Human Disease List

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{
    "count": 6723,
    "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5620&ordering=-identifier",
    "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5580&ordering=-identifier",
    "results": [
        {
            "identifier": "Ciliary dyskinesia, primary, 44.",
            "acronym": "CILD44.",
            "accession": "DI-05765",
            "synonyms": "Ciliary dyskinesia, primary, 44 without situs inversus.; ",
            "cross_references": "MeSH; D002925.",
            "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD44 inheritance is autosomal recessive. ",
            "keywords": "KW-0990:Primary ciliary dyskinesia.; "
        },
        {
            "identifier": "Ciliary dyskinesia, primary, 43.",
            "acronym": "CILD43.",
            "accession": "DI-05715",
            "synonyms": "Ciliary dyskinesia, primary, 43 with or without situs inversus.; ",
            "cross_references": "MeSH; D002925.",
            "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients with this disorder also develop significant obstructive hydrocephalus. Other more variable features include infertility and about a 50% chance of situs inversus or other left-right asymmetry defects. CILD43 inheritance is autosomal dominant. ",
            "keywords": "KW-0990:Primary ciliary dyskinesia.; "
        },
        {
            "identifier": "Ciliary dyskinesia, primary, 42.",
            "acronym": "CILD42.",
            "accession": "DI-05714",
            "synonyms": "Ciliary dyskinesia, primary, 42, without situs inversus.; ",
            "cross_references": "MeSH; D002925.",
            "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. CILD42 inheritance is autosomal recessive. ",
            "keywords": "KW-0990:Primary ciliary dyskinesia.; "
        },
        {
            "identifier": "Ciliary dyskinesia, primary, 41.",
            "acronym": "CILD41.",
            "accession": "DI-05575",
            "synonyms": null,
            "cross_references": "MeSH; D002925.",
            "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD41 inheritance is autosomal recessive. ",
            "keywords": "KW-0990:Primary ciliary dyskinesia.; "
        },
        {
            "identifier": "Ciliary dyskinesia, primary, 40.",
            "acronym": "CILD40.",
            "accession": "DI-05451",
            "synonyms": "Ciliary dyskinesia, primary, 40, with or without situs inversus.; ",
            "cross_references": "MeSH; D007619.",
            "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD40 inheritance is autosomal recessive. ",
            "keywords": "KW-1012:Kartagener syndrome.; "
        },
        {
            "identifier": "Ciliary dyskinesia, primary, 39.",
            "acronym": "CILD39.",
            "accession": "DI-05437",
            "synonyms": "Ciliary dyskinesia, primary, 39, with or without situs inversus.; ",
            "cross_references": "MeSH; D007619.",
            "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD39 inheritance is autosomal recessive. ",
            "keywords": "KW-1012:Kartagener syndrome.; "
        },
        {
            "identifier": "Ciliary dyskinesia, primary, 38.",
            "acronym": "CILD38.",
            "accession": "DI-05283",
            "synonyms": "Ciliary dyskinesia, primary, 38, with or without situs inversus.; ",
            "cross_references": "MeSH; D007619.",
            "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD38 inheritance is autosomal recessive. ",
            "keywords": "KW-1012:Kartagener syndrome.; "
        },
        {
            "identifier": "Ciliary dyskinesia, primary, 37.",
            "acronym": "CILD37.",
            "accession": "DI-05029",
            "synonyms": "Ciliary dyskinesia, primary, 37, with or without situs inversus.; ",
            "cross_references": "MeSH; D007619.",
            "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD37 inheritance is autosomal recessive. ",
            "keywords": "KW-1012:Kartagener syndrome.; "
        },
        {
            "identifier": "Ciliary dyskinesia, primary, 36, X-linked.",
            "acronym": "CILD36.",
            "accession": "DI-04940",
            "synonyms": "Ciliary dyskinesia, primary, 36, with or without situs inversus.; ",
            "cross_references": "MeSH; D007619.",
            "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD36 inheritance is X-linked recessive. About half of CILD36 patients have laterality defects due to ciliary dysfunction at the embryonic node. ",
            "keywords": "KW-1012:Kartagener syndrome.; "
        },
        {
            "identifier": "Ciliary dyskinesia, primary, 35.",
            "acronym": "CILD35.",
            "accession": "DI-04827",
            "synonyms": "Ciliary dyskinesia, primary, 35 with or without situs inversus.; Primary ciliary dyskinesia 35 with or without situs inversus.; ",
            "cross_references": "MeSH; D007619.",
            "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left- right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD35 inheritance is autosomal recessive. ",
            "keywords": "KW-1012:Kartagener syndrome.; "
        },
        {
            "identifier": "Ciliary dyskinesia, primary, 34.",
            "acronym": "CILD34.",
            "accession": "DI-04822",
            "synonyms": null,
            "cross_references": "MeSH; D007619.",
            "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD34 inheritance is autosomal recessive. ",
            "keywords": "KW-0990:Primary ciliary dyskinesia.; "
        },
        {
            "identifier": "Ciliary dyskinesia, primary, 33.",
            "acronym": "CILD33.",
            "accession": "DI-04621",
            "synonyms": "Ciliary dyskinesia, primary, 33, without situs inversus.; ",
            "cross_references": "MeSH; D007619.",
            "definition": "A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD33 inheritance is autosomal recessive. ",
            "keywords": "KW-0990:Primary ciliary dyskinesia.; "
        },
        {
            "identifier": "Ciliary dyskinesia, primary, 32.",
            "acronym": "CILD32.",
            "accession": "DI-04489",
            "synonyms": "Ciliary dyskinesia, primary, 32, without situs inversus.; ",
            "cross_references": "MeSH; D007619.",
            "definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. ",
            "keywords": "KW-0990:Primary ciliary dyskinesia.; "
        },
        {
            "identifier": "Ciliary dyskinesia, primary, 30.",
            "acronym": "CILD30.",
            "accession": "DI-04247",
            "synonyms": "Primary ciliary dyskinesia 30 with or without situs inversus.; ",
            "cross_references": "MeSH; D007619.",
            "definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
            "keywords": "KW-1012:Kartagener syndrome.; "
        },
        {
            "identifier": "Ciliary dyskinesia, primary, 3.",
            "acronym": "CILD3.",
            "accession": "DI-00930",
            "synonyms": "Ciliary dyskinesia, primary, 3, with or without situs inversus.; ICS3.; Immotile cilia syndrome 3.; ",
            "cross_references": "MeSH; D007619.",
            "definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
            "keywords": "KW-1012:Kartagener syndrome.; "
        },
        {
            "identifier": "Ciliary dyskinesia, primary, 29.",
            "acronym": "CILD29.",
            "accession": "DI-04144",
            "synonyms": "Primary ciliary dyskinesia without situs inversus.; ",
            "cross_references": "MeSH; D007619.",
            "definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD29 patients do not exhibit situs inversus, a congenital abnormality in which visceral organs are opposite to their normal positions (situs solitus) due to lateral transposition. ",
            "keywords": "KW-0990:Primary ciliary dyskinesia.; "
        },
        {
            "identifier": "Ciliary dyskinesia, primary, 28.",
            "acronym": "CILD28.",
            "accession": "DI-03944",
            "synonyms": "Primary ciliary dyskinesia 28 with or without situs inversus.; ",
            "cross_references": "MeSH; D007619.",
            "definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
            "keywords": "KW-1012:Kartagener syndrome.; "
        },
        {
            "identifier": "Ciliary dyskinesia, primary, 27.",
            "acronym": "CILD27.",
            "accession": "DI-03938",
            "synonyms": "Primary ciliary dyskinesia 27 with or without situs inversus.; ",
            "cross_references": "MeSH; D007619.",
            "definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
            "keywords": "KW-1012:Kartagener syndrome.; "
        },
        {
            "identifier": "Ciliary dyskinesia, primary, 26.",
            "acronym": "CILD26.",
            "accession": "DI-03936",
            "synonyms": "Primary ciliary dyskinesia 26 with or without situs inversus.; ",
            "cross_references": "MeSH; D007619.",
            "definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
            "keywords": "KW-1012:Kartagener syndrome.; "
        },
        {
            "identifier": "Ciliary dyskinesia, primary, 25.",
            "acronym": "CILD25.",
            "accession": "DI-03917",
            "synonyms": "Primary ciliary dyskinesia 25 with or without situs inversus.; ",
            "cross_references": "MeSH; D007619.",
            "definition": "A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ",
            "keywords": "KW-1012:Kartagener syndrome.; "
        }
    ]
}