{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5400&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=5360&ordering=-identifier","results":[{"identifier":"Congenital disorder of glycosylation 1I.","acronym":"CDG1I.","accession":"DI-00341","synonyms":"CDGIi.; CDG Ii.; CDG-Ii.; Congenital disorder of glycosylation type Ii.; ","cross_references":"MeSH; D018981.","definition":"A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Congenital disorder of glycosylation 1H.","acronym":"CDG1H.","accession":"DI-00340","synonyms":"CDGIh.; CDG Ih.; CDG-Ih.; Congenital disorder of glycosylation type Ih.; ","cross_references":"MeSH; D018981.","definition":"A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Congenital disorder of glycosylation 1G.","acronym":"CDG1G.","accession":"DI-00339","synonyms":"CDGIg.; CDG Ig.; CDG-Ig.; Congenital disorder of glycosylation type Ig.; ","cross_references":"MeSH; D018981.","definition":"A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Congenital disorder of glycosylation 1F.","acronym":"CDG1F.","accession":"DI-00338","synonyms":"CDGIf.; CDG If.; CDG-If.; Congenital disorder of glycosylation type If.; ","cross_references":"MeSH; D018981.","definition":"A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Congenital disorder of glycosylation 1E.","acronym":"CDG1E.","accession":"DI-00337","synonyms":null,"cross_references":"MeSH; D018981.","definition":"A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Some CDG1E patients have features consistent with a dystroglycanopathy and congenital muscular dystrophy, including O-mannosylation defect, camptodactyly, elevated creatine kinase, motor delay and dystrophic changes on muscel biopsy. ","keywords":"KW-0900:Congenital disorder of glycosylation.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Congenital disorder of glycosylation 1D.","acronym":"CDG1D.","accession":"DI-00336","synonyms":"Carbohydrate-deficient glycoprotein syndrome type IV.; CDGS4.; ","cross_references":"MeSH; D018981.","definition":"A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Congenital disorder of glycosylation 1CC.","acronym":"CDG1CC.","accession":"DI-05648","synonyms":"Congenital disorder of glycosylation, type Icc.; ","cross_references":"MeSH; D018981.","definition":"A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1CC is an X-linked recessive form mainly characterized by intellectual and developmental disability. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Congenital disorder of glycosylation 1C.","acronym":"CDG1C.","accession":"DI-00335","synonyms":"Carbohydrate-deficient glycoprotein syndrome type V.; CDGS5.; ","cross_references":"MeSH; D018981.","definition":"A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Congenital disorder of glycosylation 1BB.","acronym":"CDG1BB.","accession":"DI-05282","synonyms":null,"cross_references":"MeSH; D018981.","definition":"A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1BB inheritance is autosomal recessive. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Congenital disorder of glycosylation 1B.","acronym":"CDG1B.","accession":"DI-00334","synonyms":"Carbohydrate-deficient glycoprotein syndrome type Ib.; CDG gastrointestinal type.; CDGIb.; CDG Ib.; CDG-Ib.; CDGS1B.; Congenital disorder of glycosylation type Ib.; Mannosephosphate isomerase deficiency.; MPI deficiency.; Protein-losing enteropathy-hepatic fibrosis syndrome.; Saguenay-Lac Saint-Jean syndrome.; SLSJ syndrome.; ","cross_references":"MeSH; D018981.","definition":"A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1B is clinically characterized by protein-losing enteropathy. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Congenital disorder of glycosylation 1AA.","acronym":"CDG1AA.","accession":"DI-04809","synonyms":"Congenital disorder of glycosylation, type 1aa.; ","cross_references":"MeSH; D018981.","definition":"A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1AA inheritance is autosomal recessive. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Congenital disorder of glycosylation 1A.","acronym":"CDG1A.","accession":"DI-00333","synonyms":"Carbohydrate-deficient glycoprotein syndrome type Ia.; CDGIa.; CDG Ia.; CDG-Ia.; CDGS1A.; Congenital disorder of glycosylation type Ia.; Jaeken's syndrome.; Jaeken syndrome.; Phosphomannomutase 2 deficiency.; PMM2 deficiency.; ","cross_references":"MeSH; D018981.","definition":"A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1A is an autosomal recessive disorder characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, and pronounced psychomotor retardation, as well as peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa. Patients show a peculiar distribution of subcutaneous fat, nipple retraction, and hypogonadism. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Congenital disorder of deglycosylation 2.","acronym":"CDDG2.","accession":"DI-06360","synonyms":null,"cross_references":"MeSH; D002239.","definition":"An autosomal recessive disorder characterized by facial dysmorphism, congenital anomalies such as tongue hamartoma, variable degrees of intellectual disability, and brain anomalies including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis. ","keywords":null},{"identifier":"Congenital disorder of deglycosylation 1.","acronym":"CDDG1.","accession":"DI-03774","synonyms":"CDDG.; CDG1V.; CDGIv.; CDG Iv.; CDG-Iv.; Congenital disorder of deglycosylation.; Congenital disorder of glycosylation 1V.; Congenital disorder of glycosylation type Iv.; ","cross_references":"MeSH; D002239.","definition":"An autosomal recessive multisystem disorder characterized by developmental delay, hypotonia, abnormal involuntary movements and alacrima or poor tear production. Other features include microcephaly, intractable seizures, abnormal eye movements and evidence of liver dysfunction, probably due to cytoplasmic accumulation of storage material in vacuoles. ","keywords":null},{"identifier":"Congenital contractures of the limbs and face, hypotonia, and developmental delay.","acronym":"CLIFAHDD.","accession":"DI-04355","synonyms":null,"cross_references":"MeSH; D001176.","definition":"A disease characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, abnormal tone, most commonly manifested as hypotonia, and variable degrees of developmental delay. ","keywords":null},{"identifier":"Congenital cataracts, facial dysmorphism, and neuropathy.","acronym":"CCFDN.","accession":"DI-01390","synonyms":null,"cross_references":"MeSH; D000015.","definition":"An autosomal recessive developmental disorder characterized by a complex clinical phenotype with seemingly unrelated features involving multiple organs and systems. Developmental abnormalities include congenital cataracts and microcorneae, hypomyelination of the peripheral nervous system, impaired physical growth, delayed early motor and intellectual development, facial dysmorphism and hypogonadism. Central nervous system involvement, with cerebral and spinal cord atrophy, may be the result of disrupted development with superimposed degenerative changes. Affected individuals are prone to severe rhabdomyolysis after viral infections and to serious complications related to general anesthesia (such as pulmonary edema and epileptic seizures). ","keywords":"KW-0622:Neuropathy.; KW-0898:Cataract.; "},{"identifier":"Congenital bile acid synthesis defect 6.","acronym":"CBAS6.","accession":"DI-04924","synonyms":null,"cross_references":"MeSH; D002780.","definition":"An inborn error of bile acid synthesis characterized by abnormally increased liver enzymes, hypolipidemia and low cholesterol, vitamin D deficiency, elevated plasma and urinary levels of C27 intermediate bile acids 3alpha,7alpha-dihydroxy-5beta-cholestanoic acid (DHCA) and 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoic acid (THCA). Serum levels of phytanic and pristanic acids are normal. Clinical features include liver fibrosis, mild ataxia, delayed development, and cognitive impairment. Liver histology shows many thin fibrous septa, swollen hepatocytes, glycogenated nuclei, and focal acinar transformation, consistent with hepatocellular injury and regeneration, without signs of obvious cholestasis, cholate stasis, or steatosis. CBAS6 transmission pattern is consistent with autosomal recessive inheritance. ","keywords":null},{"identifier":"Congenital bile acid synthesis defect 5.","acronym":"CBAS5.","accession":"DI-04360","synonyms":null,"cross_references":"MeSH; D008107.","definition":"An autosomal recessive disorder characterized by hepatosplenomegaly, hepatic fibrosis, progressive liver failure, and accumulation of peroxisomal C27-bile acid intermediates in plasma. ","keywords":null},{"identifier":"Congenital bile acid synthesis defect 4.","acronym":"CBAS4.","accession":"DI-00332","synonyms":"Intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid.; Trihydroxycoprostanic acid in bile.; ","cross_references":"MeSH; D002780.","definition":"A disorder characterized by the presence of trihydroxycoprostanic acid in the bile and absence of cholic acid. Patients manifest neonatal jaundice, intrahepatic cholestasis and bile duct deficiency. ","keywords":"KW-0988:Intrahepatic cholestasis.; "},{"identifier":"Congenital bile acid synthesis defect 3.","acronym":"CBAS3.","accession":"DI-00331","synonyms":null,"cross_references":"MeSH; D002780.","definition":"A disorder resulting in severe cholestasis, cirrhosis and liver synthetic failure. Hepatic microsomal oxysterol 7-alpha-hydroxylase activity is undetectable. ","keywords":"KW-0988:Intrahepatic cholestasis.; "}]}