Human Disease List
GET /api/human_diseases/?format=api&offset=5620&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5640&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5600&ordering=-identifier", "results": [ { "identifier": "Ciliary dyskinesia, primary, 24.", "acronym": "CILD24.", "accession": "DI-03916", "synonyms": null, "cross_references": "MeSH; D002925.", "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. Situs inversus is not observed in CILD24 patients. ", "keywords": "KW-0990:Primary ciliary dyskinesia.; " }, { "identifier": "Ciliary dyskinesia, primary, 23.", "acronym": "CILD23.", "accession": "DI-03903", "synonyms": "Primary ciliary dyskinesia 23 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, 22.", "acronym": "CILD22.", "accession": "DI-03904", "synonyms": "Primary ciliary dyskinesia 22 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, 21.", "acronym": "CILD21.", "accession": "DI-03807", "synonyms": "Primary ciliary dyskinesia 21 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-0990:Primary ciliary dyskinesia.; " }, { "identifier": "Ciliary dyskinesia, primary, 20.", "acronym": "CILD20.", "accession": "DI-03643", "synonyms": "ICS20.; Immotile cilia syndrome 20.; Primary ciliary dyskinesia 20 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. Unlike other forms of CILD characterized by reduced fertility, patients with CILD20 do not appear to be infertile. ", "keywords": "KW-1012:Kartagener syndrome.; " }, { "identifier": "Ciliary dyskinesia, primary, 2.", "acronym": "CILD2.", "accession": "DI-03362", "synonyms": "ICS2.; Immotile cilia syndrome 2.; Primary ciliary dyskinesia 2 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; 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, 19.", "acronym": "CILD19.", "accession": "DI-03564", "synonyms": "ICS19.; Immotile cilia syndrome 19.; Primary ciliary dyskinesia 19 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; 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, 18.", "acronym": "CILD18.", "accession": "DI-03539", "synonyms": "ICS18.; Immotile cilia syndrome 18.; Primary ciliary dyskinesia 18 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; 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, 17.", "acronym": "CILD17.", "accession": "DI-03466", "synonyms": "ICS17.; Immotile cilia syndrome 17.; Primary ciliary dyskinesia 17 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; 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, 16.", "acronym": "CILD16.", "accession": "DI-03134", "synonyms": "ICS16.; Immotile cilia syndrome 16.; Primary ciliary dyskinesia 16 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; 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, 15.", "acronym": "CILD15.", "accession": "DI-03025", "synonyms": "ICS15.; Immotile cilia syndrome 15.; Primary ciliary dyskinesia 15 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; 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, 14.", "acronym": "CILD14.", "accession": "DI-03024", "synonyms": "ICS14.; Immotile cilia syndrome 14.; Primary ciliary dyskinesia 14 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; 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, 13.", "acronym": "CILD13.", "accession": "DI-02569", "synonyms": "ICS13.; Immotile cilia syndrome 13.; Primary ciliary dyskinesia 13 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; 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. At ultrastructural level, CILD13 is characterized by a marked reduction or absence of both dynein arms from the patients cilia. ", "keywords": "KW-1012:Kartagener syndrome.; " }, { "identifier": "Ciliary dyskinesia, primary, 12.", "acronym": "CILD12.", "accession": "DI-02200", "synonyms": "ICS12.; Immotile cilia syndrome 12.; Primary ciliary dyskinesia 12 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ", "keywords": "KW-1012:Kartagener syndrome.; " }, { "identifier": "Ciliary dyskinesia, primary, 11.", "acronym": "CILD11.", "accession": "DI-02199", "synonyms": "ICS11.; Immotile cilia syndrome 11.; Primary ciliary dyskinesia 11 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit situs inversus, due to dysfunction of monocilia at the embryonic node and randomization of left-right body asymmetry. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. ", "keywords": "KW-1012:Kartagener syndrome.; " }, { "identifier": "Ciliary dyskinesia, primary, 10.", "acronym": "CILD10.", "accession": "DI-00934", "synonyms": "ICS10.; Immotile cilia syndrome 10.; Primary ciliary dyskinesia 10 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; 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, 1.", "acronym": "CILD1.", "accession": "DI-00929", "synonyms": "ICS1.; Immotile cilia syndrome 1.; PCD.; Primary ciliary dyskinesia.; ", "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-0990:Primary ciliary dyskinesia.; " }, { "identifier": "Chylomicron retention disease.", "acronym": "CMRD.", "accession": "DI-00308", "synonyms": "ANDD.; Anderson disease.; Hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells.; Lipid transport defect of intestine.; ", "cross_references": "MeSH; D008286.", "definition": "An autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. The condition is characterized by deficiency of fat-soluble vitamins, low blood cholesterol levels, and a selective absence of chylomicrons from blood. Affected individuals accumulate chylomicron-like particles in membrane-bound compartments of enterocytes, which contain large cytosolic lipid droplets. ", "keywords": null }, { "identifier": "Chung-Jansen syndrome.", "acronym": "CHUJANS.", "accession": "DI-05259", "synonyms": "Developmental delay, intellectual disability, obesity, and dysmorphic features.; DIDOD.; ", "cross_references": "MeSH; D065886.", "definition": "An autosomal dominant disorder characterized by developmental delay, intellectual disability, autistic features, anxiety, hypotonia, obesity, and dysmorphic features. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Chudley-McCullough syndrome.", "acronym": "CMCS.", "accession": "DI-02897", "synonyms": "Deafness autosomal recessive 82.; DFNB82.; Sensorineural deafness with partial agenesis of the corpus callosum and arachnoid cysts.; ", "cross_references": "MeSH; D061085.", "definition": "An autosomal recessive neurologic disorder characterized by early- onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal. ", "keywords": "KW-0209:Deafness.; " } ] }