{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2460","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2420","results":[{"identifier":"Fundus flavimaculatus.","acronym":"FFM.","accession":"DI-01640","synonyms":null,"cross_references":"MedGen; C1858080.","definition":"Autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course. ","keywords":null},{"identifier":"GABA-transaminase deficiency.","acronym":"GABATD.","accession":"DI-01641","synonyms":null,"cross_references":"MeSH; D000592.","definition":"An enzymatic deficiency resulting in psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. GABATD inheritance is autosomal recessive. ","keywords":null},{"identifier":"Gabriele-de Vries syndrome.","acronym":"GADEVS.","accession":"DI-05032","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability. Most patients have behavioral and feeding problems, movement abnormalities, mild distal skeletal anomalies, and dysmorphic facial features. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Galactosemia 1.","acronym":"GALAC1.","accession":"DI-01642","synonyms":"Galactose-1-phosphate uridylyltransferase deficiency.; Galactosemia, classic.; Galactosemia, Duarte variant.; Galactosemia I.; GALT deficiency.; ","cross_references":"MeSH; D005693.","definition":"A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC1 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Galactosemia 2.","acronym":"GALAC2.","accession":"DI-01643","synonyms":"Galactokinase deficiency.; Galactokinase deficiency with cataracts.; Galactosemia II.; GALK deficiency.; ","cross_references":"MeSH; D005693.","definition":"A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC2 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Galactosemia 3.","acronym":"GALAC3.","accession":"DI-01534","synonyms":"Galactose epimerase deficiency.; Galactosemia III.; GALE deficiency.; UDP-galactose-4-epimerase deficiency.; ","cross_references":"MeSH; D005693.","definition":"A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC3 is an autosomal recessive form caused by galactose epimerase deficiency. It can manifest as benign, peripheral form with mild symptoms and enzymatic deficiency in circulating blood cells only. A second form, known as generalized epimerase deficiency, is characterized by undetectable levels of enzyme activity in all tissues and severe clinical features, including restricted growth and intellectual disability. ","keywords":null},{"identifier":"Galactosemia 4.","acronym":"GALAC4.","accession":"DI-05839","synonyms":"Galactosemia IV.; Galactose mutarotase deficiency.; ","cross_references":"MeSH; D005693.","definition":"A form of galactosemia, an inborn error of galactose metabolism typically manifesting in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis and cataract. GALAC4 inheritance is autosomal recessive. ","keywords":null},{"identifier":"Galactosialidosis.","acronym":"GSL.","accession":"DI-01644","synonyms":"Cathepsin A deficiency.; Goldberg syndrome.; Lysosomal protective protein deficiency.; Neuraminidase deficiency with beta-galactosidase deficiency.; PPCA deficiency.; Protective protein cathepsin A deficiency.; ","cross_references":"MeSH; D016464.","definition":"A lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, secondary to a defect in cathepsin A. All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death. The late infantile type is characterized by hepatosplenomegaly, growth retardation, cardiac involvement, and a normal or mildly affected mental state. The juvenile/adult form is characterized by myoclonus, ataxia, angiokeratoma, intellectual disability, neurologic deterioration, absence of visceromegaly, and long survival. ","keywords":null},{"identifier":"Gallbladder disease 1.","acronym":"GBD1.","accession":"DI-01341","synonyms":"Cholecystitis.; Cholelithiasis.; Gallstones.; ","cross_references":"MeSH; D042882.","definition":"One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes. ","keywords":null},{"identifier":"Gallbladder disease 4.","acronym":"GBD4.","accession":"DI-02886","synonyms":null,"cross_references":"MeSH; D005705.","definition":"One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes. ","keywords":null},{"identifier":"Galloway-Mowat syndrome 1.","acronym":"GAMOS1.","accession":"DI-04306","synonyms":"CAMOS.; Galloway-Mowat syndrome.; Galloway syndrome.; Microcephaly, hiatal hernia, and nephrotic syndrome.; Nephrosis-microcephaly syndrome.; Nephrosis-neuronal dysmigration syndrome.; SCAR5.; Spinocerebellar ataxia, autosomal recessive, 5.; ","cross_references":"MeSH; D009422.","definition":"A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Patients may die in early childhood. GAMOS1 inheritance is autosomal recessive. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Galloway-Mowat syndrome 10.","acronym":"GAMOS10.","accession":"DI-06184","synonyms":null,"cross_references":"MeSH; D009422.","definition":"A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS10 is an autosomal recessive form with fatal outcome. Patients manifest congenital hypothyroidism in addition to neurologic, renal and dysmorphic features. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Galloway-Mowat syndrome 2, X-linked.","acronym":"GAMOS2.","accession":"DI-05105","synonyms":null,"cross_references":"MeSH; D009422.","definition":"A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Galloway-Mowat syndrome 3.","acronym":"GAMOS3.","accession":"DI-05106","synonyms":null,"cross_references":"MeSH; D009422.","definition":"A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Galloway-Mowat syndrome 4.","acronym":"GAMOS4.","accession":"DI-05107","synonyms":null,"cross_references":"MeSH; D009422.","definition":"A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Galloway-Mowat syndrome 5.","acronym":"GAMOS5.","accession":"DI-05108","synonyms":null,"cross_references":"MeSH; D009422.","definition":"A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Galloway-Mowat syndrome 6.","acronym":"GAMOS6.","accession":"DI-05498","synonyms":null,"cross_references":"MeSH; D009422.","definition":"A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS6 is an autosomal recessive form with onset in infancy or early childhood. Affected individuals manifest microcephaly, global developmental delay, variable degrees of intellectual disability, and growth deficiency. Renal impairment may be age-dependent or may not be present. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Galloway-Mowat syndrome 7.","acronym":"GAMOS7.","accession":"DI-05499","synonyms":null,"cross_references":"MeSH; D009422.","definition":"A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS7 inheritance is autosomal recessive. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Galloway-Mowat syndrome 8.","acronym":"GAMOS8.","accession":"DI-05500","synonyms":null,"cross_references":"MeSH; D009422.","definition":"A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS8 inheritance is autosomal recessive. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "},{"identifier":"Galloway-Mowat syndrome 9.","acronym":"GAMOS9.","accession":"DI-06183","synonyms":null,"cross_references":"MeSH; D009422.","definition":"A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS9 inheritance is autosomal recessive. ","keywords":"KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "}]}