Human Disease List
GET /api/human_diseases/?format=api&offset=6700&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6720&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6680&ordering=-identifier", "results": [ { "identifier": "46,XX sex reversal 1.", "acronym": "SRXX1.", "accession": "DI-02395", "synonyms": "46,XX gonadal dysgenesis complete SRY-positive.; 46,XX sex reversal SRY-positive.; 46,XX testicular disorder of sex development.; 46,XX true hermaphroditism SRY-positive.; Ovotesticular disorder of sex development.; Ovotesticular DSD.; XX male SRY-positive.; ", "cross_references": "MeSH; D050090.", "definition": "A condition in which male gonads develop in a genetic female (female to male sex reversal). ", "keywords": null }, { "identifier": "3M syndrome 3.", "acronym": "3M3.", "accession": "DI-03220", "synonyms": "3M syndrome-3.; Three M syndrome 3.; ", "cross_references": "MeSH; D004392.", "definition": "A disorder characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "3M syndrome 2.", "acronym": "3M2.", "accession": "DI-02472", "synonyms": "3M syndrome-2.; Three M syndrome 2.; ", "cross_references": "MeSH; D004392.", "definition": "An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "3M syndrome 1.", "acronym": "3M1.", "accession": "DI-00011", "synonyms": "3M syndrome-1.; Dolichospondylic dysplasia.; Gloomy face syndrome.; Le Merrer syndrome.; Miller-McKusick-Malvaux syndrome.; Three M syndrome.; Three M syndrome 1.; Yakut short stature syndrome.; ", "cross_references": "MeSH; D004392.", "definition": "An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies. ", "keywords": "KW-0242:Dwarfism.; " }, { "identifier": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome.", "acronym": "MEGDEL.", "accession": "DI-03495", "synonyms": "3-methylglutaconic aciduria, type VI.; 3-methylglutaconic aciduria with dystonia-deafness, hepatopathy, encephalopathy, and Leigh-like syndrome.; MEGDHEL.; MGCA6.; ", "cross_references": "MeSH; D008661.", "definition": "An autosomal recessive disorder characterized by childhood onset of delayed psychomotor development or psychomotor regression, sensorineural deafness, spasticity or dystonia, and increased excretion of 3-methylglutaconic acid. Brain imaging shows cerebral and cerebellar atrophy as well as lesions in the basal ganglia reminiscent of Leigh syndrome. Laboratory studies show increased serum lactate and alanine, mitochondrial oxidative phosphorylation defects, abnormal mitochondria, abnormal phosphatidylglycerol and cardiolipin profiles in fibroblasts, and abnormal accumulation of unesterified cholesterol within cells. ", "keywords": "KW-0209:Deafness.; " }, { "identifier": "3-methylglutaconic aciduria 9.", "acronym": "MGCA9.", "accession": "DI-05109", "synonyms": "3-methylglutaconic aciduria, type IX.; ", "cross_references": "MeSH; D008661.", "definition": "An autosomal recessive disease characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria. ", "keywords": "KW-0887:Epilepsy.; KW-0991:Intellectual disability.; " }, { "identifier": "3-methylglutaconic aciduria 8.", "acronym": "MGCA8.", "accession": "DI-04904", "synonyms": "3-methylglutaconic aciduria, type VII.; ", "cross_references": "MeSH; D008661.", "definition": "An autosomal recessive inborn error of metabolism resulting in early death. Clinical features include extreme hypertonia observed at birth, alternating with hypotonia, subsequent appearance of extrapyramidal symptoms, lack of psychomotor development, microcephaly, and intractable seizures. Patients show lactic acidemia, 3- methylglutaconic aciduria, intermittent neutropenia, and progressive brain atrophy. ", "keywords": "KW-0887:Epilepsy.; " }, { "identifier": "3-methylglutaconic aciduria 7B.", "acronym": "MGCA7B.", "accession": "DI-04365", "synonyms": "3-methylglutaconic aciduria, type VII.; 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia.; 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia.; MEGCANN.; MGCA7.; ", "cross_references": "MeSH; D008661.", "definition": "An autosomal recessive inborn error of metabolism with a highly variable phenotype. Primary disease symptoms are increased levels of 3-methylglutaconic acid, neurologic deterioration and neutropenia. Other common features include progressive encephalopathy, movement abnormalities, delayed psychomotor development,impaired intellectual development, cataracts, seizures, and recurrent infections. ", "keywords": "KW-0887:Epilepsy.; KW-0898:Cataract.; " }, { "identifier": "3-methylglutaconic aciduria 7A.", "acronym": "MGCA7A.", "accession": "DI-06387", "synonyms": "3-methylglutaconic aciduria, type VIIA, autosomal dominant.; 3-methylglutaconic aciduria with neurologic involvement and neutropenia, autosomal dominant.; ", "cross_references": "MeSH; D008661.", "definition": "An autosomal dominant inborn error of metabolism with a highly variable phenotype. Primary disease symptoms are increased levels of 3-methylglutaconic acid, neurologic deterioration and neutropenia. Other common features include progressive encephalopathy, movement abnormalities, delayed psychomotor development, impaired intellectual development, cataracts, seizures, and recurrent infections. ", "keywords": "KW-0887:Epilepsy.; KW-0898:Cataract.; KW-0991:Intellectual disability.; " }, { "identifier": "3-methylglutaconic aciduria 5.", "acronym": "MGCA5.", "accession": "DI-00007", "synonyms": "3-alpha-methylglutaconic aciduria type 5.; DCMA.; Dilated cardiomyopathy with ataxia.; MGA5.; MGA type V.; ", "cross_references": "MeSH; D002311.", "definition": "An autosomal recessive disorder characterized by early-onset dilated cardiomyopathy, growth failure, cerebellar ataxia causing significant motor delays, testicular dysgenesis, growth failure and significant increases in urine organic acids, particularly 3-methylglutaconic acid and 3-methylglutaric acid. ", "keywords": "KW-0122:Cardiomyopathy.; " }, { "identifier": "3-methylglutaconic aciduria 3.", "acronym": "MGCA3.", "accession": "DI-00006", "synonyms": "3-alpha-methylglutaconic aciduria type 3.; Costeff optic atrophy syndrome.; Costeff syndrome.; MGA3.; MGA type III.; Optic atrophy 3 autosomal recessive.; Optic atrophy plus syndrome.; ", "cross_references": "MeSH; D015418.", "definition": "An autosomal recessive metabolic disorder that causes a neuro- ophthalmologic syndrome consisting of early-onset bilateral optic atrophy, spasticity, extrapyramidal dysfunction and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and 3-methylglutaric acid is increased. MGCA3 can be distinguished from MGCA1 by the absence of increase of 3-hydroxyisovaleric acid levels. ", "keywords": null }, { "identifier": "3-methylglutaconic aciduria 1.", "acronym": "MGCA1.", "accession": "DI-00004", "synonyms": "3-alpha-methylglutaconic aciduria type 1.; 3-alpha-methylglutaconyl-CoA hydratase deficiency.; 3-methylglutaconyl-CoA hydratase deficiency.; 3MG-CoA hydratase deficiency.; MGA1.; MGA type I.; ", "cross_references": "MeSH; D000592.", "definition": "An inborn error of leucine metabolism. It leads to an autosomal recessive syndrome with variable clinical phenotype, ranging from delayed speech development to severe psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. MGCA1 can be distinguished from other forms of MGCA by the pattern of metabolite excretion: 3-methylglutaconic acid levels are higher than those detected in other forms, whereas methylglutaric acid levels are usually only slightly elevated and there is a high level of 3- hydroxyisovaleric acid excretion (not present in other MGCA forms). ", "keywords": null }, { "identifier": "3-methylcrotonoyl-CoA carboxylase 2 deficiency.", "acronym": "MCC2D.", "accession": "DI-00743", "synonyms": "3-methylcrotonylglycinuria type II.; MCC2 deficiency.; MCGII.; Methylcrotonylglycinuria type II.; ", "cross_references": "MeSH; D000592.", "definition": "An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3- methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. ", "keywords": null }, { "identifier": "3-methylcrotonoyl-CoA carboxylase 1 deficiency.", "acronym": "MCC1D.", "accession": "DI-00742", "synonyms": "3-methylcrotonylglycinuria type I.; MCC1 deficiency.; MCCD type 1.; MCGI.; Methylcrotonylglycinuria type I.; ", "cross_references": "MeSH; D000592.", "definition": "An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3- methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. ", "keywords": null }, { "identifier": "3MC syndrome 3.", "acronym": "3MC3.", "accession": "DI-04982", "synonyms": "Facial clefting syndrome Gypsy type.; Malpuech facial clefting syndrome.; Malpuech syndrome.; ", "cross_references": "MeSH; D005141.", "definition": "A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. ", "keywords": null }, { "identifier": "3MC syndrome 2.", "acronym": "3MC2.", "accession": "DI-03130", "synonyms": "Carnevale Krajewska Fischetto syndrome.; Carnevale syndrome.; Oculo-skeletal-abdominal syndrome.; OSA syndrome.; Ptosis of eyelids with diastasis recti and hip dysplasia.; ", "cross_references": "MeSH; D005141.", "definition": "A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. ", "keywords": null }, { "identifier": "3MC syndrome 1.", "acronym": "3MC1.", "accession": "DI-03129", "synonyms": "Craniosynostosis with lid anomalies.; Michels syndrome.; Oculopalatoskeletal syndrome.; ", "cross_references": "MeSH; D005141.", "definition": "A form of 3MC syndrome, an autosomal recessive disorder characterized by facial dysmorphism, craniosynostosis, learning disability, and genital, limb and vesicorenal anomalies. Facial features include hypertelorism, blepharophimosis, blepharoptosis and highly arched eyebrows, cleft lip and/or palate. The term 3MC syndrome includes Carnevale, Mingarelli, Malpuech, and Michels syndromes. ", "keywords": null }, { "identifier": "3-ketothiolase deficiency.", "acronym": "3KTD.", "accession": "DI-00009", "synonyms": "Alpha-methylacetoaceticaciduria.; ", "cross_references": "MeSH; D000592.", "definition": "An autosomal recessive inborn error of isoleucine catabolism characterized by intermittent ketoacidotic attacks associated with unconsciousness. Some patients die during an attack or are mentally retarded. Urinary excretion of 2-methyl-3-hydroxybutyric acid, 2- methylacetoacetic acid, triglylglycine, butanone is increased. It seems likely that the severity of this disease correlates better with the environmental or acquired factors than with the ACAT1 genotype. ", "keywords": null }, { "identifier": "3-hydroxyisobutryl-CoA hydrolase deficiency.", "acronym": "HIBCHD.", "accession": "DI-01740", "synonyms": "Beta-hydroxyisobutyryl CoA deacylase deficiency.; Deficiency of beta-hydroxyisobutyryl CoA deacylase.; HIBCH deficiency.; Methacrylic acid toxicity.; Methacrylic aciduria.; Valine metabolic defect.; ", "cross_references": "MeSH; D000592.", "definition": "An autosomal recessive inborn error of valine metabolism. It causes severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. ", "keywords": null }, { "identifier": "3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency.", "acronym": "HMGCS2D.", "accession": "DI-01751", "synonyms": "HMG-CoA synthase deficiency.; HMGCS2 deficiency.; HMGCS deficiency.; Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency.; Mitochondrial HMG-CoA synthase deficiency.; ", "cross_references": "MeSH; D028361.", "definition": "A metabolic disorder characterized by severe hypoketotic hypoglycemia, encephalopathy, and hepatomegaly. ", "keywords": null } ] }