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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=4660&ordering=-synonyms",
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"results": [
{
"identifier": "Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities.",
"acronym": "NEDDSBA.",
"accession": "DI-04086",
"synonyms": "Glycosylphosphatidylinositol biosynthesis defect 9.; GPIBD9.; MRT42.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by severely delayed global development, with hypotonia, impaired intellectual development, and poor or absent speech. Most patients have spasticity with limb hypertonia and brisk tendon reflexes. Additional features include non- specific dysmorphic facial features, structural brain abnormalities, and cortical visual impairment. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hyperphosphatasia with impaired intellectual development syndrome 3.",
"acronym": "HPMRS3.",
"accession": "DI-03720",
"synonyms": "Glycosylphosphatidylinositol biosynthesis defect 8.; GPIBD8.; MRT17.; MRT21.; ",
"cross_references": "MeSH; D010760.",
"definition": "An autosomal recessive disorder usually characterized by intellectual disability, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Multiple congenital anomalies-hypotonia-seizures syndrome 3.",
"acronym": "MCAHS3.",
"accession": "DI-03879",
"synonyms": "Glycosylphosphatidylinositol biosynthesis defect 7.; GPIBD7.; M syndrome.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive syndrome characterized by distinct facial features, intellectual disability, hypotonia and seizures, in combination with abnormal skeletal, endocrine, and ophthalmologic findings including impaired vision, as well as abnormal motility of the eyes. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Hyperphosphatasia with impaired intellectual development syndrome 2.",
"acronym": "HPMRS2.",
"accession": "DI-03510",
"synonyms": "Glycosylphosphatidylinositol biosynthesis defect 6.; GPIBD6.; ",
"cross_references": "MeSH; D010760.",
"definition": "An autosomal recessive form of intellectual disability characterized by facial dysmorphism, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Multiple congenital anomalies-hypotonia-seizures syndrome 1.",
"acronym": "MCAHS1.",
"accession": "DI-03203",
"synonyms": "Glycosylphosphatidylinositol biosynthesis defect 3.; GPIBD3.; ",
"cross_references": "MeSH; D000015.",
"definition": "An autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age. ",
"keywords": "KW-0887:Epilepsy.; "
},
{
"identifier": "Hyperphosphatasia with impaired intellectual development syndrome 1.",
"acronym": "HPMRS1.",
"accession": "DI-02921",
"synonyms": "Glycosylphosphatidylinositol biosynthesis defect 2.; GPIBD2.; Mabry syndrome.; ",
"cross_references": "MeSH; D010760.",
"definition": "A severe syndrome characterized by elevated serum alkaline phosphatase, severe intellectual disability, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome.",
"acronym": "OORS.",
"accession": "DI-06139",
"synonyms": "Glycosylphosphatidylinositol biosynthesis defect 24.; GPIBD24.; OORS syndrome.; ",
"cross_references": "MeSH; D012640.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, seizures or tonic posturing, dysmorphic facial features, and hypoplastic terminal phalanges and nails. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures.",
"acronym": "NEDHCAS.",
"accession": "DI-05837",
"synonyms": "Glycosylphosphatidylinositol biosynthesis defect 22.; GPIBD22.; ",
"cross_references": "MeSH; D065886.",
"definition": "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, intellectual disability, hypotonia, cerebellar ataxia, cerebellar atrophy, delayed motor skills, poor or absent speech, and epilepsy in most patients. Some patients manifest facial dysmorphism. Disease onset is in infancy. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis.",
"acronym": "NEDBSS.",
"accession": "DI-05663",
"synonyms": "Glycosylphosphatidylinositol biosynthesis defect 21.; GPIBD21.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by global developmental delay, severe-to-profound intellectual disability, muscular hypotonia, seizures, brain anomalies, including thin corpus callosum and cerebellar atrophy, scoliosis, and mild facial dysmorphism. ",
"keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; "
},
{
"identifier": "Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy.",
"acronym": "NEDHSCA.",
"accession": "DI-04693",
"synonyms": "Glycosylphosphatidylinositol biosynthesis defect 13.; GPIBD13.; Intellectual developmental disorder, autosomal recessive 53.; MRT53.; ",
"cross_references": "MeSH; D008607.",
"definition": "An autosomal recessive disorder characterized by delayed psychomotor development, hypotonia, and early-onset seizures in most patients. Additional variable features are cerebellar atrophy, ataxia, and non- specific dysmorphic features. Some patients may have the Emm-null blood group phenotype. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Hyperphosphatasia with impaired intellectual development syndrome 4.",
"acronym": "HPMRS4.",
"accession": "DI-04049",
"synonyms": "Glycosylphosphatidylinositol biosynthesis defect 10.; GPIBD10.; ",
"cross_references": "MeSH; D010760.",
"definition": "An autosomal recessive neurologic disorder characterized by profound developmental delay, severe intellectual disability, no speech, psychomotor delay, postnatal microcephaly, and elevated serum alkaline phosphatase. ",
"keywords": "KW-0991:Intellectual disability.; "
},
{
"identifier": "Bleeding disorder, platelet-type, 11.",
"acronym": "BDPLT11.",
"accession": "DI-03257",
"synonyms": "Glycoprotein VI deficiency.; GP VI deficiency.; ",
"cross_references": "MeSH; D006470.",
"definition": "A mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen. ",
"keywords": null
},
{
"identifier": "Glycogen storage disease 11.",
"acronym": "GSD11.",
"accession": "DI-02478",
"synonyms": "Glycogen storage disease XI.; GSD XI.; Lactate dehydrogenase A deficiency.; ",
"cross_references": "MeSH; D006008.",
"definition": "A metabolic disorder that results in exertional myoglobinuria, pain, cramps and easy fatigue. ",
"keywords": "KW-0322:Glycogen storage disease.; "
},
{
"identifier": "Glycogen storage disease 10.",
"acronym": "GSD10.",
"accession": "DI-02572",
"synonyms": "Glycogen storage disease X.; GSD X.; Muscle phosphoglycerate mutase deficiency.; Myopathy due to phosphoglycerate mutase deficiency.; PGAMM deficiency.; ",
"cross_references": "MeSH; D006008.",
"definition": "A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps, exercise intolerance. ",
"keywords": "KW-0322:Glycogen storage disease.; "
},
{
"identifier": "Glycogen storage disease 7.",
"acronym": "GSD7.",
"accession": "DI-00527",
"synonyms": "Glycogen storage disease VII.; GSD VII.; GSD-VII.; Muscle phosphofructokinase deficiency.; PFKM deficiency.; Tarui disease.; ",
"cross_references": "MeSH; D006014.",
"definition": "A metabolic disorder characterized by exercise intolerance with associated nausea and vomiting, muscle cramping, exertional myopathy and compensated hemolysis. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise. ",
"keywords": "KW-0322:Glycogen storage disease.; "
},
{
"identifier": "Glycogen storage disease 6.",
"acronym": "GSD6.",
"accession": "DI-00526",
"synonyms": "Glycogen storage disease VI.; Glycogen storage disease VIb.; GSD-VI.; Hers disease.; Liver phosphorylase deficiency.; ",
"cross_references": "MeSH; D006013.",
"definition": "A metabolic disorder characterized by mild to moderate hypoglycemia, mild ketosis, growth retardation, and prominent hepatomegaly. Heart and skeletal muscle are not affected. ",
"keywords": "KW-0322:Glycogen storage disease.; "
},
{
"identifier": "Glycogen storage disease 5.",
"acronym": "GSD5.",
"accession": "DI-00525",
"synonyms": "Glycogen storage disease V.; GSD V.; GSD-V.; McArdle disease.; Myophosphorylase deficiency.; ",
"cross_references": "MeSH; D006012.",
"definition": "A metabolic disorder resulting in myopathy characterized by exercise intolerance, cramps, muscle weakness and recurrent myoglobinuria. ",
"keywords": "KW-0322:Glycogen storage disease.; "
},
{
"identifier": "Glycogen storage disease 9D.",
"acronym": "GSD9D.",
"accession": "DI-00531",
"synonyms": "Glycogen storage disease IXd.; GSD IXd.; Muscle phosphorylase kinase deficiency.; X-linked muscle glycogenosis.; ",
"cross_references": "MeSH; D006008.",
"definition": "A metabolic disorder characterized by slowly progressive, predominantly distal muscle weakness and atrophy. Clinical features include exercise intolerance with early fatigability, pain, cramps and occasionally myoglobinuria. ",
"keywords": "KW-0322:Glycogen storage disease.; "
},
{
"identifier": "Glycogen storage disease 9B.",
"acronym": "GSD9B.",
"accession": "DI-00529",
"synonyms": "Glycogen storage disease IXb.; GSD-IXb.; Phosphorylase kinase deficiency of liver and muscle.; ",
"cross_references": "MeSH; D006008.",
"definition": "A metabolic disorder characterized by hepatomegaly, only slightly elevated transaminases and plasma lipids, clinical improvement with increasing age, and remarkably no clinical muscle involvement. Biochemical observations suggest that this mild phenotype is caused by an incomplete holoenzyme that lacks the beta subunit, but that may possess residual activity. ",
"keywords": "KW-0322:Glycogen storage disease.; "
},
{
"identifier": "Glycogen storage disease 9A.",
"acronym": "GSD9A.",
"accession": "DI-00528",
"synonyms": "Glycogen storage disease IXa.; Glycogen storage disease IXa1.; Glycogen storage disease IXa2.; Glycogen storage disease VIa.; Glycogen storage disease VIII.; GSD9A1.; GSD9A2.; GSD-IXa.; GSD-VIa.; GSD-VIII.; Hepatic phosphorylase kinase deficiency.; XLG.; X-linked liver glycogenosis.; X-linked liver glycogenosis type I.; X-linked liver glycogenosis type II.; ",
"cross_references": "MeSH; D006008.",
"definition": "A metabolic disorder resulting in a mild liver glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis. Two subtypes are known: type 1 or classic type with no phosphorylase kinase activity in liver or erythrocytes, and type 2 or variant type with no phosphorylase kinase activity in liver, but normal activity in erythrocytes. Unlike other glycogenosis diseases, glycogen storage disease type 9A is generally a benign condition. Patients improve with age and are often asymptomatic as adults. Accurate diagnosis is therefore also of prognostic interest. ",
"keywords": "KW-0322:Glycogen storage disease.; "
}
]
}