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{
"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5560&ordering=-synonyms",
"previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5520&ordering=-synonyms",
"results": [
{
"identifier": "Cockayne syndrome B.",
"acronym": "CSB.",
"accession": "DI-00312",
"synonyms": "CKN2.; ",
"cross_references": "MeSH; D003057.",
"definition": "A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in intellectual disability. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer. ",
"keywords": "KW-0172:Cockayne syndrome.; "
},
{
"identifier": "Cockayne syndrome A.",
"acronym": "CSA.",
"accession": "DI-00311",
"synonyms": "CKN1.; ",
"cross_references": "MeSH; D003057.",
"definition": "A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in intellectual disability. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer. ",
"keywords": "KW-0172:Cockayne syndrome.; "
},
{
"identifier": "Cholestasis, neonatal intrahepatic, caused by citrin deficiency.",
"acronym": "NICCD.",
"accession": "DI-00799",
"synonyms": "Citrin deficiency.; Citrullinemia, type II, neonatal-onset.; Citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia.; Neonatal-onset citrullinemia type 2.; Neonatal-onset citrullinemia type II.; ",
"cross_references": "MeSH; D002780.",
"definition": "A form of citrullinemia type 2 with neonatal onset, characterized by suppression of the bile flow, hepatic fibrosis, low birth weight, growth retardation, hypoproteinemia, variable liver dysfunction. Neonatal intrahepatic cholestasis due to citrin deficiency is generally not severe and symptoms disappear by one year of age with an appropriate diet. Years or even decades later, however, some individuals develop the characteristic features of citrullinemia type 2 with neuropsychiatric symptoms. ",
"keywords": "KW-0988:Intrahepatic cholestasis.; "
},
{
"identifier": "Perching syndrome.",
"acronym": "PERCHING.",
"accession": "DI-04779",
"synonyms": "CISS3.; Crisponi/Cold-induced sweating syndrome 3.; ",
"cross_references": "MeSH; D006945.",
"definition": "An autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic facial features, feeding and respiratory difficulties with poor overall growth, axial hypotonia, and joint contractures. The features are variable, even within families, and may also include retinitis pigmentosa, cardiac or genitourinary anomalies, and abnormal sweating. ",
"keywords": null
},
{
"identifier": "Skin creases, congenital symmetric circumferential, 1.",
"acronym": "CSCSC1.",
"accession": "DI-04628",
"synonyms": "Circumferential skin creases, Kunze type.; Circumferential skin creases Kunze type.; CSC-KT.; Michelin tire baby syndrome.; Multiple benign ring-shaped skin creases of limbs.; Skin creases, multiple benign ring-shaped, of limbs.; ",
"cross_references": "MeSH; D012868.",
"definition": "An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features. ",
"keywords": null
},
{
"identifier": "Ciliary dyskinesia, primary, 52.",
"acronym": "CILD52.",
"accession": "DI-06788",
"synonyms": "Ciliary dyskinesia, primary, 52, 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. CILD52 is an autosomal recessive form characterized by laterality defects, and mild respiratory symptoms. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"identifier": "Ciliary dyskinesia, primary, 45.",
"acronym": "CILD45.",
"accession": "DI-05780",
"synonyms": "Ciliary dyskinesia, primary, 45, 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. CILD45 is an autosomal recessive form characterized by onset of symptoms in infancy or early childhood. Male patients have infertility due to immotile sperm. ",
"keywords": "KW-0990:Primary ciliary dyskinesia.; "
},
{
"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, 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, 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, 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, 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": "Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked.",
"acronym": "IPOX.",
"accession": "DI-02438",
"synonyms": "CIIP.; CIIPX.; CIIP X-linked.; Congenital idiopathic intestinal pseudoobstruction.; ",
"cross_references": "MeSH; D007418.",
"definition": "A disease characterized by a severe abnormality of gastrointestinal motility due to primary qualitative defects of enteric ganglia and nerve fibers. Affected individuals manifest recurrent signs of intestinal obstruction in the absence of any mechanical lesion. ",
"keywords": null
}
]
}