{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5780&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5740&ordering=-identifier","results":[{"identifier":"CHAND syndrome.","acronym":"CHANDS.","accession":"DI-05366","synonyms":"Curly hair, ankyloblepharon, nail dysplasia syndrome.; ","cross_references":"MeSH; D009264.","definition":"An autosomal recessive syndrome characterized by ankyloblepharon, sparse, curly and woolly hair, nail dysplasia, and oral frenula. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Chanarin-Dorfman syndrome.","acronym":"CDS.","accession":"DI-00262","synonyms":"DCS.; Dorfman-Chanarin syndrome.; Ichthyosiform erythroderma with leukocyte vacuolation.; Ichthyotic neutral lipid storage disease.; Neutral lipid storage disease with ichthyosis.; Triglyceride storage disease with impaired long-chain fatty acid oxidation.; ","cross_references":"MeSH; D016113.","definition":"An autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay. The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma. ","keywords":"KW-0209:Deafness.; KW-0898:Cataract.; KW-0977:Ichthyosis.; "},{"identifier":"CFHR5 deficiency.","acronym":"CFHR5D.","accession":"DI-03555","synonyms":"Nephropathy due to CFHR5 deficiency.; ","cross_references":"MeSH; D005921.","definition":"A progressive disease characterized by glomerulonephritis, hematuria, renal failure, end-stage renal disease, subendothelial and mesangial glomerular C3 deposits, mesangial matrix expansion, increased glomerular cellularity, and segmental capillary wall thickening. Hematuria may become apparent after respiratory infections. ","keywords":null},{"identifier":"Cervical cancer.","acronym":"CERCA.","accession":"DI-02838","synonyms":"Cervix cancer.; Uterine cervical cancer.; ","cross_references":"MeSH; D002583.","definition":"A malignant neoplasm of the cervix, typically originating from a dysplastic or premalignant lesion previously present at the active squamocolumnar junction. The transformation from mild dysplastic to invasive carcinoma generally occurs slowly within several years, although the rate of this process varies widely. Carcinoma in situ is particularly known to precede invasive cervical cancer in most cases. Cervical cancer is strongly associated with infection by oncogenic types of human papillomavirus. ","keywords":null},{"identifier":"Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant.","acronym":"CLN8NE.","accession":"DI-00817","synonyms":"EPMR.; ","cross_references":"MeSH; D009472.","definition":"A form of neuronal ceroid lipofuscinosis clinically characterized by epilepsy that presents between 5 and 10 years of age with frequent tonic-clonic seizures followed by progressive intellectual disability. Visual loss is not a prominent feature. Intracellular accumulation of autofluorescent material results in curvilinear and granular profiles on ultrastructural analysis. ","keywords":"KW-0525:Neuronal ceroid lipofuscinosis.; KW-0887:Epilepsy.; "},{"identifier":"Ceroid lipofuscinosis, neuronal, 8.","acronym":"CLN8.","accession":"DI-00816","synonyms":"Turkish variant late infantile NCL.; ","cross_references":"MeSH; D009472.","definition":"A form of neuronal ceroid lipofuscinosis with onset in childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 8 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. ","keywords":"KW-0525:Neuronal ceroid lipofuscinosis.; "},{"identifier":"Ceroid lipofuscinosis, neuronal, 7.","acronym":"CLN7.","accession":"DI-00815","synonyms":"Turkish variant late infantile NCL.; ","cross_references":"MeSH; D009472.","definition":"A form of neuronal ceroid lipofuscinosis with onset in early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 7 comprise mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. ","keywords":"KW-0525:Neuronal ceroid lipofuscinosis.; "},{"identifier":"Ceroid lipofuscinosis, neuronal, 6.","acronym":"CLN6.","accession":"DI-00814","synonyms":"Neuronal ceroid lipofuscinosis 6 with variable age at onset.; Variant late-onset infantile neuronal ceroid lipofuscinosis.; vLINCL.; ","cross_references":"MeSH; D009472.","definition":"An autosomal recessive form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. ","keywords":"KW-0525:Neuronal ceroid lipofuscinosis.; "},{"identifier":"Ceroid lipofuscinosis, neuronal, 5.","acronym":"CLN5.","accession":"DI-00813","synonyms":"Finnish.; Finnish variant late infantile neuronal ceroid lipofuscinosis.; Neuronal ceroid lipofuscinosis 5 with variable age at onset.; vLINCL.; ","cross_references":"MeSH; D009472.","definition":"A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 5 comprise mixed combinations of granular, curvilinear, and fingerprint profiles. ","keywords":"KW-0525:Neuronal ceroid lipofuscinosis.; "},{"identifier":"Ceroid lipofuscinosis, neuronal, 4B (Kufs type), autosomal dominant.","acronym":"CLN4B.","accession":"DI-03226","synonyms":"Kufs disease autosomal dominant.; Neuronal ceroid lipofuscinosis Parry type.; ","cross_references":"MeSH; D009472.","definition":"An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4B has no visual involvement and is characterized by seizures and other neurologic symptoms. ","keywords":"KW-0525:Neuronal ceroid lipofuscinosis.; "},{"identifier":"Ceroid lipofuscinosis, neuronal, 4A (Kufs type), autosomal recessive.","acronym":"CLN4A.","accession":"DI-03163","synonyms":"Adult neuronal ceroid lipofuscinosis.; CLN6 disease Kufs type A.; Kufs disease.; Kufs disease autosomal recessive.; ","cross_references":"MeSH; D009472.","definition":"An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4A has no visual involvement and is characterized by progressive myoclonic epilepsy. ","keywords":"KW-0525:Neuronal ceroid lipofuscinosis.; "},{"identifier":"Ceroid lipofuscinosis, neuronal, 3.","acronym":"CLN3.","accession":"DI-00812","synonyms":"Batten disease.; JNCL.; Juvenile neuronal ceroid lipofuscinosis.; Spielmeyer-Sjogren disease.; Vogt-Spielmeyer disease.; ","cross_references":"MeSH; D009472.","definition":"A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a fingerprint profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane- bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with neuronal ceroid lipofuscinosis type 3. ","keywords":"KW-0525:Neuronal ceroid lipofuscinosis.; "},{"identifier":"Ceroid lipofuscinosis, neuronal, 2.","acronym":"CLN2.","accession":"DI-00811","synonyms":"Jansky-Bielschowsky disease.; Late-infantile neuronal ceroid lipofuscinosis.; LINCL.; Neuronal ceroid lipofuscinosis 2 with variable age at onset.; ","cross_references":"MeSH; D009472.","definition":"A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN2 consists of curvilinear profiles. ","keywords":"KW-0525:Neuronal ceroid lipofuscinosis.; "},{"identifier":"Ceroid lipofuscinosis, neuronal, 13 (Kufs type).","acronym":"CLN13.","accession":"DI-03853","synonyms":"Neuronal ceroid lipofuscinosis 13 Kufs type.; ","cross_references":"MeSH; D009472.","definition":"A form of neuronal ceroid lipofuscinosis characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. CLN13 inheritance is autosomal recessive. ","keywords":"KW-0525:Neuronal ceroid lipofuscinosis.; "},{"identifier":"Ceroid lipofuscinosis, neuronal, 11.","acronym":"CLN11.","accession":"DI-03493","synonyms":null,"cross_references":"MeSH; D009472.","definition":"A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material. ","keywords":"KW-0525:Neuronal ceroid lipofuscinosis.; "},{"identifier":"Ceroid lipofuscinosis, neuronal, 10.","acronym":"CLN10.","accession":"DI-00818","synonyms":"Congenital neuronal ceroid lipofuscinosis.; Neuronal ceroid lipofuscinosis cathepsin d-deficient.; Neuronal ceroid lipofuscinosis due to cathepsin D deficiency.; ","cross_references":"MeSH; D009472.","definition":"A form of neuronal ceroid lipofuscinosis with onset at birth or early childhood. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. ","keywords":"KW-0525:Neuronal ceroid lipofuscinosis.; "},{"identifier":"Ceroid lipofuscinosis, neuronal, 1.","acronym":"CLN1.","accession":"DI-00810","synonyms":"Hagberg-Santavuori disease.; INCL.; Infantile neuronal ceroid lipofuscinosis.; Juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.; Neuronal ceroid lipofuscinosis with variable age at onset.; Santavuori disease.; Santavuori-Haltia disease.; ","cross_references":"MeSH; D009472.","definition":"A form of neuronal ceroid lipofuscinosis with variable age at onset. Infantile, late-infantile, juvenile, and adult onset have been reported. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). ","keywords":"KW-0525:Neuronal ceroid lipofuscinosis.; "},{"identifier":"Cerebrotendinous xanthomatosis.","acronym":"CTX.","accession":"DI-01335","synonyms":"Cerebral cholesterinosis.; ","cross_references":"MeSH; D019294.","definition":"Rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts. ","keywords":null},{"identifier":"Cerebroretinal microangiopathy with calcifications and cysts 3.","acronym":"CRMCC3.","accession":"DI-06680","synonyms":null,"cross_references":"MeSH; D059345.","definition":"An autosomal recessive disorder characterized by intrauterine growth retardation, retinal exudates, global developmental delay, neurologic regression, intracranial calcifications, and leukoencephalopathy. ","keywords":null},{"identifier":"Cerebroretinal microangiopathy with calcifications and cysts 2.","acronym":"CRMCC2.","accession":"DI-04949","synonyms":null,"cross_references":"MeSH; D059345.","definition":"An autosomal recessive, multisystemic disorder characterized by intrauterine growth retardation and, later in life, premature aging symptoms, including poor growth, graying hair, liver fibrosis, portal hypertension, esophageal varices, osteopenia, pancytopenia, hypocellular bone marrow, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain calcifications and white matter changes are responsible for signs including spasticity, ataxia, or dystonia observed in some patients. ","keywords":null}]}