOP.","accession":"DI-04237","synonyms":null,"cross_references":"MeSH; D065706.","definition":"A disease characterized by temporo-occipital polymicrogyria, psychiatric manifestations, and epilepsy. ","keywords":null},{"identifier":"Polyglucosan body myopathy 2.","acronym":"PGBM2.","accession":"DI-04312","synonyms":null,"cross_references":"MeSH; D009135.","definition":"A glycogen storage disease characterized by polyglucosan accumulation in muscle, and skeletal myopathy without cardiac involvement. Most patients manifest slowly progressive, hip girdle, shoulder girdle, and/or hand and leg muscle weakness. Polyglucosan contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase. ","keywords":"KW-0322:Glycogen storage disease.; "},{"identifier":"Polyendocrine-polyneuropathy syndrome.","acronym":"PEPNS.","accession":"DI-04291","synonyms":null,"cross_references":"MeSH; D011115.","definition":"A progressive endocrine and neurodevelopmental disorder manifesting early in childhood with growth retardation and recurrent episodes of profound asymptomatic hypoglycemia. PEPNS is characterized by central hypothyroidism, hypogonadotropic hypogonadism, incomplete puberty, progressive non-autoimmune insulin-dependent diabetes mellitus, peripheral demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. ","keywords":"KW-0219:Diabetes mellitus.; KW-0622:Neuropathy.; KW-1016:Hypogonadotropic hypogonadism.; "},{"identifier":"Polydactyly-macrocephaly syndrome.","acronym":"PDMCS.","accession":"DI-06845","synonyms":null,"cross_references":"MeSH; D058627.","definition":"An autosomal dominant syndrome characterized by progressive macrocephaly and post-axial polydactyly, a condition defined by the occurrence of supernumerary digits affecting the fifth finger and/or toe. Additional variable features include ocular anomalies, global developmental delay and autistic traits. ","keywords":null},{"identifier":"Polydactyly, postaxial, A9.","acronym":"PAPA9.","accession":"DI-05433","synonyms":null,"cross_references":"MeSH; D017689.","definition":"A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well- formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA9 is an autosomal recessive condition characterized by one or more posterior or postaxial digits. ","keywords":null},{"identifier":"Polydactyly, postaxial, A10.","acronym":"PAPA10.","accession":"DI-05613","synonyms":null,"cross_references":"MeSH; D017689.","definition":"A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well- formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA10 is an autosomal recessive condition characterized by one or more postaxial digits of the hands and/or feet. A rudimentary digit (PAP type B) may also be present. Intrafamilial variability has been observed. ","keywords":null},{"identifier":"Thyroid hormone metabolism, abnormal, 2.","acronym":"THMA2.","accession":"DI-06406","synonyms":null,"cross_references":"MeSH; D013959.","definition":"An autosomal dominant disorder characterized by slightly increased thyroid-stimulating hormone levels, and elevated serum reverse triiodothyronine (rT3) levels and rT3/T3 ratios. ","keywords":null},{"identifier":"Polydactyly, postaxial B.","acronym":"PAPB.","accession":"DI-03100","synonyms":null,"cross_references":"MeSH; D017689.","definition":"A condition characterized by an extra digit in the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type B the extra digit is not well formed and is frequently in the form of a skin. ","keywords":null},{"identifier":"Polydactyly, postaxial A6.","acronym":"PAPA6.","accession":"DI-03746","synonyms":null,"cross_references":"MeSH; D017689.","definition":"A condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. ","keywords":null},{"identifier":"Polycystic liver disease 4 with or without kidney cysts.","acronym":"PCLD4.","accession":"DI-05195","synonyms":null,"cross_references":"MeSH; D008107.","definition":"A form of polycystic liver disease, an autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. PCLD4 patients may also develop kidney cysts that usually do not result in clinically significant renal disease. ","keywords":null},{"identifier":"Polycystic liver disease 3 with or without kidney cysts.","acronym":"PCLD3.","accession":"DI-05194","synonyms":null,"cross_references":"MeSH; D008107.","definition":"A form of polycystic liver disease, an autosomal dominant hepatobiliary disease characterized by overgrowth of biliary epithelium and supportive connective tissue, resulting in multiple liver cysts. PCLD3 patients may also develop kidney cysts that usually do not result in clinically significant renal disease. ","keywords":null}]}