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=-synonyms",
    "results": [
        {
            "identifier": "Rickets vitamin D-dependent 1A.",
            "acronym": "VDDR1A.",
            "accession": "DI-02414",
            "synonyms": "1-alpha 25-hydroxyvitamin D3 deficiency selective.; 1-alpha-hydroxylase deficiency.; 25-hydroxycholecalciferol-1-hydroxylase deficiency.; PDDR.; PDDR1A.; PDDR IA.; Pseudovitamin D deficiency rickets.; Pseudovitamin D-deficiency rickets type IA.; VDD1.; Vitamin D dependency type 1.; ",
            "cross_references": "MeSH; D012279.",
            "definition": "A disorder caused by a selective deficiency of the active form of vitamin D (1,25-dihydroxyvitamin D3) and resulting in defective bone mineralization and clinical features of rickets. ",
            "keywords": null
        },
        {
            "identifier": "HSD10 mitochondrial disease.",
            "acronym": "HSD10MD.",
            "accession": "DI-00001",
            "synonyms": "17-beta-hydroxysteroid dehydrogenase X deficiency.; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.; 3-hydroxyacyl-CoA dehydrogenase II deficiency.; 3-hydroxyacyl-CoA dehydrogenase type 2 deficiency.; 3-hydroxyacyl-CoA dehydrogenase type-2 deficiency.; 3-hydroxyacyl-CoA dehydrogenase type II deficiency.; CAMR.; HSD17B10 deficiency.; MHBD deficiency.; MRXS10.; ",
            "cross_references": "MeSH; D020739.",
            "definition": "An X-linked multisystemic disorder with highly variable severity. Age at onset ranges from the neonatal period to early childhood. Features include progressive neurodegeneration, psychomotor retardation, loss of mental and motor skills, seizures, cardiomyopathy, and visual and hearing impairment. Some patients manifest lactic acidosis and metabolic acidosis. ",
            "keywords": "KW-0523:Neurodegeneration.; "
        },
        {
            "identifier": "Male pseudohermaphrodism with gynecomastia.",
            "acronym": "MPH.",
            "accession": "DI-01928",
            "synonyms": "17-beta hydroxysteroid dehydrogenase III deficiency.; 17-ketosteroid reductase deficiency of testis.; 17-KSR deficiency.; Neutral 17-beta-hydroxysteroid oxidoreductase deficiency.; Pseudohermaphroditism, male, with gynecomastia.; ",
            "cross_references": "MeSH; D058490.",
            "definition": "An autosomal recessive disorder that manifests, in males, as undermasculinization characterized by hypoplastic-to-normal internal genitalia (epididymis, vas deferens, seminal vesicles, and ejaculatory ducts) but female external genitalia and the absence of a prostate. This phenotype is caused by inadequate testicular synthesis of testosterone, which, in turn, results in insufficient formation of dihydrotestosterone in the anlage of the external genitalia and prostate during fetal development. At the expected time of puberty, there is a marked increase in plasma leuteinizing hormone and, consequently, in testicular secretion of androstenedione. Hence, a diagnostic hallmark of this disorder is a decreased plasma testosterone-to-androstenedione ratio. Significant amounts of the circulating androstenedione are, however, converted to testosterone, in peripheral tissues, thereby causing virilization. ",
            "keywords": null
        }
    ]
}