{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=640&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=600&ordering=-synonyms","results":[{"identifier":"Angioedema, hereditary, 7.","acronym":"HAE7.","accession":"DI-06127","synonyms":null,"cross_references":"MeSH; D054179.","definition":"A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE7 is an autosomal dominant form characterized by onset of recurrent swelling of the face, lips, and oral mucosa in the second decade. ","keywords":null},{"identifier":"Chronic atrial and intestinal dysrhythmia.","acronym":"CAID.","accession":"DI-04314","synonyms":null,"cross_references":"MeSH; D012804.","definition":"A disease characterized by dysregulation of the cardiac sinus node resulting in sick sinus syndrome, in association with chronic intestinal pseudo-obstruction, a disorder of gastrointestinal motility in which intestinal obstruction occurs in the absence of a mechanical obstacle. ","keywords":null},{"identifier":"Angioedema, hereditary, 8.","acronym":"HAE8.","accession":"DI-06128","synonyms":null,"cross_references":"MeSH; D054179.","definition":"A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE8 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Al-Gazali syndrome.","acronym":"ALGAZ.","accession":"DI-05819","synonyms":null,"cross_references":"MeSH; D000015.","definition":"A severe disorder characterized by prenatal growth retardation, large joints contractures, camptodactyly, bilateral talipes equinovarus, small mouth, anterior segment anomalies of the eyes, and early lethality. The transmission pattern of the disorder is consistent with autosomal recessive inheritance. ","keywords":null},{"identifier":"Angiomatoid fibrous histiocytoma.","acronym":"AFH.","accession":"DI-02611","synonyms":null,"cross_references":"MeSH; D051677.","definition":"A distinct variant of malignant fibrous histiocytoma that typically occurs in children and adolescents and is manifest by nodular subcutaneous growth. Characteristic microscopic features include lobulated sheets of histiocyte-like cells intimately associated with areas of hemorrhage and cystic pseudovascular spaces, as well as a striking cuffing of inflammatory cells, mimicking a lymph node metastasis. ","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, 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, 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, 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, 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":"Al-Raqad syndrome.","acronym":"ARS.","accession":"DI-04480","synonyms":null,"cross_references":"MeSH; D000015.","definition":"A syndrome characterized by delayed psychomotor development, moderate to severe intellectual disability, poor or absent speech, microcephaly, congenital hypotonia, and severe growth delay. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Cardiomyopathy, dilated, 1Z.","acronym":"CMD1Z.","accession":"DI-00228","synonyms":null,"cross_references":"MeSH; D002311.","definition":"A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Aniridia 2.","acronym":"AN2.","accession":"DI-04858","synonyms":null,"cross_references":"MeSH; D015783.","definition":"A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. ","keywords":null},{"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":"Aniridia 3.","acronym":"AN3.","accession":"DI-04859","synonyms":null,"cross_references":"MeSH; D015783.","definition":"A form of aniridia, a congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time. ","keywords":null},{"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":"Alacrima, achalasia, and impaired intellectual development syndrome.","acronym":"AAMR.","accession":"DI-03937","synonyms":null,"cross_references":"MeSH; D008607.","definition":"An autosomal recessive disorder characterized by onset of alacrima, achalasia, and intellectual disability at birth or in early infancy. More variable features include hypotonia, gait abnormalities, anisocoria, and visual or hearing deficits. The disorder shows similarity to the triple A syndrome, but patients with AAMR do not have adrenal insufficiency. ","keywords":"KW-0991:Intellectual disability.; "},{"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":"Blistering, acantholytic, of oral and laryngeal mucosa.","acronym":"ABOLM.","accession":"DI-06040","synonyms":null,"cross_references":"MeSH; D009059.","definition":"An autosomal recessive disorder characterized by recurrent, suprabasal acantholytic blisters in the oral and laryngeal mucosa. Skin, conjunctival and genital mucosa, nail folds, and nails are unaffected. Normal structure is observed in the scalp epidermis and hair follicle. ","keywords":null},{"identifier":"Corticosterone methyloxidase 2 deficiency.","acronym":"CMO-2 deficiency.","accession":"DI-01435","synonyms":null,"cross_references":"MedGen; CN074247.","definition":"Autosomal recessive disorder of aldosterone biosynthesis. In CMO-2 deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-hydroxycorticosterone. Consequently, patients have a greatly increased ratio of 18-hydroxycorticosterone to aldosterone and a low ratio of corticosterone to 18- hydroxycorticosterone in serum. ","keywords":null}]}