Human Disease List
GET /api/human_diseases/?format=api&offset=5440&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5460&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=5420&ordering=-identifier", "results": [ { "identifier": "Cone dystrophy 3.", "acronym": "COD3.", "accession": "DI-00317", "synonyms": null, "cross_references": "MeSH; D058499.", "definition": "An autosomal dominant cone dystrophy. Cone dystrophies are retinal dystrophies characterized by progressive degeneration of the cone photoreceptors with preservation of rod function, as indicated by electroretinogram. However, some rod involvement may be present in some cone dystrophies, particularly at late stage. Affected individuals suffer from photophobia, loss of visual acuity, color vision and central visual field. Another sign is the absence of macular lesions for many years. Cone dystrophies are distinguished from the cone-rod dystrophies in which some loss of peripheral vision also occurs. ", "keywords": null }, { "identifier": "Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy.", "acronym": "CHAPLE.", "accession": "DI-05079", "synonyms": null, "cross_references": "MeSH; D013927.", "definition": "An autosomal recessive disease characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, edema due to hypoproteinemia, malabsorption, and less frequently, bowel inflammation, recurrent infections, and angiopathic thromboembolic disease. Patients' T lymphocytes show increased complement activation causing surface deposition of complement and the generation of soluble C5a. ", "keywords": null }, { "identifier": "Complement factor I deficiency.", "acronym": "CFI deficiency.", "accession": "DI-01378", "synonyms": null, "cross_references": "MedGen; C3463916.", "definition": "Autosomal recessive condition associated with a propensity to pyogenic infections. ", "keywords": null }, { "identifier": "Complement factor H deficiency.", "acronym": "CFHD.", "accession": "DI-01377", "synonyms": "CFH deficiency.; Factor H deficiency.; ", "cross_references": "MeSH; D007154.", "definition": "A disorder that can manifest as several different phenotypes, including asymptomatic, recurrent bacterial infections, and renal failure. Laboratory features usually include decreased serum levels of factor H, complement component C3, and a decrease in other terminal complement components, indicating activation of the alternative complement pathway. It is associated with a number of renal diseases with variable clinical presentation and progression, including membranoproliferative glomerulonephritis and atypical hemolytic uremic syndrome. ", "keywords": null }, { "identifier": "Complement factor D deficiency.", "acronym": "CFDD.", "accession": "DI-01376", "synonyms": "Factor D deficiency.; ", "cross_references": "MeSH; D007154.", "definition": "An immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway. ", "keywords": null }, { "identifier": "Complement factor B deficiency.", "acronym": "CFBD.", "accession": "DI-04018", "synonyms": "Factor B deficiency.; ", "cross_references": "MeSH; D007154.", "definition": "An immunologic disorder characterized by increased susceptibility to bacterial infections, particularly Neisseria infections, due to a defect in the alternative complement pathway. ", "keywords": null }, { "identifier": "Complement component C1s deficiency.", "acronym": "C1SD.", "accession": "DI-02293", "synonyms": "C1s deficiency.; ", "cross_references": "MeSH; D007105.", "definition": "A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. ", "keywords": null }, { "identifier": "Complement component 9 deficiency.", "acronym": "C9D.", "accession": "DI-01383", "synonyms": "C9 deficiency.; C9 deficiency with dermatomyositis.; ", "cross_references": "MeSH; D007154.", "definition": "A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. Some patients may develop dermatomyositis. ", "keywords": null }, { "identifier": "Complement component 8 deficiency, 2.", "acronym": "C8D2.", "accession": "DI-01374", "synonyms": "C8 beta deficiency.; C8 deficiency type II.; Complement C8B deficiency.; Complement component 8 deficiency type II.; ", "cross_references": "MeSH; D007154.", "definition": "A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. ", "keywords": null }, { "identifier": "Complement component 8 deficiency, 1.", "acronym": "C8D1.", "accession": "DI-01373", "synonyms": "C8 alpha-gamma deficiency.; C8 deficiency type I.; Complement component 8 deficiency type I.; ", "cross_references": "MeSH; D007154.", "definition": "A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. ", "keywords": null }, { "identifier": "Complement component 7 deficiency.", "acronym": "C7D.", "accession": "DI-01382", "synonyms": "C7 deficiency.; ", "cross_references": "MeSH; D007154.", "definition": "A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. ", "keywords": null }, { "identifier": "Complement component 6 deficiency.", "acronym": "C6D.", "accession": "DI-01375", "synonyms": "C6 deficiency.; C6 deficiency subtotal.; Complement component 6 deficiency subtotal.; ", "cross_references": "MeSH; D007154.", "definition": "A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. ", "keywords": null }, { "identifier": "Complement component 5 deficiency.", "acronym": "C5D.", "accession": "DI-01372", "synonyms": "C5 deficiency.; ", "cross_references": "MeSH; D007154.", "definition": "A rare defect of the complement classical pathway associated with susceptibility to severe recurrent infections, predominantly by Neisseria gonorrhoeae or Neisseria meningitidis. ", "keywords": null }, { "identifier": "Complement component 4B deficiency.", "acronym": "C4BD.", "accession": "DI-03321", "synonyms": "C4B deficiency.; ", "cross_references": "MeSH; D007105.", "definition": "A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus with or without associated glomerulonephritis. ", "keywords": null }, { "identifier": "Complement component 4A deficiency.", "acronym": "C4AD.", "accession": "DI-01308", "synonyms": "C4A deficiency.; ", "cross_references": "MeSH; D007105.", "definition": "A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus with or without associated glomerulonephritis. ", "keywords": null }, { "identifier": "Complement component 3 deficiency.", "acronym": "C3D.", "accession": "DI-01307", "synonyms": "C3 deficiency autosomal recessive.; Complement component 3 deficiency autosomal recessive.; ", "cross_references": "MeSH; D007154.", "definition": "A rare defect of the complement classical pathway. Patients develop recurrent, severe, pyogenic infections because of ineffective opsonization of pathogens. Some patients may also develop autoimmune disorders, such as arthralgia and vasculitic rashes, lupus-like syndrome and membranoproliferative glomerulonephritis. ", "keywords": null }, { "identifier": "Complement component 2 deficiency.", "acronym": "C2D.", "accession": "DI-01306", "synonyms": "C2 deficiency.; ", "cross_references": "MeSH; D007105.", "definition": "A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus erythematosus. Skin and joint manifestations are common and renal disease is relatively rare. Patients with complement component 2 deficiency are also reported to have recurrent invasive infections. ", "keywords": null }, { "identifier": "Combined saposin deficiency.", "acronym": "PSAPD.", "accession": "DI-01370", "synonyms": "Combined SAP deficiency.; Prosaposin deficiency.; ", "cross_references": "MeSH; D020739.", "definition": "An autosomal recessive storage disorder characterized by hepatosplenomegaly and severe neurologic disease, due to absence of all saposins. PSAPD has a fatal outcome in infancy. ", "keywords": null }, { "identifier": "Combined oxidative phosphorylation deficiency 9.", "acronym": "COXPD9.", "accession": "DI-03428", "synonyms": null, "cross_references": "MeSH; D028361.", "definition": "A mitochondrial disease characterized by failure to thrive, poor feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor retardation. Death in infancy has been observed in some cases. ", "keywords": "KW-1274:Primary mitochondrial disease.; " }, { "identifier": "Combined oxidative phosphorylation deficiency 8.", "acronym": "COXPD8.", "accession": "DI-03184", "synonyms": "Cardiomyopathy hypertrophic mitochondrial fatal infantile.; ", "cross_references": "MeSH; D017240.", "definition": "A mitochondrial disease characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some neurologic involvement. The liver is not affected. ", "keywords": "KW-0122:Cardiomyopathy.; KW-1274:Primary mitochondrial disease.; " } ] }