{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6240&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=6200&ordering=-synonyms","results":[{"identifier":"Leukemia, chronic myeloid, atypical.","acronym":"ACML.","accession":"DI-03829","synonyms":"Atypical chronic myeloid leukemia BCR-ABL1 negative.; ","cross_references":"MeSH; D015464.","definition":"A myeloproliferative disorder that shares clinical and laboratory features with chronic myeloid leukemia but lacks the pathognomonic Philadelphia chromosome and the corresponding BCR/ABL1 fusion transcript. Features include myeloid predominance in the bone marrow, myeloid proliferation and low leukocyte alkaline phosphatase value, splenomegaly, hepatomegaly, elevated white blood cell count. Enlarged spleen may also be associated with a hypermetabolic state, fever, weight loss, and chronic fatigue. The enlarged liver may contribute to the patient's weight loss. ","keywords":null},{"identifier":"Norrie disease.","acronym":"ND.","accession":"DI-02079","synonyms":"Atrophia bulborum hereditaria.; Episkopi blindness.; ","cross_references":"MedGen; C0266526.","definition":"Recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizure. ","keywords":null},{"identifier":"Alpha-thalassemia/impaired intellectual development syndrome, X-linked.","acronym":"ATRX.","accession":"DI-02428","synonyms":"ATR nondeletion type.; ATR-X.; ATR-X syndrome.; ","cross_references":"MeSH; D038901.","definition":"A disorder characterized by severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia. An essential phenotypic trait are hemoglobin H erythrocyte inclusions. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Sick sinus syndrome 2.","acronym":"SSS2.","accession":"DI-01029","synonyms":"Atrial fibrillation with bradyarrhythmia.; Autosomal dominant sick sinus syndrome 2.; Familial sinus bradycardia syndrome autosomal dominant.; Sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation.; Sinus bradycardia syndrome, familial, autosomal dominant.; Sinus node disease, familial, autosomal dominant.; SSS autosomal dominant.; ","cross_references":"MeSH; D012804.","definition":"The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS2 onset is in utero or at birth. ","keywords":null},{"identifier":"Atrial standstill 2.","acronym":"ATRST2.","accession":"DI-04075","synonyms":"Atrial dilated cardiomyopathy with atrial standstill.; Atrial dilation and standstill.; ","cross_references":"MeSH; D009202.","definition":"A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Atrial standstill 1.","acronym":"ATRST1.","accession":"DI-01557","synonyms":"Atrial cardiomyopathy with heart block.; Familial cardiomyopathy with conduction disturbance.; ","cross_references":"MeSH; D009202.","definition":"A rare arrhythmia characterized by the absence of electrical and mechanical activity in the atria. Electrocardiographically, it is characterized by bradycardia, the absence of P waves, and a junctional narrow complex escape rhythm. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Mitochondrial complex V deficiency, nuclear type 1.","acronym":"MC5DN1.","accession":"DI-01381","synonyms":"ATPAF2 deficiency.; ATPase deficiency.; ATP synthase deficiency.; Complex 5 mitochondrial respiratory chain deficiency.; Complex V mitochondrial respiratory chain deficiency.; Mitochondrial complex V (ATP synthase) deficiency, ATPAF2 type.; Mitochondrial complex V (ATP synthase) deficiency type 1.; ","cross_references":"MeSH; D017237.","definition":"A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Atopic hypersensitivity.","acronym":"ATOPY.","accession":"DI-03286","synonyms":"Atopy.; ","cross_references":"MeSH; D006969.","definition":"A condition characterized by predisposition to develop hypersensitivity reactions. Atopic individuals can develop eczema, allergic rhinitis and allergic asthma. ","keywords":null},{"identifier":"Dermatitis atopic 2.","acronym":"ATOD2.","accession":"DI-01194","synonyms":"Atopic eczema.; ","cross_references":"MeSH; D003876.","definition":"Atopic dermatitis is a complex, inflammatory disease with multiple alleles at several loci thought to be involved in the pathogenesis. It commonly begins in infancy or early childhood and is characterized by a chronic relapsing form of skin inflammation, a disturbance of epidermal barrier function that culminates in dry skin, and IgE- mediated sensitization to food and environmental allergens. It is manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee. ","keywords":null},{"identifier":"Autoinflammation, immune dysregulation, and eosinophilia.","acronym":"AIIDE.","accession":"DI-05905","synonyms":"Atopic dermatitis, enteritis, colitis, and eosinophilia.; ","cross_references":"MeSH; D056660.","definition":"An autosomal dominant disorder characterized by immune dysregulation, severe atopic dermatitis, and chronic gastrointestinal inflammation. Additional features include asthma, food or environmental allergies, as well as poor overall growth with short stature. ","keywords":null},{"identifier":"Immunodeficiency 11B with atopic dermatitis.","acronym":"IMD11B.","accession":"DI-05074","synonyms":"Atopic dermatitis, elevated IgE, and eosinophilia.; ","cross_references":"MeSH; D007153.","definition":"An autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood. Some patients may have recurrent infections and other variable immune abnormalities. Laboratory studies show defects in T-cell activation, increased IgE, and eosinophilia. ","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":"Bamforth-Lazarus syndrome.","acronym":"BAMLAZ.","accession":"DI-01267","synonyms":"Athyroidal hypothyroidism with spiky hair and cleft palate.; ","cross_references":"MeSH; D007037.","definition":"An autosomal recessive disease characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, spiky hair, with or without choanal atresia, and bifid epiglottis. ","keywords":null},{"identifier":"Hypothyroidism, congenital, non-goitrous, 2.","acronym":"CHNG2.","accession":"DI-00363","synonyms":"Athyreotic hypothyroidism.; Congenital hypothyroidism due to thyroid dysgenesis.; RTSH.; Thyroid dysgenesis.; Thyroid-stimulating hormone resistance.; Thyrotropin resistance.; ","cross_references":"MeSH; D050033.","definition":"A disease characterized by thyroid dysgenesis, the most frequent cause of congenital hypothyroidism, accounting for 85% of case. The thyroid gland can be completely absent (athyreosis), ectopically located and/or severely hypoplastic. Ectopic thyroid gland is the most frequent malformation, with thyroid tissue being found most often at the base of the tongue. ","keywords":"KW-0984:Congenital hypothyroidism.; "},{"identifier":"Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation.","acronym":"RSSCID.","accession":"DI-01020","synonyms":"Athabascan SCID.; SCIDA.; Severe combined immunodeficiency with sensitivity to ionizing radiation.; ","cross_references":"MeSH; D016511.","definition":"A form of severe combined immunodeficiency, a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Individuals affected by RS-SCID show defects in the DNA repair machinery necessary for coding joint formation and the completion of V(D)J recombination. A subset of cells from such patients show increased radiosensitivity. ","keywords":"KW-0705:SCID.; "},{"identifier":"Pituitary hormone deficiency, combined, 2.","acronym":"CPHD2.","accession":"DI-01369","synonyms":"Ateliotic dwarfism with hypogonadism.; Hanhart dwarfism.; Panhypopituitarism.; Pituitary dwarfism III.; ","cross_references":"MeSH; D007018.","definition":"Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD2 is characterized by pleiotropic deficiencies of growth hormone, thyroid-stimulating hormone, follicle- stimulating hormone, luteinizing hormone, prolactin and adrenocorticotropic hormone. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Ataxia-telangiectasia-like disorder 1.","acronym":"ATLD1.","accession":"DI-00140","synonyms":"Ataxia-telangiectasia-like disorder.; ATLD.; ","cross_references":"MeSH; D049914.","definition":"A rare disorder characterized by progressive cerebellar ataxia, dysarthria, abnormal eye movements, and absence of telangiectasia. ATLD patients show normal levels of total IgG, IgA and IgM, although there may be reduced levels of specific functional antibodies. At the cellular level, ATLD exhibits hypersensitivity to ionizing radiation and radioresistant DNA synthesis. ","keywords":null},{"identifier":"Pyruvate dehydrogenase E1-alpha deficiency.","acronym":"PDHAD.","accession":"DI-02238","synonyms":"Ataxia intermittent with abnormal pyruvate metabolism.; Ataxia intermittent with pyruvate dehydrogenase or decarboxylase deficiency.; Ataxia with lactic acidosis I.; PDH deficiency.; Pyruvate decarboxylase deficiency.; Pyruvate dehydrogenase deficiency.; ","cross_references":"MeSH; D015325.","definition":"An enzymatic defect causing primary lactic acidosis in children. It is associated with a broad clinical spectrum ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis. ","keywords":null},{"identifier":"Ataxia with vitamin E deficiency.","acronym":"AVED.","accession":"DI-00141","synonyms":"Ataxia Friedreich-like with selective vitamin E deficiency.; Familial isolated vitamin E deficiency.; ","cross_references":"MeSH; D014811.","definition":"An autosomal recessive disease characterized by undetectable or markedly reduced plasma levels of vitamin E, spinocerebellar degeneration, ataxia, areflexia and proprioception loss. ","keywords":null},{"identifier":"Ataxia telangiectasia.","acronym":"AT.","accession":"DI-00139","synonyms":"AT1.; Ataxia-telangiectasia.; Louis-Bar syndrome.; ","cross_references":"MeSH; D001260.","definition":"A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation. ","keywords":"KW-0523:Neurodegeneration.; "}]}