{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=340","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=300","results":[{"identifier":"Aortic aneurysm, familial thoracic 11.","acronym":"AAT11.","accession":"DI-04950","synonyms":null,"cross_references":"MeSH; D017545.","definition":"A form of thoracic aortic aneurysm, a disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. ","keywords":"KW-0993:Aortic aneurysm.; "},{"identifier":"Aortic aneurysm, familial thoracic 12.","acronym":"AAT12.","accession":"DI-06389","synonyms":null,"cross_references":"MeSH; D017545.","definition":"A form of thoracic aortic aneurysm, a disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. AAT12 is an autosomal dominant disease manifesting with aortic dissection and progressive dilation of the aortic root, ascending aorta, and abdominal aorta. ","keywords":"KW-0993:Aortic aneurysm.; "},{"identifier":"Aortic aneurysm, familial thoracic 4.","acronym":"AAT4.","accession":"DI-00128","synonyms":"Aortic aneurysm/aortic dissection and patent ductus arteriosus.; FAA4.; Familial aortic aneurysm 4.; Non-syndromic thoracic aortic aneurysms and dissection.; TAAD.; Thoracic aortic aneurysms and dissection.; ","cross_references":"MeSH; D017545.","definition":"A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. ","keywords":"KW-0993:Aortic aneurysm.; "},{"identifier":"Aortic aneurysm, familial thoracic 6.","acronym":"AAT6.","accession":"DI-00130","synonyms":"Familial thoracic aortic aneurysm with livedo reticularis and iris flocculi.; ","cross_references":"MeSH; D017545.","definition":"A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. ","keywords":"KW-0993:Aortic aneurysm.; "},{"identifier":"Aortic aneurysm, familial thoracic 7.","acronym":"AAT7.","accession":"DI-03062","synonyms":"Aortic dissection familial with or without aortic aneurysm.; ","cross_references":"MeSH; D017545.","definition":"A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. ","keywords":"KW-0993:Aortic aneurysm.; "},{"identifier":"Aortic aneurysm, familial thoracic 8.","acronym":"AAT8.","accession":"DI-03894","synonyms":null,"cross_references":"MeSH; D017545.","definition":"A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. ","keywords":"KW-0993:Aortic aneurysm.; "},{"identifier":"Aortic aneurysm, familial thoracic 9.","acronym":"AAT9.","accession":"DI-04293","synonyms":"Aortic aneurysm, thoracic, with or without aortic dissection.; ","cross_references":"MeSH; D017545.","definition":"A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. ","keywords":"KW-0993:Aortic aneurysm.; "},{"identifier":"Aortic valve disease 1.","acronym":"AOVD1.","accession":"DI-01186","synonyms":"Aortic valve disease.; BAV.; Bicuspid aortic valve.; Calcific aortic stenosis.; Calcification of aortic valve.; ","cross_references":"MeSH; D001024.","definition":"A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. ","keywords":null},{"identifier":"Aortic valve disease 2.","acronym":"AOVD2.","accession":"DI-03529","synonyms":"Aortic valve stenosis.; Bicuspid aortic valve.; ","cross_references":"MeSH; D001024.","definition":"A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. ","keywords":null},{"identifier":"Aortic valve disease 3.","acronym":"AOVD3.","accession":"DI-05612","synonyms":"Aortic valve stenosis.; Bicuspid aortic valve.; ","cross_references":"MeSH; D001024.","definition":"A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. AOVD3 features are bicuspid aortic valve, aortic valve stenosis, and ascending aortic aneurysm. Some patients have atrial septal defects. AOVD3 inheritance is autosomal dominant with incomplete penetrance. ","keywords":null},{"identifier":"Apert syndrome.","acronym":"APRS.","accession":"DI-00131","synonyms":"Acrocephalosyndactyly type 1.; ACS1.; ACS I.; ","cross_references":"MeSH; D000168.","definition":"A syndrome characterized by facio-cranio-synostosis, osseous and membranous syndactyly of the four extremities, and midface hypoplasia. The craniosynostosis is bicoronal and results in acrocephaly of brachysphenocephalic type. Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits. Intellectual deficit is frequent and often severe, usually being associated with cerebral malformations. ","keywords":"KW-0989:Craniosynostosis.; "},{"identifier":"Aplasia cutis congenita, non-syndromic.","acronym":"ACC.","accession":"DI-04202","synonyms":"Congenital defect of skull and scalp.; Congenital scalp defect.; ","cross_references":"MeSH; D004476.","definition":"A disorder characterized by congenital absence of a portion of skin in a localized or widespread area of the body. The lesions are most commonly localized on the scalp, however aplasia cutis congenita can affect any part of the body. ","keywords":"KW-0038:Ectodermal dysplasia.; "},{"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":"Aplasia of lacrimal and salivary glands.","acronym":"ALSG.","accession":"DI-01199","synonyms":"Absence of salivary glands.; Parotid aplasia or hypoplasia.; ","cross_references":"MeSH; D014987.","definition":"A rare condition characterized by dry conjunctival mucosae, irritable eyes, epiphora (constant tearing), and xerostomia (dryness of the mouth), which increases risk of dental erosion, dental caries, periodontal disease, and oral infections. ALSG has variable expressivity, and affected individuals may have aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands and absence of the lacrimal puncta. ","keywords":null},{"identifier":"Aplasia or hypoplasia of the breasts and/or nipples 2.","acronym":"BNAH2.","accession":"DI-04216","synonyms":null,"cross_references":"MeSH; D001941.","definition":"A group of congenital deformities encompassing total absence of breasts and nipple (amastia), absence of the nipple (athelia), and absence of the mammary gland (amazia). ","keywords":null},{"identifier":"Aplastic anemia.","acronym":"AA.","accession":"DI-02842","synonyms":null,"cross_references":"MeSH; D000741.","definition":"A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia. ","keywords":null},{"identifier":"Apparent mineralocorticoid excess.","acronym":"AME.","accession":"DI-01187","synonyms":"AME1.; Cortisol 11-beta-ketoreductase deficiency.; ","cross_references":"MeSH; D043204.","definition":"An autosomal recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis. ","keywords":null},{"identifier":"Arboleda-Tham syndrome.","acronym":"ARTHS.","accession":"DI-04351","synonyms":"KAT6A syndrome.; MRD32.; ","cross_references":"MeSH; D008607.","definition":"An autosomal dominant disorder characterized by intellectual disability, dysmorphic facial features, delayed psychomotor development, and lack of speech. ","keywords":"KW-0991:Intellectual disability.; "},{"identifier":"Argininemia.","acronym":"ARGIN.","accession":"DI-00132","synonyms":"ARG1 deficiency.; Arginase-1 deficiency.; Arginase deficiency.; Hyperargininemia.; ","cross_references":"MeSH; D020162.","definition":"A rare autosomal recessive disorder of the urea cycle. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia occurs. Clinical manifestations include developmental delay, seizures, intellectual disability, hypotonia, ataxia and progressive spastic quadriplegia. ","keywords":null},{"identifier":"Argininosuccinic aciduria.","acronym":"ARGINSA.","accession":"DI-00133","synonyms":"Argininosuccinase deficiency.; Argininosuccinic acid lyase deficiency.; ASAuria.; ASL deficiency.; ","cross_references":"MeSH; D000592.","definition":"An autosomal recessive disorder of the urea cycle. The disease is characterized by mental and physical retardation, liver enlargement, skin lesions, dry and brittle hair showing trichorrhexis nodosa microscopically and fluorescing red, convulsions, and episodic unconsciousness. ","keywords":null}]}