{"count":43797,"next":"https://cinder.proteo.info/api/ms_vocab/?format=json&limit=20&offset=40820&ordering=accession","previous":"https://cinder.proteo.info/api/ms_vocab/?format=json&limit=20&offset=40780&ordering=accession","results":[{"accession":"DOID:980","name":"choroidal sclerosis","definition":"[]","term_type":"cell line"},{"accession":"DOID:9821","name":"choroideremia","definition":"[]","term_type":"cell line"},{"accession":"DOID:9870","name":"galactosemia","definition":"[]","term_type":"cell line"},{"accession":"DOID:9952","name":"acute lymphoblastic leukemia","definition":"['A acute leukemia that is characterized by over production of lymphoblasts.', 'Xref MGI.']","term_type":"cell line"},{"accession":"DOID:9955","name":"hypoplastic left heart syndrome","definition":"[]","term_type":"cell line"},{"accession":"DOID:9985","name":"malignant eye neoplasm","definition":"[]","term_type":"cell line"},{"accession":"EFO:0000174","name":"Ewings sarcoma","definition":"['A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. There are conspicuous foci of necrosis in association with irregular masses of small, regular, rounded or ovoid cells with very scanty cytoplasm. The tumor occurs usually before the age of 20, about twice as frequently in males as in females. (From Dorland, 27th ed; Stedman, 25th ed)', \"A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation.  It represents one of the two ends of the spectrum called Ewing's sarcoma/peripheral neuroectodermal tumor.  It affects mostly males under age 20, and it can occur in soft tissue or bone.  Pain and the presence of a mass are the most common clinical symptoms.\", 'A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells.  Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor.  Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities.  These tumors may occur in the soft tissues or the bones.  Pain and the presence of a mass are the most common clinical symptoms.', 'A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells.  Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor.  Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities.  These tumors may occur in the soft tissues or the bones.  Pain and the presence of a mass are the most common clinical symptoms. -- 2004\\n']","term_type":"cell line"},{"accession":"EFO:0000212","name":"nephroblastoma","definition":"['A malignant mixed tumor that affects the kidneys and typically occurs in children.']","term_type":"cell line"},{"accession":"EFO:0000249","name":"Alzheimer's disease","definition":"['A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)', 'A dementia which is an incurable disease of unknown cause, starting in late middle age or in old age, that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood, that leads in advanced cases to a profound decline in cognitive and physical functioning, and that is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid.', 'A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.\\n']","term_type":"cell line"},{"accession":"EFO:0000253","name":"amyotrophic lateral sclerosis","definition":"['A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts (MeSH).', 'A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)', 'An autosomal dominant inherited form of amyloidosis.']","term_type":"cell line"},{"accession":"EFO:0000266","name":"aortic valve stenosis","definition":"['A pathological constriction that can occur above (supravalvular stenosis), below (subvalvular stenosis), or at the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.', 'Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated AS.', 'Aortic valve stenosis is a aortic valve disease caused by the incomplete opening of the aortic valve. The aortic valve controls the direction of blood flow from the left ventricle to the aorta. When in good working order, the aortic valve does not impede the flow of blood between these two spaces. Under some circumstances, the aortic valve becomes narrower than normal, impeding the flow of blood. This is known as aortic valve stenosis, or aortic stenosis, often abbreviated as AS.']","term_type":"cell line"},{"accession":"EFO:0000279","name":"azoospermia","definition":"['A condition of suboptimal concentration of SPERMATOZOA in the ejaculated SEMEN to ensure successful FERTILIZATION of an OVUM. In humans, oligospermia is defined as a sperm count below 20 million per milliliter semen.']","term_type":"cell line"},{"accession":"EFO:0000305","name":"breast carcinoma","definition":"['A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit.  It is the most common malignant tumor in females.  Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular).  Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route.  The most common site of lymph node involvement is the axilla.', 'A carcinoma that originates from breast tissue.']","term_type":"cell line"},{"accession":"EFO:0000309","name":"Burkitt's lymphoma","definition":"['A form of undifferentiated malignant LYMPHOMA usually found in central Africa, but also reported in other parts of the world. It is commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. B-cell antigens are expressed on the immature cells that make up the tumor in virtually all cases of Burkitt lymphoma. The Epstein-Barr virus (HERPESVIRUS 4, HUMAN) has been isolated from Burkitt lymphoma cases in Africa and it is implicated as the causative agent in these cases; however, most non-African cases are EBV-negative.']","term_type":"cell line"},{"accession":"EFO:0000310","name":"limb-girdle muscular dystrophy","definition":"['A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles).']","term_type":"cell line"},{"accession":"EFO:0000319","name":"cardiovascular system disease","definition":"['A body system disease which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis.', 'A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels).  Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension.  Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma. -- 2003\\n', 'A non-neoplastic or neoplastic disorder affecting the heart or the vessels (arteries, veins and lymph vessels). Representative examples of non-neoplastic cardiovascular disorders are endocarditis and hypertension. Representative examples of neoplastic cardiovascular disorders are endocardial myxoma and angiosarcoma.', 'Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM.']","term_type":"cell line"},{"accession":"EFO:0000359","name":"Cockayne syndrome","definition":"['A simple genetic disease that is caused by a rare autosomal recessive mutations in two DNA excision repair proteins, ERCC-8 and ERCC-6, and characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.', 'A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.', 'An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.', 'Caused by mutations of gene CKN1.', 'Caused by mutations of gene ERCC6.', 'Type C is a rare form. Its genetic defect is not clear; appears to be a heterogeneous group. OMIM suggests that Type C should not be used anymore.']","term_type":"cell line"},{"accession":"EFO:0000367","name":"common variable immunodeficiency","definition":"['A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM).', 'A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections. Complications include autoimmune phenomena and cancer development.', 'Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections.']","term_type":"cell line"},{"accession":"EFO:0000389","name":"skin melanoma","definition":"['A primary melanoma arising from atypical melanocytes in the skin.  Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi.  Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.\\n']","term_type":"cell line"},{"accession":"EFO:0000390","name":"cystic fibrosis","definition":"['A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi).  The sweat sodium and chloride content are increased.  Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather. -- 2003', 'A congenital metabolic disorder affecting the exocrine glands, inherited as an autosomal trait. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production which causes obstruction of passageways (including pancreatic and bile ducts, intestines, and bronchi). The sweat sodium and chloride content are increased. Symptoms usually appear in childhood and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather.']","term_type":"cell line"}]}