{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5380","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5340","results":[{"identifier":"Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome.","acronym":"PMGEDSV.","accession":"DI-05505","synonyms":"Polymicrogyria with or without vascular-type EDS.; ","cross_references":"MeSH; D065706.","definition":"An autosomal recessive disorder with a highly variable phenotype and onset in early childhood. Disease features include cobblestone-like malformation of the cortex, polymicrogyria, intellectual and motor developmental delay, small joint hypermobility, vascular fragility, aneurysms, thin translucent skin and easy bruising, congenital heart defects, and foot deformities. Early death due to vascular dissection may occur. ","keywords":"KW-0248:Ehlers-Danlos syndrome.; "},{"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":"Polyposis syndrome, mixed hereditary 1.","acronym":"HMPS1.","accession":"DI-03478","synonyms":"Colorectal adenoma and carcinoma 1.; CRAC1.; ","cross_references":"MeSH; D018256.","definition":"A disease characterized by apparent autosomal dominant inheritance of multiple types of colorectal polyp, with colorectal carcinoma occurring in a high proportion of affected individuals. Patients can develop polyps of multiple and mixed morphologies, including serrated lesions, Peutz-Jeghers polyps, juvenile polyps, conventional adenomas and colorectal carcinoma in the absence of any identifiable extra- colonic features. ","keywords":null},{"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":"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":"Pontocerebellar hypoplasia 11.","acronym":"PCH11.","accession":"DI-05084","synonyms":"Pontocerebellar hypoplasia, type 11.; ","cross_references":"MeSH; D002526.","definition":"A non-degenerative form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH11 features include severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia. PCH11 inheritance is autosomal recessive. ","keywords":null},{"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":"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 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":"Pontocerebellar hypoplasia 15.","acronym":"PCH15.","accession":"DI-06088","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. PCH15 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 spastic quadriplegia, early-onset seizures, and chronic anemia and thrombocytopenia. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Pontocerebellar hypoplasia 16.","acronym":"PCH16.","accession":"DI-06227","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. PCH16 is an autosomal recessive, severe form characterized by hypotonia and severe global developmental delay apparent from early infancy. Other features may include stereotypic movements, spasticity, and progressive microcephaly. ","keywords":null},{"identifier":"Pontocerebellar hypoplasia 17.","acronym":"PCH17.","accession":"DI-06442","synonyms":"Pontocerebellar hypoplasia, type 17.; ","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. PCH17 is an autosomal recessive, severe form clinically characterized by neonatal hypotonia, feeding and respiratory difficulties, central apnea, and bradycardia. Most affected individuals die in infancy. Brain imaging shows cerebellar and brainstem hypoplasia. ","keywords":null},{"identifier":"Pontocerebellar hypoplasia 1A.","acronym":"PCH1A.","accession":"DI-02626","synonyms":"Pontocerebellar hypoplasia with anterior horn cell disease.; Pontocerebellar hypoplasia with infantile spinal muscular atrophy.; ","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. PCH1A is an autosomal recessive form characterized by an abnormally small cerebellum and brainstem, central and peripheral motor dysfunction from birth, gliosis and spinal cord anterior horn cells degeneration resembling infantile spinal muscular atrophy. Additional features include muscle hypotonia, congenital contractures and respiratory insufficiency that is evident at birth. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Pontocerebellar hypoplasia 1B.","acronym":"PCH1B.","accession":"DI-03477","synonyms":null,"cross_references":"MeSH; D002526.","definition":"A severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Pontocerebellar hypoplasia 1C.","acronym":"PCH1C.","accession":"DI-04273","synonyms":null,"cross_references":"MeSH; D002526.","definition":"A severe autosomal recessive neurodegenerative disease characterized by cerebellar and corpus callosum hypoplasia, abnormal myelination of the central nervous system, and spinal motor neuron disease. Affected individuals manifest failure to thrive, severe muscle weakness, spasticity and psychomotor retardation. Vision and hearing are impaired. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Pontocerebellar hypoplasia 1D.","acronym":"PCH1D.","accession":"DI-05293","synonyms":"Pontocerebellar hypoplasia, type 1D.; ","cross_references":"MeSH; D002526.","definition":"An autosomal recessive neurologic disorder with onset at birth or in infancy, and characterized by progressive axonal motor neuronopathy, severe generalized hypotonia, respiratory insufficiency, and cerebellar atrophy. Death in childhood may occur. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Pontocerebellar hypoplasia 1E.","acronym":"PCH1E.","accession":"DI-06092","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. PCH1E is an autosomal recessive form characterized by severe hypotonia and respiratory insufficiency apparent soon after birth. Additional features may include optic atrophy, peripheral neuropathy, dysmorphic features, congenital contracture or foot deformities, and seizures. Death occurs in the first days or weeks of life. Postmortem brain imaging show pontocerebellar atrophy and loss of anterior motor neurons in the spinal cord. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Pontocerebellar hypoplasia 1F.","acronym":"PCH1F.","accession":"DI-06093","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. PCH1F is an autosomal recessive form characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features. Brain imaging shows pontocerebellar hypoplasia, thin corpus callosum, cerebral atrophy, and delayed myelination. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Pontocerebellar hypoplasia 2A.","acronym":"PCH2A.","accession":"DI-02176","synonyms":"PCH2.; Pontocerebellar hypoplasia with progressive cerebral atrophy.; Volendam neurodegenerative disease.; ","cross_references":"MeSH; D002526.","definition":"A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration. ","keywords":"KW-0523:Neurodegeneration.; "},{"identifier":"Pontocerebellar hypoplasia 2B.","acronym":"PCH2B.","accession":"DI-02177","synonyms":null,"cross_references":"MeSH; D002526.","definition":"A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration. ","keywords":"KW-0523:Neurodegeneration.; "}]}