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": "Zimmermann-Laband syndrome 3.",
            "acronym": "ZLS3.",
            "accession": "DI-05702",
            "synonyms": null,
            "cross_references": "MeSH; D000015.",
            "definition": "A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS3 inheritance is autosomal dominant. ",
            "keywords": null
        },
        {
            "identifier": "Neurooculocardiogenitourinary syndrome.",
            "acronym": "NOCGUS.",
            "accession": "DI-05698",
            "synonyms": null,
            "cross_references": "MeSH; D000015.",
            "definition": "An autosomal dominant multisystem disorder characterized by significant neurological impairment with structural brain defects and seizures, poor feeding, poor postnatal growth, ocular anomalies, dysmorphic facial features, and variable skeletal, cardiac and genitourinary defects. Death in infancy may occur. ",
            "keywords": null
        },
        {
            "identifier": "Neuroocular syndrome 1.",
            "acronym": "NOC1.",
            "accession": "DI-06229",
            "synonyms": null,
            "cross_references": "MeSH; D065886.",
            "definition": "An autosomal dominant form of neuroocular syndrome, a group of disorders characterized by developmental delay, impaired intellectual development and ocular anomalies as primary findings. Variable eye abnormalities include anophthalmia, microphthalmia, and coloboma. Other common features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly. ",
            "keywords": "KW-0991:Intellectual disability.; "
        }
    ]
}