{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=200&ordering=-synonyms","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=160&ordering=-synonyms","results":[{"identifier":"Alpha-1-antitrypsin deficiency.","acronym":"A1ATD.","accession":"DI-02928","synonyms":null,"cross_references":"MeSH; D019896.","definition":"A disorder whose most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure. Environmental factors, particularly cigarette smoking, greatly increase the risk of emphysema at an earlier age. ","keywords":null},{"identifier":"Acromicric dysplasia.","acronym":"ACMICD.","accession":"DI-03225","synonyms":null,"cross_references":"MeSH; D001848.","definition":"An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well- defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal. ","keywords":"KW-0242:Dwarfism.; "},{"identifier":"Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia.","acronym":"ALS12.","accession":"DI-02705","synonyms":null,"cross_references":"MeSH; D057180.","definition":"A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS12 inheritance can be autosomal dominant or autosomal recessive. There is also sporadic occurrence. ALS12 patients may develop frontotemporal dementia. ","keywords":"KW-0036:Amyotrophic lateral sclerosis.; "},{"identifier":"Alpha-fetoprotein deficiency.","acronym":"AFPD.","accession":"DI-04204","synonyms":null,"cross_references":"MeSH; D008661.","definition":"A benign condition characterized by undetectable AFP levels in the amniotic fluid. Affected individuals are asymptomatic and present normal development. ","keywords":null},{"identifier":"Alpha-fetoprotein, hereditary persistence.","acronym":"HPAFP.","accession":"DI-04205","synonyms":null,"cross_references":"MeSH; D008661.","definition":"A benign autosomal dominant condition characterized by continued expression of alpha-fetoprotein in adult life. ","keywords":null},{"identifier":"Aplasia cutis-enamel dysplasia.","acronym":"ACED.","accession":"DI-06886","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal dominant disorder characterized by congenital absence of a portion of skin of the scalp with or without skull defects, enamel hypoplasia, and neurodevelopmental delay with autism spectrum disorder. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Alpha-thalassemia.","acronym":"A-THAL.","accession":"DI-01181","synonyms":null,"cross_references":"MeSH; D017085.","definition":"A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range from none to very nearly normal levels. Deletion of both copies of each of the two alpha-globin genes causes alpha(0)- thalassemia, also known as homozygous alpha thalassemia. Due to the complete absence of alpha chains, the predominant fetal hemoglobin is a tetramer of gamma-chains (Bart hemoglobin) that has essentially no oxygen carrying capacity. This causes oxygen starvation in the fetal tissues leading to prenatal lethality or early neonatal death. The loss of two alpha genes results in mild alpha-thalassemia, also known as heterozygous alpha-thalassemia. Affected individuals have small red cells and a mild anemia (microcytosis). If three of the four alpha- globin genes are functional, individuals are completely asymptomatic. Some rare forms of alpha-thalassemia are due to point mutations (non- deletional alpha-thalassemia). ","keywords":"KW-0360:Hereditary hemolytic anemia.; "},{"identifier":"Abdominal obesity-metabolic syndrome 4.","acronym":"AOMS4.","accession":"DI-05676","synonyms":null,"cross_references":"MeSH; D024821.","definition":"A form of abdominal obesity-metabolic syndrome, a disorder characterized by abdominal obesity, high triglycerides, low levels of high density lipoprotein cholesterol, high blood pressure, and elevated fasting glucose levels. AOMS4 is an autosomal dominant disease. Patients manifest obesity, hypertension, early-onset coronary artery disease and type 2 diabetes. ","keywords":"KW-0219:Diabetes mellitus.; KW-0550:Obesity.; "},{"identifier":"Anemia, sideroblastic, 4.","acronym":"SIDBA4.","accession":"DI-04677","synonyms":null,"cross_references":"MeSH; D000756.","definition":"A form of sideroblastic anemia, a bone marrow disorder defined by the presence of pathologic iron deposits in erythroblast mitochondria. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus. SIDBA4 has been reported to be inherited as an autosomal recessive disease, with a pseudodominant pattern of inheritance in some families. ","keywords":null},{"identifier":"Alpha/beta T-cell lymphopenia, with gamma/delta T-cell expansion, severe cytomegalovirus infection and autoimmunity.","acronym":"T-CMVA.","accession":"DI-01182","synonyms":null,"cross_references":"MeSH; D015551.","definition":"An immunological disorder characterized by oligoclonal expansion of TCR gamma/delta T-cells, TCR alpha/beta T-cell lymphopenia, severe, disseminated cytomegalovirus infection and autoimmune cytopenia. ","keywords":null},{"identifier":"Arterial calcification of infancy, generalized, 2.","acronym":"GACI2.","accession":"DI-03382","synonyms":null,"cross_references":"MeSH; D061205.","definition":"A severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. The disorder is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure. ","keywords":null},{"identifier":"Alport syndrome 2, autosomal recessive.","acronym":"ATS2.","accession":"DI-00080","synonyms":null,"cross_references":"MeSH; D009394.","definition":"A syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. ","keywords":"KW-0023:Alport syndrome.; KW-0209:Deafness.; "},{"identifier":"Atrial septal defect 3.","acronym":"ASD3.","accession":"DI-00151","synonyms":null,"cross_references":"MeSH; D006344.","definition":"A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. ","keywords":"KW-0976:Atrial septal defect.; "},{"identifier":"Cardiomyopathy, dilated, 1S.","acronym":"CMD1S.","accession":"DI-00224","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":"Alport syndrome 3B, autosomal recessive.","acronym":"ATS3B.","accession":"DI-06774","synonyms":null,"cross_references":"MeSH; D009394.","definition":"A form of Alport syndrome, a syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. ","keywords":"KW-0023:Alport syndrome.; KW-0209:Deafness.; "},{"identifier":"Ablepharon-macrostomia syndrome.","acronym":"AMS.","accession":"DI-04542","synonyms":null,"cross_references":"MeSH; D008265.","definition":"A congenital ectodermal dysplasia characterized by absent eyelids, macrostomia, microtia, redundant skin, sparse hair, dysmorphic nose and ears, variable abnormalities of the nipples, genitalia, fingers, and hands, largely normal intellectual and motor development, and poor growth. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"identifier":"Alternating hemiplegia of childhood 1.","acronym":"AHC1.","accession":"DI-00084","synonyms":null,"cross_references":"MeSH; D006429.","definition":"A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age. ","keywords":null},{"identifier":"Alternating hemiplegia of childhood 2.","acronym":"AHC2.","accession":"DI-03527","synonyms":null,"cross_references":"MeSH; D006429.","definition":"A rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated neurological deficits that become increasingly obvious with age. ","keywords":null},{"identifier":"Angioedema, hereditary, 6.","acronym":"HAE6.","accession":"DI-06126","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. HAE6 is an autosomal dominant form with onset in adulthood. ","keywords":null},{"identifier":"B-cell expansion with NFKB and T-cell anergy.","acronym":"BENTA.","accession":"DI-04476","synonyms":null,"cross_references":"MeSH; D008218.","definition":"An autosomal dominant condition characterized by onset in infancy of splenomegaly and polyclonal expansion of B cells, resulting in peripheral lymphocytosis. Affected individuals also show mild immune dysfunction, including some defective antibody responses and T-cell anergy. There may be a predisposition to the development of B-cell malignancy. ","keywords":null}]}