Human Disease List
GET /api/human_diseases/?format=api&offset=6100&ordering=-identifier
{ "count": 6723, "next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6120&ordering=-identifier", "previous": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=6080&ordering=-identifier", "results": [ { "identifier": "Blepharophimosis-impaired intellectual development syndrome.", "acronym": "BIS.", "accession": "DI-06094", "synonyms": null, "cross_references": "MeSH; D008607.", "definition": "An autosomal dominant congenital syndrome characterized by blepharophimosis, facial dysmorphism, global development delay, delayed motor skills, impaired intellectual development with poor or absent speech, and behavioral abnormalities in some patients. Additional variable features include distal skeletal anomalies, feeding difficulties with poor growth, respiratory infections, and hypotonia with peripheral spasticity. ", "keywords": "KW-0991:Intellectual disability.; " }, { "identifier": "Blepharocheilodontic syndrome 2.", "acronym": "BCDS2.", "accession": "DI-05104", "synonyms": null, "cross_references": "MeSH; D014071.", "definition": "A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals. ", "keywords": "KW-0038:Ectodermal dysplasia.; " }, { "identifier": "Blepharocheilodontic syndrome 1.", "acronym": "BCDS1.", "accession": "DI-05103", "synonyms": "BCDS.; BCD SYNDROME.; Blepharocheilodontic syndrome.; Clefting, ectropion, and conical teeth.; Ectropion, inferior, with cleft lip and/or palate.; Elschnig syndrome.; Lagophthalmia with bilateral cleft lip and palate.; ", "cross_references": "MeSH; D014071.", "definition": "A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals. ", "keywords": "KW-0038:Ectodermal dysplasia.; " }, { "identifier": "Bleeding disorder, vascular-type.", "acronym": "BDVAS.", "accession": "DI-06847", "synonyms": null, "cross_references": "MeSH; D006474.", "definition": "An autosomal dominant disorder characterized by increased bleeding tendency, without platelet dysfunction. Affected individuals experience spontaneous episodic bleeding, usually beginning in childhood. Clinical manifestations include epistaxis, oral cavity bleeding, menorrhagia, and excessive bleeding during surgery or childbirth. ", "keywords": null }, { "identifier": "Bleeding disorder, platelet-type, 8.", "acronym": "BDPLT8.", "accession": "DI-02867", "synonyms": "ADP platelet receptor P2Y12 deficiency.; Bleeding disorder due to P2RY12 defect.; P2RY12 deficiency.; P2Y12 deficiency.; ", "cross_references": "MeSH; D006470.", "definition": "A condition characterized by mild to moderate mucocutaneous bleeding, and excessive bleeding after surgery or trauma. The defect is due to severe impairment of platelet response to ADP resulting in defective platelet aggregation. ", "keywords": null }, { "identifier": "Bleeding disorder, platelet-type, 25.", "acronym": "BDPLT25.", "accession": "DI-06751", "synonyms": null, "cross_references": "MeSH; D006470.", "definition": "An autosomal dominant disorder characterized by increased bleeding tendency due to decreased or dysfunctional platelets. Platelet morphologic and functional defects are variable. Some individuals have normal numbers of enlarged platelets. ", "keywords": null }, { "identifier": "Bleeding disorder, platelet-type, 24.", "acronym": "BDPLT24.", "accession": "DI-06077", "synonyms": "Bleeding disorder, platelet-type, 24, autosomal dominant.; Glanzmann thrombasthenia-like with macrothrombocytopenia 2.; ", "cross_references": "MeSH; D006470.", "definition": "An autosomal dominant disorder of platelet production characterized by congenital macrothrombocytopenia and platelet anisocytosis. Affected individuals may have no or only mildly increased bleeding tendency. ", "keywords": null }, { "identifier": "Bleeding disorder, platelet-type, 22.", "acronym": "BDPLT22.", "accession": "DI-05589", "synonyms": null, "cross_references": "MeSH; D006470.", "definition": "An autosomal recessive disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after minor injuries, and menorrhagia. ", "keywords": null }, { "identifier": "Bleeding disorder, platelet-type, 21.", "acronym": "BDPLT21.", "accession": "DI-04984", "synonyms": null, "cross_references": "MeSH; D006470.", "definition": "A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT21 patients may have mild to moderate thrombocytopenia. ", "keywords": null }, { "identifier": "Bleeding disorder, platelet-type, 20.", "acronym": "BDPLT20.", "accession": "DI-04706", "synonyms": null, "cross_references": "MeSH; D006470.", "definition": "A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT20 is characterized by moderate thrombocytopenia and platelet secretion defects. Inheritance is autosomal dominant. ", "keywords": null }, { "identifier": "Bleeding disorder, platelet-type, 19.", "acronym": "BDPLT19.", "accession": "DI-04294", "synonyms": null, "cross_references": "MeSH; D006470.", "definition": "A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. ", "keywords": null }, { "identifier": "Bleeding disorder, platelet-type, 18.", "acronym": "BDPLT18.", "accession": "DI-04150", "synonyms": null, "cross_references": "MeSH; D006470.", "definition": "A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. ", "keywords": null }, { "identifier": "Bleeding disorder, platelet-type, 17.", "acronym": "BDPLT17.", "accession": "DI-04008", "synonyms": "Autosomal dominant macrothrombocytopenia GFI1B-related.; Autosomal dominant platelet disorder GFI1B-related.; Hereditary thrombasthenia-thrombocytopenia.; ", "cross_references": "MeSH; D006470.", "definition": "An autosomal dominant disorder characterized by increased bleeding tendency due to platelet dysfunction, and associated with macrothrombocytopenia and red cell anisopoikilocytosis. Platelets appear abnormal on light microscopy, while electron microscopy shows a heterogeneous decrease of alpha granules within platelets. Bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The severity of bleeding is variable with some affected individuals experiencing spontaneous bleeding while other exhibit only abnormal bleeding with surgery. ", "keywords": null }, { "identifier": "Bleeding disorder, platelet-type, 16.", "acronym": "BDPLT16.", "accession": "DI-03752", "synonyms": "Glanzmann thrombasthenia-like with macrothrombocytopenia 1.; ", "cross_references": "MeSH; D013915.", "definition": "An autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities. ", "keywords": null }, { "identifier": "Bleeding disorder, platelet-type, 15.", "acronym": "BDPLT15.", "accession": "DI-03753", "synonyms": "Autosomal dominant macrothrombocytopenia ACTN1-related.; ", "cross_references": "MeSH; D006470.", "definition": "An autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities. ", "keywords": null }, { "identifier": "Bleeding disorder, platelet-type, 13.", "acronym": "BDPLT13.", "accession": "DI-03258", "synonyms": "Bleeding disorder due to defective platelet thromboxane A2 receptor.; ", "cross_references": "MeSH; D006470.", "definition": "A disorder characterized by reduced platelet aggregation and a tendency to mild mucocutaneous bleeding. ", "keywords": null }, { "identifier": "Bleeding disorder, platelet-type, 11.", "acronym": "BDPLT11.", "accession": "DI-03257", "synonyms": "Glycoprotein VI deficiency.; GP VI deficiency.; ", "cross_references": "MeSH; D006470.", "definition": "A mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen. ", "keywords": null }, { "identifier": "Blau syndrome.", "acronym": "BLAUS.", "accession": "DI-01286", "synonyms": "ACUG.; Arthrocutaneouveal granulomatosis.; EOS.; Familial granulomatosis blau type.; Familial granulomatous inflammatory arthritis dermatitis and uveitis.; Familial juvenile systemic granulomatosis.; Jabs syndrome.; Sarcoidosis, early-onset.; ", "cross_references": "MeSH; D014605.", "definition": "An autosomal dominant inflammatory disorder characterized by the formation of immune granulomas invading the skin, joints and eye. Other organs may be involved. Clinical manifestations are variable and include early-onset granulomatous arthritis, uveitis and skin rash. Blindness, joint destruction and visceral involvement have been reported in severe cases. ", "keywords": null }, { "identifier": "Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT.", "acronym": "BAIPRCK.", "accession": "DI-05743", "synonyms": "Atony of urinary bladder.; ", "cross_references": "MeSH; D001750.", "definition": "An autosomal recessive disease characterized by impaired innervation and autonomic dysfunction of the urinary bladder, hydronephrosis, vesicoureteral reflux, small kidneys, recurrent urinary tract infections, and progressive renal insufficiency. Additional autonomic features are impaired pupillary reflex and orthostatic hypotension. The disease manifests in utero or early childhood. ", "keywords": null }, { "identifier": "Bladder cancer.", "acronym": "BLC.", "accession": "DI-02612", "synonyms": "Urinary bladder cancer.; Urothelial carcinoma of the bladder.; ", "cross_references": "MeSH; D001749.", "definition": "A malignancy originating in tissues of the urinary bladder. It often presents with multiple tumors appearing at different times and at different sites in the bladder. Most bladder cancers are transitional cell carcinomas that begin in cells that normally make up the inner lining of the bladder. Other types of bladder cancer include squamous cell carcinoma (cancer that begins in thin, flat cells) and adenocarcinoma (cancer that begins in cells that make and release mucus and other fluids). Bladder cancer is a complex disorder with both genetic and environmental influences. ", "keywords": null } ] }