Human Disease List

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{
    "count": 6723,
    "next": null,
    "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6700&ordering=-identifier",
    "results": [
        {
            "identifier": "3-hydroxy-3-methylglutaryl-CoA lyase deficiency.",
            "acronym": "HMGCLD.",
            "accession": "DI-00003",
            "synonyms": "HL deficiency.; HMGCL deficiency.; HMG-CoA lyase deficiency.; Hydroxymethylglutaricaciduria.; Hydroxymethylglutaric aciduria.; ",
            "cross_references": "MeSH; D000592.",
            "definition": "An autosomal recessive disease affecting ketogenesis and L-leucine catabolism. The disease usually appears in the first year of life after a fasting period and its clinical acute symptoms include vomiting, seizures, metabolic acidosis, hypoketotic hypoglycemia and lethargy. These symptoms sometimes progress to coma, with fatal outcome in some cases. ",
            "keywords": null
        },
        {
            "identifier": "3-alpha-hydroxyacyl-CoA dehydrogenase deficiency.",
            "acronym": "HADH deficiency.",
            "accession": "DI-00002",
            "synonyms": "HAD deficiency.; Hydroxyacyl-coenzyme A dehydrogenase deficiency.; SCHAD deficiency.; ",
            "cross_references": "MeSH; D008659.",
            "definition": "An autosomal recessive, metabolic disorder with various clinical presentations including hypoglycemia, hepatoencephalopathy, myopathy or cardiomyopathy, and in some cases sudden death. ",
            "keywords": null
        },
        {
            "identifier": "2,4-dienoyl-CoA reductase deficiency.",
            "acronym": "DECRD.",
            "accession": "DI-04240",
            "synonyms": null,
            "cross_references": "MeSH; D028361.",
            "definition": "A rare, autosomal recessive, inborn error of polyunsaturated fatty acids and lysine metabolism, resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic abnormalities beginning in early infancy. Laboratory studies show increased C10:2 carnitine levels and hyperlysinemia. ",
            "keywords": null
        }
    ]
}