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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2860",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=2820",
"results": [
{
"identifier": "Hypermethioninemia due to adenosine kinase deficiency.",
"acronym": "HMAKD.",
"accession": "DI-03295",
"synonyms": "MRT8.; ",
"cross_references": "MeSH; D000592.",
"definition": "A metabolic disorder characterized by global developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine. Homocysteine levels are typically normal. ",
"keywords": null
},
{
"identifier": "Hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency.",
"acronym": "HMAHCHD.",
"accession": "DI-01774",
"synonyms": null,
"cross_references": "MeSH; D000592.",
"definition": "A metabolic disorder characterized by hypermethioninemia associated with failure to thrive, mental and motor retardation, facial dysmorphism with abnormal hair and teeth, and myocardiopathy. ",
"keywords": null
},
{
"identifier": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.",
"acronym": "HHHS.",
"accession": "DI-01776",
"synonyms": "HHH syndrome.; Ornithine translocase deficiency.; ",
"cross_references": "MeSH; D056806.",
"definition": "An autosomal recessive disorder of the urea cycle characterized by onset in early life. The acute phase of the disease is characterized by vomiting, ataxia, lethargy, confusion, and coma. Chronic clinical manifestations include hypotonia, developmental delay, progressive encephalopathy with mental regression, and spastic paraparesis with pyramidal signs. ",
"keywords": null
},
{
"identifier": "Hyperornithinemia with gyrate atrophy of choroid and retina.",
"acronym": "HOGA.",
"accession": "DI-01775",
"synonyms": "GACR.; Gyrate atrophy.; Gyrate atrophy of choroid and retina.; OAT deficiency.; OKT deficiency.; Ornithine aminotransferase deficiency.; Ornithine-delta-aminotransferase deficiency.; Ornithine keto acid aminotransferase deficiency.; ",
"cross_references": "MeSH; D015799.",
"definition": "A disorder clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence. ",
"keywords": null
},
{
"identifier": "Hyperostosis cranialis interna.",
"acronym": "HCIN.",
"accession": "DI-05257",
"synonyms": null,
"cross_references": "MeSH; D015576.",
"definition": "An autosomal dominant bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII, its first symptoms often presenting during the second decade of life. ",
"keywords": null
},
{
"identifier": "Hyperoxaluria primary 1.",
"acronym": "HP1.",
"accession": "DI-01778",
"synonyms": "Alanine-glyoxylate aminotransferase deficiency.; Glycolic aciduria.; Hepatic AGT deficiency.; Hyperoxaluria primary type I.; Oxalosis I.; Peroxisomal alanine glyoxylate aminotransferase deficiency.; PH1.; Primary hyperoxaluria type I.; Serine pyruvate aminotransferase deficiency.; ",
"cross_references": "MeSH; D006960.",
"definition": "An inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and progressive tissue accumulation of insoluble calcium oxalate. Affected individuals are at risk for nephrolithiasis, nephrocalcinosis and early onset end-stage renal disease. ",
"keywords": null
},
{
"identifier": "Hyperoxaluria primary 2.",
"acronym": "HP2.",
"accession": "DI-01779",
"synonyms": "D-glycerate dehydrogenase deficiency.; Glyceric aciduria.; Glyoxylate reductase/hydroxypyruvate reductase deficiency.; Hyperoxaluria primary type II.; L-glyceric aciduria.; Oxalosis II.; PH2.; Primary hyperoxaluria type II.; ",
"cross_references": "MeSH; D006960.",
"definition": "A disorder characterized by elevated urinary excretion of oxalate and L-glycerate, progressive tissue accumulation of insoluble calcium oxalate, nephrolithiasis, nephrocalcinosis, and end-stage renal disease. ",
"keywords": null
},
{
"identifier": "Hyperoxaluria primary 3.",
"acronym": "HP3.",
"accession": "DI-02917",
"synonyms": "Hyperoxaluria non-HP1/non-HP2.; Hyperoxaluria non-PH I/PH II form.; Hyperoxaluria primary type III.; ",
"cross_references": "MeSH; D006960.",
"definition": "A disorder phenotypically similar to hyperoxaluria type 1 and type 2. It is characterized by increase in urinary oxalate excretion and mild glycolic aciduria. Clinical manifestations include calcium oxalate urolithiasis, hematuria, pain, and/or urinary tract infection. ",
"keywords": null
},
{
"identifier": "Hyperparathyroidism 1.",
"acronym": "HRPT1.",
"accession": "DI-01589",
"synonyms": "Familial isolated hyperparathyroidism.; FIHP.; Hyperparathyroidism, familial, isolated, primary.; ",
"cross_references": "MeSH; D049950.",
"definition": "An autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid hyperplasia, adenomas, and carcinomas. ",
"keywords": null
},
{
"identifier": "Hyperparathyroidism 2 with jaw tumors.",
"acronym": "HRPT2.",
"accession": "DI-01780",
"synonyms": "Familial primary hyperparathyroidism with multiple ossifying jaw fibromas.; HPT-JT.; Hyperparathyroidism-jaw tumor syndrome.; ",
"cross_references": "MeSH; D049950.",
"definition": "An autosomal dominant neoplasia syndrome characterized by primary hyperparathyroidism, ossifying fibroma of the maxilla and/or mandible, renal tumor, and uterine tumors. It is associated with increased risk of parathyroid cancer. ",
"keywords": null
},
{
"identifier": "Hyperparathyroidism 4.",
"acronym": "HRPT4.",
"accession": "DI-04951",
"synonyms": null,
"cross_references": "MeSH; D049950.",
"definition": "A form of familial primary hyperparathyroidism, a hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone due to parathyroid hyperplasia or neoplasms. Clinical features include hypercalcemia, phosphaturia, and increased bone resorption. HRPT4 inheritance is autosomal dominant. ",
"keywords": null
},
{
"identifier": "Hyperparathyroidism, neonatal severe.",
"acronym": "NSHPT.",
"accession": "DI-02039",
"synonyms": "Neonatal severe primary hyperparathyroidism.; NHPT.; NSPH.; ",
"cross_references": "MeSH; D049950.",
"definition": "A disorder characterized by severe hypercalcemia, bone demineralization, and failure to thrive usually manifesting in the first 6 months of life. If untreated, NSHPT can be a devastating neurodevelopmental disorder, which in some cases is lethal without parathyroidectomy. ",
"keywords": null
},
{
"identifier": "Hyperparathyroidism, transient neonatal.",
"acronym": "HRPTTN.",
"accession": "DI-05388",
"synonyms": null,
"cross_references": "MeSH; D006961.",
"definition": "An autosomal recessive disease characterized by impaired transplacental maternal-fetal transport of calcium, high serum PTH levels and signs of metabolic bone disease in the neonatal period. Skeletal anomalies include generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones. Affected individuals experience postnatal respiratory and feeding difficulties. The condition improves within a short time after birth once calcium is provided orally. ",
"keywords": null
},
{
"identifier": "Hyperphenylalaninemia.",
"acronym": "HPA.",
"accession": "DI-01781",
"synonyms": null,
"cross_references": "MedGen; C2678416.",
"definition": "Mildest form of phenylalanine hydroxylase deficiency. ",
"keywords": null
},
{
"identifier": "Hyperphenylalaninemia, BH4-deficient, A.",
"acronym": "HPABH4A.",
"accession": "DI-01277",
"synonyms": "6-pyruvoyl-tetrahydropterin synthase deficiency.; Hyperphenylalaninemia tetrahydrobiopterin-deficient due to PTS deficiency.; PTPSD.; PTSD.; PTS deficiency.; ",
"cross_references": "MeSH; D010661.",
"definition": "An autosomal recessive disorder characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits. Neurological symptoms are unresponsive to the classic phenylalanine-low diet. ",
"keywords": null
},
{
"identifier": "Hyperphenylalaninemia, BH4-deficient, B.",
"acronym": "HPABH4B.",
"accession": "DI-00538",
"synonyms": "Atypical severe phenylketonuria due to GTP cyclohydrolase I deficiency.; GCH1 deficiency.; Guanosine triphosphate cyclohydrolase I deficiency.; Hyperphenylalaninemia with neopterin deficiency.; ",
"cross_references": "MeSH; D010661.",
"definition": "A disease characterized by malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency, and defective neurotransmission due to depletion of the neurotransmitters dopamine and serotonin. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Some patients may present a phenotype of intermediate severity between severe hyperphenylalaninemia and mild dystonia. In this intermediate phenotype, there is marked motor delay, but no intellectual disability and only minimal, if any, hyperphenylalaninemia. ",
"keywords": null
},
{
"identifier": "Hyperphenylalaninemia, BH4-deficient, C.",
"acronym": "HPABH4C.",
"accession": "DI-01278",
"synonyms": "DHPR deficiency.; Dihydropteridine reductase deficiency.; Hyperphenylalaninemia tetrahydrobiopterin-deficient due to DHPR deficiency.; QDPR deficiency.; Quinoid dihydropteridine reductase deficiency.; ",
"cross_references": "MeSH; D010661.",
"definition": "Rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly. These signs are attributable to depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and tyrosine hydroxylases that use BH-4 as cofactor. Patients do not respond to phenylalanine-restricted diet. HPABH4C is lethal if untreated. ",
"keywords": null
},
{
"identifier": "Hyperphenylalaninemia, BH4-deficient, D.",
"acronym": "HPABH4D.",
"accession": "DI-01279",
"synonyms": "CADH deficiency.; Hyperphenylalaninemia tetrahydrobiopterin-deficient due to PHS deficiency.; Hyperphenylalaninemia tetrahydrobiopterin-deficient due to pterin-4-alpha-carbinolamine dehydratase deficiency.; Hyperphenylalaninemia with primapterinuria.; PCBD deficiency.; PHS deficiency.; Pterin-4-alpha-carbinolamine dehydratase deficiency.; ",
"cross_references": "MeSH; D010661.",
"definition": "An autosomal recessive disease characterized by primapterinuria, a variant form of hyperphenylalaninemia defined by increased excretion of 7-substituted pterins in the urine. Patients with primapterinuria show an increased ratio of neopterin to biopterin in the urine, excretion of subnormal levels of biopterins, and normal levels of biogenic amines in cerebrospinal fluid. Neurologic signs are mild, present in the neonatal period only, and include hypotonia, delayed motor development and tremor. ",
"keywords": null
},
{
"identifier": "Hyperphenylalaninemia, mild, non-BH4-deficient.",
"acronym": "HPANBH4.",
"accession": "DI-04966",
"synonyms": null,
"cross_references": "MeSH; D000592.",
"definition": "An autosomal recessive disorder characterized by increased serum phenylalanine, normal BH4 metabolism, and highly variable neurologic defects, including movement abnormalities and intellectual disability. ",
"keywords": null
},
{
"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.; "
}
]
}