{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1360","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1320","results":[{"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 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 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 1J.","acronym":"CDG1J.","accession":"DI-00342","synonyms":"CDGIj.; CDG Ij.; CDG-Ij.; Congenital disorder of glycosylation type Ij.; ","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 1K.","acronym":"CDG1K.","accession":"DI-00343","synonyms":"CDGIk.; CDG Ik.; CDG-Ik.; Congenital disorder of glycosylation type Ik.; ","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 1L.","acronym":"CDG1L.","accession":"DI-00344","synonyms":"CDGIl.; CDG Il.; CDG-Il.; Congenital disorder of glycosylation type Il.; ","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 1M.","acronym":"CDG1M.","accession":"DI-00345","synonyms":"CDGIm.; CDG Im.; CDG-Im.; Congenital disorder of glycosylation type Im.; DK1 deficiency.; Dolichol kinase 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. CDG1M is a very severe disease with death occurring in early life. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Congenital disorder of glycosylation 1N.","acronym":"CDG1N.","accession":"DI-00346","synonyms":"CDGIn.; CDG In.; CDG-In.; Congenital disorder of glycosylation type In.; ","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 1P.","acronym":"CDG1P.","accession":"DI-02950","synonyms":"CDGIp.; CDG Ip.; CDG-Ip.; Congenital disorder of glycosylation type Ip.; ","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 1Q.","acronym":"CDG1Q.","accession":"DI-02863","synonyms":"CDGIq.; CDG Iq.; CDG-Iq.; Congenital disorder of glycosylation 1q.; Congenital disorder of glycosylation type Iq.; Ocular coloboma ichthyosis brain malformations and endocrine abnormalities.; ","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 1R.","acronym":"CDG1R.","accession":"DI-03397","synonyms":"CDGIr.; CDG Ir.; CDG-Ir.; Congenital disorder of glycosylation 1r.; Congenital disorder of glycosylation type Ir.; ","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 1T.","acronym":"CDG1T.","accession":"DI-03611","synonyms":"CDGIt.; CDG It.; CDG-It.; Congenital disorder of glycosylation type It.; Glycogen storage disease XIV.; GSD14.; GSD XIV.; PGM1 deficiency.; Phosphoglucomutase 1 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. ","keywords":"KW-0322:Glycogen storage disease.; KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Congenital disorder of glycosylation 1U.","acronym":"CDG1U.","accession":"DI-03685","synonyms":"CDGIu.; CDG Iu.; CDG-Iu.; Congenital disorder of glycosylation type Iu.; ","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 CDG1U patients have dystrophic changes seen on muscle biopsy and reduced O-mannosyl glycans on alpha- dystroglycan. ","keywords":"KW-0900:Congenital disorder of glycosylation.; KW-0912:Congenital muscular dystrophy.; KW-1215:Dystroglycanopathy.; "},{"identifier":"Congenital disorder of glycosylation 1W, autosomal dominant.","acronym":"CDG1WAD.","accession":"DI-06319","synonyms":"Congenital disorder of glycosylation, type Iw, autosomal dominant.; ","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. CDG1WAD patients show variable skeletal anomalies, short stature, macrocephaly, and dysmorphic features. Some have impaired intellectual development. Additional features include increased muscle tone and muscle cramps. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Congenital disorder of glycosylation 1W, autosomal recessive.","acronym":"CDG1WAR.","accession":"DI-04006","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. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Congenital disorder of glycosylation 1X.","acronym":"CDG1X.","accession":"DI-04007","synonyms":"CDGIx.; CDG Ix.; CDG-Ix.; Congenital disorder of glycosylation type Ix.; ","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 1Y.","acronym":"CDG1Y.","accession":"DI-04259","synonyms":"CDGIy.; CDG Iy.; CDG-Iy.; Congenital disorder of glycosylation type Iy.; ","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 2A.","acronym":"CDG2A.","accession":"DI-00347","synonyms":"Carbohydrate-deficient glycoprotein syndrome type II.; CDGIIa.; CDG IIa.; CDG-IIa.; CDGS type II.; Congenital disorder of glycosylation type IIa.; ","cross_references":"MeSH; D018981.","definition":"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 2AA.","acronym":"CDG2AA.","accession":"DI-06728","synonyms":"Congenital disorder of glycosylation, type IIaa.; ","cross_references":"MeSH; D018981.","definition":"A form of congenital disorder of glycosylation, a genetically heterogeneous group of multisystem disorders 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. CDG2AA is an autosomal recessive, early fatal form characterized by severe liver disease, skeletal abnormalities, and protein glycosylation defects. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "},{"identifier":"Congenital disorder of glycosylation 2BB.","acronym":"CDG2BB.","accession":"DI-06780","synonyms":"CDGIIBB.; CDG IIbb.; Congenital disorder of glycosylation, type IIbb.; ","cross_references":"MeSH; D018981.","definition":"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. CDG2BB is an autosomal recessive form characterized by global developmental delay, severe intellectual disability, microcephaly, epilepsy, facial dysmorphism, and variable neurological findings. ","keywords":"KW-0900:Congenital disorder of glycosylation.; "}]}