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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=940&ordering=synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=900&ordering=synonyms",
"results": [
{
"identifier": "Congenital disorder of glycosylation 2G.",
"acronym": "CDG2G.",
"accession": "DI-00351",
"synonyms": "CDG-II caused by Cog1 deficiency.; CDGIIg.; CDG IIg.; CDG-IIg.; Congenital disorder of glycosylation type IIg.; ",
"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. Clinical features of CDG2G include failure to thrive, generalized hypotonia, growth retardation and mild psychomotor retardation. CDG2G is biochemically characterized by a defect in O-glycosylation as well as N-glycosylation. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 2C.",
"acronym": "CDG2C.",
"accession": "DI-00348",
"synonyms": "CDGIIc.; CDG IIc.; CDG-IIc.; Congenital disorder of glycosylation type IIc.; LAD2.; Leukocyte adhesion deficiency type II.; ",
"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. The clinical features of CDG2C include intellectual disability, short stature, facial stigmata, and recurrent bacterial peripheral infections with persistently elevated peripheral leukocytes. Biochemically, CDG2C is characterized by a lack of fucosylated glycoconjugates, including selectin ligands. ",
"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 2D.",
"acronym": "CDG2D.",
"accession": "DI-00349",
"synonyms": "CDGIId.; CDG IId.; CDG-IId.; Congenital disorder of glycosylation type IId.; ",
"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 2E.",
"acronym": "CDG2E.",
"accession": "DI-00350",
"synonyms": "CDGIIe.; CDG IIe.; CDG-IIe.; Congenital disorder of glycosylation type IIe.; ",
"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 2F.",
"acronym": "CDG2F.",
"accession": "DI-01398",
"synonyms": "CDGIIf.; CDG IIf.; CDG-IIf.; Congenital disorder of glycosylation type IIf.; ",
"cross_references": "MeSH; D018981.",
"definition": "CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of 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 2H.",
"acronym": "CDG2H.",
"accession": "DI-01399",
"synonyms": "CDGIIh.; CDG IIh.; CDG-IIh.; Congenital disorder of glycosylation type IIh.; ",
"cross_references": "MeSH; D018981.",
"definition": "CDGs are a family of severe inherited diseases caused by a defect in protein N-glycosylation. They are characterized by under-glycosylated serum proteins. These multisystem disorders present with a wide variety of clinical features, such as disorders of 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 2I.",
"acronym": "CDG2I.",
"accession": "DI-02912",
"synonyms": "CDGIIi.; CDG IIi.; CDG-IIi.; Congenital disorder of glycosylation type IIi.; ",
"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. Congenital disorder of glycosylation type 2I is characterized by mild neurological impairments. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 2J.",
"acronym": "CDG2J.",
"accession": "DI-02772",
"synonyms": "CDGIIj.; CDG IIj.; CDG-IIj.; Congenital disorder of glycosylation type IIj.; ",
"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 2K.",
"acronym": "CDG2K.",
"accession": "DI-03483",
"synonyms": "CDGIIk.; CDG IIk.; CDG-IIk.; Congenital disorder of glycosylation type IIk.; ",
"cross_references": "MeSH; D018981.",
"definition": "An autosomal recessive disorder with a variable phenotype. Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under- glycosylated serum glycoproteins and a wide variety of clinical features. 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 2L.",
"acronym": "CDG2L.",
"accession": "DI-03458",
"synonyms": "CDGIIl.; CDG IIl.; CDG-IIl.; Congenital disorder of glycosylation type IIl.; ",
"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. Clinical features of CDG2L include neonatal intractable focal seizures, vomiting, loss of consciousness, intracranial bleeding due to vitamin K deficiency, and death in infancy. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 2M.",
"acronym": "CDG2M.",
"accession": "DI-03722",
"synonyms": "CDGIIm.; CDG IIm.; CDG-IIm.; Congenital disorder of glycosylation type IIm.; Congenital disorder of glycosylation X-linked.; DEE22.; Developmental and epileptic encephalopathy 22.; EIEE22.; Epileptic encephalopathy, early infantile, 22.; ",
"cross_references": "MeSH; D018981.",
"definition": "An X-linked dominant, severe neurologic disorder characterized by developmental delay, hypotonia, ocular anomalies, and brain malformations. Othere more variable clinical features included seizures, hypsarrhythmia, poor feeding, microcephaly, recurrent infections, dysmorphic features, shortened limbs, and coagulation defects. Congenital disorders of glycosylation are caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins and a wide variety of clinical features. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. ",
"keywords": "KW-0887:Epilepsy.; KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 2N.",
"acronym": "CDG2N.",
"accession": "DI-04605",
"synonyms": "CDGIIn.; CDG IIn.; CDG-IIn.; Congenital disorder of glycosylation, type IIn.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, 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. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 2O.",
"acronym": "CDG2O.",
"accession": "DI-04626",
"synonyms": "CDGIIo.; CDG IIo.; CDG-IIo.; Congenital disorder of glycosylation, type IIo.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, 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. CDG2O is characterized by hepatosplenomegaly, liver failure, hypotonia, and psychomotor disability. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 2P.",
"acronym": "CDG2P.",
"accession": "DI-04627",
"synonyms": "CDGIIp.; CDG IIp.; CDG-IIp.; Congenital disorder of glycosylation, type IIp.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, 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. CDG2P is characterized by mild metabolic dysfunction, primarily affecting the liver. Psychomotor development is normal. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 2Q.",
"acronym": "CDG2Q.",
"accession": "DI-04971",
"synonyms": "CDGIIq.; CDG IIq.; CDG-IIq.; Congenital disorder of glycosylation, type IIq.; ",
"cross_references": "MeSH; D018981.",
"definition": "A form of congenital disorder of glycosylation, a genetically heterogeneous group of autosomal recessive, 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. The transmission pattern of CDG2Q is consistent with autosomal recessive inheritance. ",
"keywords": "KW-0900:Congenital disorder of glycosylation.; "
},
{
"identifier": "Congenital disorder of glycosylation 2T.",
"acronym": "CDG2T.",
"accession": "DI-05843",
"synonyms": "CDGIIt.; CDG IIt.; Congenital disorder of glycosylation, type IIt.; ",
"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. CDG2T is an autosomal recessive form characterized by global developmental delay, intellectual disability with language deficit, autistic features, behavioral abnormalities, epilepsy, chronic insomnia, white matter changes on brain imaging, dysmorphic features, decreased stature, and decreased high density lipoprotein cholesterol levels. ",
"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.; "
}
]
}