EFO_0000096 neoplasm of mature B-cells A low-grade malignant lymphoma of follicular pattern in which there is no clear preponderance of one cell type (small or large) over another. The large cells, cleaved or noncleaved, are often 2-3 times larger in diameter than normal lymphocytes.;A low-grade malignant lymphoma of predominantly follicular pattern. Follicles are of relatively uniform size and shape and the cells are usually somewhat larger than normal lymphocytes. Nuclei are irregular with prominent indentations and cytoplasm can rarely be identified. Cells exhibiting these characteristics are often called centrocytes.;Malignant lymphoma in which the lymphomatous cells are clustered into identifiable nodules within the LYMPH NODES. The nodules resemble to some extent the GERMINAL CENTER of lymph node follicles and most likely represent neoplastic proliferation of lymph node-derived follicular center B-LYMPHOCYTES.;Malignant lymphoma in which the majority of neoplastic cells within the follicles are large cleaved or noncleaved cells. The degree to which the follicular center cells retain their ability to form follicles varies with the state of B-cell transformation.;The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma. -- 2003 B-Cell Non Hodgkin's Lymphoma;B-Cell Non-Hodgkin Lymphoma;B-Cell Non-Hodgkin's Lymphoma;B-cell lymphoma;BRILL SYMMERS DIS;Brill Symmers Disease;Brill-Symmers Disease;Disease, Brill-Symmers;FOLLIC LARGE LYMPHOMA;FOLLIC LYMPHOMA;FOLLIC LYMPHOMA GIANT;FOLLIC MIXED LYMPHOMA;Follicular Large Cell Lymphoma;Follicular Large-Cell Lymphoma;Follicular Large-Cell Lymphomas;Follicular Lymphoma;Follicular Lymphoma, Giant;Follicular Lymphoma, Grade 1;Follicular Lymphoma, Grade 2;Follicular Lymphoma, Grade 3;Follicular Lymphomas;Follicular Lymphomas, Giant;Follicular Mixed Cell Lymphoma;Follicular Mixed-Cell Lymphoma;Follicular Mixed-Cell Lymphomas;GIANT FOLLIC LYMPHOMA;Giant Follicular Lymphoma;Giant Follicular Lymphomas;Histiocytic Lymphoma, Nodular;Histiocytic Lymphomas, Nodular;LARGE LYMPHOMA FOLLIC;LYMPHOCYTIC LYMPHOMA NODULAR POORLY DIFFER;LYMPHOMA FOLLIC;LYMPHOMA FOLLIC LARGE;LYMPHOMA FOLLIC MIXED;LYMPHOMA FOLLIC MIXED LYMPHOCYTIC HISTIOCYTIC;LYMPHOMA FOLLIC MIXED SMALL LARGE LYMPHOID;LYMPHOMA FOLLIC SMALL LARGE CLEAVED;LYMPHOMA GIANT FOLLIC;LYMPHOMA LARGE FOLLIC;LYMPHOMA LYMPHOCYTIC NODULAR POORLY DIFFER;LYMPHOMA MIXED FOLLIC;LYMPHOMA NODULAR LARGE FOLLIC CENTER;LYMPHOMA NODULAR MIXED SMALL LARGE;LYMPHOMA SMALL CLEAVED CELL FOLLIC;LYMPHOMA SMALL CLEAVED FOLLIC;LYMPHOMA SMALL FOLLIC CENTER;LYMPHOMA SMALL LYMPHOID FOLLIC;Large Cell Lymphoma, Follicular;Large Lymphoid Lymphoma, Nodular;Large-Cell Lymphoma, Follicular;Large-Cell Lymphomas, Follicular;Lymphocytic Lymphoma, Nodular, Poorly Differentiated;Lymphocytic Lymphoma, Nodular, Poorly-Differentiated;Lymphoma, Follicular;Lymphoma, Follicular Large Cell;Lymphoma, Follicular Large-Cell;Lymphoma, Follicular Mixed-Cell;Lymphoma, Follicular, Grade 1;Lymphoma, Follicular, Grade 2;Lymphoma, Follicular, Grade 3;Lymphoma, Follicular, Mixed Cell;Lymphoma, Follicular, Mixed Lymphocytic-Histiocytic;Lymphoma, Follicular, Mixed Small and Large Lymphoid;Lymphoma, Follicular, Small and Large Cleaved Cell;Lymphoma, Follicular, Small and Large Cleaved-Cell;Lymphoma, Giant Follicular;Lymphoma, Histiocytic, Nodular;Lymphoma, Large Cell, Follicular;Lymphoma, Large Lymphoid, Nodular;Lymphoma, Large-Cell, Follicular;Lymphoma, Lymphocytic, Nodular, Poorly Differentiated;Lymphoma, Lymphocytic, Nodular, Poorly-Differentiated;Lymphoma, Mixed-Cell, Follicular;Lymphoma, Nodular;Lymphoma, Nodular Histiocytic;Lymphoma, Nodular, Large Follicular Center Cell;Lymphoma, Nodular, Large Follicular Center-Cell;Lymphoma, Nodular, Mixed Lymphocytic Histiocytic;Lymphoma, Nodular, Mixed Lymphocytic-Histiocytic;Lymphoma, Nodular, Mixed Small and Large Cell;Lymphoma, Small Cleaved Cell, Follicular;Lymphoma, Small Cleaved-Cell, Follicular;Lymphoma, Small Follicular Center Cell;Lymphoma, Small Follicular Center-Cell;Lymphoma, Small Lymphoid, Follicular;Lymphomas Non-Hodgkin's B-Cell;Lymphomas, Follicular;Lymphomas, Follicular Large-Cell;Lymphomas, Follicular Mixed-Cell;Lymphomas, Giant Follicular;Lymphomas, Nodular;Lymphomas, Nodular Histiocytic;MIXED LYMPHOMA FOLLIC;Mixed Cell Lymphoma, Follicular;Mixed-Cell Lymphoma, Follicular;Mixed-Cell Lymphomas, Follicular;NODULAR LARGE FOLLIC CENTER LYMPHOMA;Nodular Histiocytic Lymphoma;Nodular Histiocytic Lymphomas;Nodular Large Follicular Center Cell Lymphoma;Nodular Large Follicular Center-Cell Lymphoma;Nodular Lymphoma;Nodular Lymphomas;Non-Hodgkin's B-Cell Lymphoma;Non-Hodgkin's Lymphoma B-Cell;SMALL CLEAVED LYMPHOMA FOLLIC;SMALL FOLLIC CENTER LYMPHOMA;Small Cleaved Cell Lymphoma, Follicular;Small Cleaved-Cell Lymphoma, Follicular;Small Follicular Center Cell Lymphoma;Small Follicular Center-Cell Lymphoma;peripheral B-cell neoplasm DOID:0050873;DOID:706;DOID:707;MSH:D008224;NCIt:C27907;NCIt:C3209;NCIt:C3457;SNOMEDCT:269476000;SNOMEDCT:40411000;SNOMEDCT:46744002;SNOMEDCT:55020008;SNOMEDCT:55150002 EFO_0000178 gastric carcinoma A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium. CA IN SITU STOMACH;Carcinoma in situ of stomach;carcinoma in situ of stomach (disorder);carcinoma in situ of stomach NOS (disorder);gastric cancer;gastric carcinoma in situ NCIt:C4911;SNOMEDCT:92756002;OMIM:613659 EFO_0000181 head and neck squamous cell carcinoma A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands. SCCHN;Squamous Cell Carcinoma of Head and Neck;squamous cell carcinoma of the head and neck DOID:5520;NCIt:C34447;OMIM:275355 EFO_0000182 hepatocellular carcinoma A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation. --2002;A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.;A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested.;Tumors or cancer of the LIVER. Adult Liver Cancer;Adult Liver Cancers;Cancer of Liver;Cancer of the Liver;Cancer, Adult Liver;Cancer, Hepatic;Cancer, Hepatocellular;Cancer, Liver;Cancers, Adult Liver;Cancers, Hepatic;Cancers, Hepatocellular;Cancers, Liver;Carcinoma of Liver Cells;Carcinoma of the Liver Cells;Carcinoma, Hepatocellular;Carcinomas, Hepatocellular;HCC;HEPATIC NEOPL;Hepatic Cancer;Hepatic Cancers;Hepatic Neoplasm;Hepatic Neoplasms;Hepatocellular Cancer;Hepatocellular Cancers;Hepatocellular Carcinomas;Hepatoma;Hepatomas;LIVER NEOPL;Liver Cancer;Liver Cancer, Adult;Liver Cancers;Liver Cancers, Adult;Liver Cell Cancer (Hepatocellular Carcinoma);Liver Cell Carcinoma;Liver Cell Carcinoma, Adult;Liver Neoplasm;Liver Neoplasms;NEOPL HEPATIC;NEOPL LIVER;Neoplasm, Hepatic;Neoplasm, Liver;Neoplasms, Hepatic;Neoplasms, Liver;Primary Carcinoma of Liver Cells;Primary Carcinoma of the Liver Cells DOID:684;MSH:D006528;NCIt:C3099;SNOMEDCT:25370001;OMIM:114550 EFO_0000200 plasma cell neoplasm A clonal proliferation of immunoglobulin-secreting plasma cells. This category includes plasma cell myeloma, plasma cell leukemia, plasmacytoma, monoclonal immunoglobulin deposition disease, and monoclonal gammopathy of undetermined significance. N/A DOID:6536;NCIt:C4665;SNOMEDCT:415111003 EFO_0000228 adenocarcinoma A malignant epithelial tumor with a glandular organization.;A type of carcinoma derived from glandular tissue or in which tumor cells form recognizable glandular structures. Adenocarcinoma, Basal Cell;Adenocarcinoma, Granular Cell;Adenocarcinoma, Oxyphilic;Adenocarcinoma, Tubular;Adenocarcinomas;Adenocarcinomas, Basal Cell;Adenocarcinomas, Granular Cell;Adenocarcinomas, Oxyphilic;Adenocarcinomas, Tubular;Adenoma, Malignant;Adenomas, Malignant;Basal Cell Adenocarcinoma;Basal Cell Adenocarcinomas;Carcinoma, Cribriform;Carcinoma, Granular Cell;Carcinoma, Tubular;Carcinomas, Cribriform;Carcinomas, Granular Cell;Carcinomas, Tubular;Cribriform Carcinoma;Cribriform Carcinomas;Granular Cell Adenocarcinoma;Granular Cell Adenocarcinomas;Granular Cell Carcinoma;Granular Cell Carcinomas;Malignant Adenoma;Malignant Adenomas;Oxyphilic Adenocarcinoma;Oxyphilic Adenocarcinomas;Tubular Adenocarcinoma;Tubular Adenocarcinomas;Tubular Carcinoma;Tubular Carcinomas DOID:299;MSH:D000230;NCIt:C2852;SNOMEDCT:35917007 EFO_0000249 Alzheimers disease 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 that results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting in late middle age and leads in advanced cases to a profound decline in cognitive and physical functioning and 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. It is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability.;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. AD;AD - Alzheimer's disease;ALZHEIMER DIS;ALZHEIMERS DIS;Alzheimer Dementia;Alzheimer Dementia, Presenile;Alzheimer Disease;Alzheimer Type Dementia;Alzheimer's;Alzheimer's Dementia;Alzheimer's disease (disorder);Alzheimer's disease, NOS;Alzheimers;Alzheimers Dementia;DAT - Dementia Alzheimer's type;Dementia in Alzheimer's disease;Dementia in Alzheimer's disease (disorder);Dementia in Alzheimer's disease, unspecified (disorder);Dementia of the Alzheimer's type;Dementia, Alzheimer Type;Dementia, Presenile;Dementia, Presenile Alzheimer;Disease, Alzheimer;Disease, Alzheimer's;Presenile Alzheimer Dementia;[X]Dementia in Alzheimer's disease;[X]Dementia in Alzheimer's disease (disorder);sporadic Alzheimer's disease DOID:10652;MSH:D000544;NCIt:C2866;NCIt:C34524;NCIt:C38778;SNOMEDCT:12348006;SNOMEDCT:15662003;SNOMEDCT:26929004;OMIM:104300;OMIM:502500;OMIM:605526;OMIM:608907;OMIM:615590;OMIM:615711 EFO_0000270 asthma A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors resulting in recurring periods of wheezing (a whistling sound while breathing), chest tightness, shortness of breath, mucus production and coughing. The symptoms appear due to a variety of triggers such as allergens, irritants, respiratory infections, weather changes, excercise, stress, reflux disease, medications, foods and emotional anxiety.;A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.;A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).;Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory. ASTHMA NOS W (AC) EXAC;Airway hyperreactivity;Asthma (disorder);Asthma NOS;Asthma NOS (disorder);Asthma unspecified;Asthma unspecified (disorder);Asthma, Bronchial;Asthma, unspecified;Asthma, unspecified type, with acute exacerbation;Asthma, unspecified type, without mention of status asthmaticus;Asthmas;Asthmatic;BHR - Bronchial hyperreactivity;Bronchial Hyperreactivities;Bronchial asthma;Bronchial hyperreactivity;Bronchial hyperresponsiveness;Bronchial hypersensitivity;DUST PNEUMONOPATHY NEC;Exercise induced asthma;Exercise-induced asthma;Exercise-induced asthma (disorder);Hyperreactive airway disease;Hyperreactive airways disease;Hyperreactivities, Bronchial;Hyperreactivity, Bronchial;Other forms of asthma;Pneumonopathy due to inhalation of other dust;Pneumopathy due to inhalation of other dust;Pneumopathy due to inhalation of other dust (disorder);Pneumopathy due to inhalation of other dust NOS;Pneumopathy due to inhalation of other dust NOS (disorder);chronic obstructive asthma;chronic obstructive asthma with acute exacerbation;chronic obstructive asthma with status asthmaticus DOID:2841;MSH:D001249;NCIt:C28397;SNOMEDCT:195967001;OMIM:600807;OMIM:607277;OMIM:608584;OMIM:611064;OMIM:611960 EFO_0000279 azoospermia 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. Azoospermia (finding);Count, Low Sperm;Counts, Low Sperm;Low Sperm Count;Low Sperm Counts;Oligospermia;Oligozoospermia;Sperm Count, Low;Sperm Counts, Low DOID:14227;MSH:D053713;NCIt:C80076;SNOMEDCT:425558002;SNOMEDCT:48188009 EFO_0000292 bladder carcinoma A carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas.;A carcinoma that arises_from tissues of the bladder.;A carcinoma that forms in tissues of the bladder.;Bladder carcinoma is a carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas. Bladder Cancer;Bladder neoplasms;Cancer of Bladder;Cancer of Urinary Bladder;Cancer of the Bladder;Cancer of the Urinary Bladder;Carcinoma of the Bladder;Carcinoma of the Urinary Bladder;Neoplasms, bladder;Urinary Bladder Cancer;Urinary Bladder Carcinoma;Urinary bladder neoplasms;carcinoma bladder;carcinoma of bladder;carcinoma of bladder (disorder);carcinoma of urinary bladder DOID:4007;MSH:D001749;NCIt:C4912;SNOMEDCT:255108000;OMIM:109800 EFO_0000305 breast carcinoma 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 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 derives_from breast tissue.;A carcinoma that originates from breast tissue.;Cancer of the human MAMMARY GLAND.;Tumor or cancer of the human MAMMARY GLAND.;Tumors or cancer of the human BREAST. BREAST NEOPL;Breast Cancer;Breast Neoplasm;Breast Neoplasms;Breast Tumor;Breast Tumors;CA - Carcinoma of breast;Cancer of Breast;Cancer of the Breast;Cancer, Breast;Carcinoma of breast (disorder);Carcinoma of breast NOS;Carcinoma of breast NOS (disorder);Carcinoma of the Breast;Carcinoma, Human Mammary;Carcinomas, Human Mammary;Human Mammary Carcinoma;Human Mammary Carcinomas;Human Mammary Neoplasm;Human Mammary Neoplasms;Mammary Carcinoma, Human;Mammary Carcinomas, Human;Mammary Neoplasm, Human;Mammary Neoplasms, Human;Mammary carcinoma;NEOPL BREAST;Neoplasm, Breast;Neoplasm, Human Mammary;Neoplasms, Breast;Neoplasms, Human Mammary;Tumor, Breast;Tumors, Breast;carcinoma OF breast DOID:3459;MSH:D001943;NCIt:C4872;SNOMEDCT:254838004;OMIM:114480;OMIM:615554 EFO_0000311 cancer A malignant neoplasm in which new abnormal tissue grow by excessive cellular division and proliferation more rapidly than normal and continues to grow after the stimuli that initiated the new growth cease. Malignant Neoplasm;malignant neoplasia;malignant tumor;malignant tumour DOID:162;NCIt:C9305 EFO_0000313 carcinoma A type of malignant cancer that arises from epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. N/A DOID:305;MSH:D002277;NCIt:C2916;SNOMEDCT:68453008 EFO_0000326 central nervous system cancer A primary or metastatic malignant neoplasm involving the brain or spinal cord. Representative examples include anaplastic astrocytoma, glioblastoma, anaplastic (malignant) meningioma, lymphoma, and metastatic carcinoma from another anatomic site.;Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas ( ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas ( OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle (MeSH). CNS Cancer;CNS Malignant Neoplasms;CNS Neoplasms, Malignant;Cancer of CNS;Cancer of Central Nervous System;Cancer of the CNS;Cancer of the Central Nervous System;Central Nervous System Neoplasms, Malignant;Glial Cell Tumor;Glioma;Malignant CNS Neoplasm;Malignant CNS Neoplasms;Malignant CNS Tumor;Malignant Central Nervous System Neoplasm;Malignant Central Nervous System Tumor;Malignant Neoplasm of CNS;Malignant Neoplasm of Central Nervous System;Malignant Neoplasm of the CNS;Malignant Neoplasm of the Central Nervous System;Malignant Tumor of CNS;Malignant Tumor of Central Nervous System;Malignant Tumor of the CNS;Malignant Tumor of the Central Nervous System DOID:3620;MSH:D005910;NCIt:C3059;NCIt:C4627;SNOMEDCT:115240006;SNOMEDCT:372062007;SNOMEDCT:393564001;OMIM:616568 EFO_0000349 clear cell renal carcinoma A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common.;A renal cell carcinoma that is the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney.;Clear cell carcinoma of kidney is a renal cell carcinoma described as the most common type of renal cell carcinoma. The cancerous cells appear very pale or clear when examined under microscope. This cancer can be effectively treated with surgery if the tumor is confined to the kidney. Clear Cell Adenocarcinoma of Kidney;Clear Cell Adenocarcinoma of the Kidney;Clear Cell Adenocarcinoma, Kidney;Clear Cell Carcinoma of the Kidney;Clear Cell Renal Cell Carcinoma;Clear cell carcinoma of kidney (disorder);Conventional (Clear Cell) Renal Cell Adenocarcinoma;Conventional Renal Cell Carcinoma;Grawitz Tumor;Hypernephroma;Kidney Clear Cell Adenocarcinoma;Kidney Clear Cell Carcinoma;Renal Clear Cell Adenocarcinoma;Renal Clear Cell Carcinoma;clear cell carcinoma of kidney;conventional (Clear cell) renal cell carcinoma DOID:4467;NCIt:C4033;SNOMEDCT:188251003;SNOMEDCT:254915003;OMIM:144700 EFO_0000365 colorectal adenocarcinoma A malignant tumor usually arising from the epithelium lining the large intestinal mucosa. Colon carcinoma is one of the most common malignancies in both males and females, and is especially common in North America and Europe. Grossly, most colon carcinomas are polypoid or ulcerating lesions. Microscopically, adenocarcinoma is the most frequently seen morphologic subtype. Prognosis depends on the stage of the disease (depth of invasion, metastasis to regional/distal lymph nodes or other anatomic sites). -- 2004;An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well differentiated, moderately, and poorly differentiated. Morphologic variants include the mucinous adenocarcinoma and signet-ring adenocarcinoma. Lymphatic or hematogenous spread can occur early in the process and lead to systemic disease.;Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI. Carcinoma of the Colon;Carcinoma, Colorectal;Carcinomas, Colorectal;Colon Cancer;Colonic Carcinoma;Colonic adenocarcinoma;Colorectal Carcinoma;Colorectal Carcinomas;Colorectal Tumor;Colorectal Tumors;Tumor, Colorectal;Tumors, Colorectal;adenocarcinoma of colon;adenocarcinoma of the colon;carcinoma of colon;carcinoma of colon (disorder);colon adenocarcinoma;colon carcinoma;rectal carcinoma DOID:0050861;NCIt:C5105;SNOMEDCT:269533000;OMIM:114500 EFO_0000512 reproductive system disease any diease of the reproductive system Disorder of reproductive system;Disorder of reproductive system (disorder);Non-neoplastic Reproductive system disease;genital system disease DOID:15;SNOMEDCT:362968007 EFO_0000514 germ cell tumor A cancer that is derived_from germ cells.;Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS. Cancer, Embryonal;Cancer, Embryonal and Mixed;Cancer, Germ Cell;Cancers, Embryonal;Cancers, Germ Cell;EMBRYONAL NEOPL;Embryonal Cancer;Embryonal Cancers;Embryonal Neoplasm;Embryonal Neoplasms;GERM CELL EMBRYONAL NEOPL;GERM CELL EMBRYONIC NEOPL;GERM CELL NEOPL;Germ Cell Cancer;Germ Cell Cancers;Germ Cell Neoplasms;Germ Cell Tumors;Germ Cell and Embryonal Neoplasms;Germ Cell and Embryonic Neoplasms;Germ cell neoplasm;Germ cell neoplasm (morphologic abnormality);Germ cell neoplasm NOS (morphologic abnormality);Germ cell neoplasms (morphologic abnormality);Germ cell tumor (disorder);Germ cell tumor, NOS;Germ cell tumour;Germinoma;Germinoma (morphologic abnormality);NEOPL EMBRYONAL;NEOPL GERM CELL;NEOPL GERM CELL EMBRYONAL;NEOPL GERM CELL EMBRYONIC;Neoplasm of Germ Cell;Neoplasm of the Germ Cell;Neoplasm, Embryonal;Neoplasms, Embryonal;Neoplasms, Embryonal and Mixed;Neoplasms, Germ Cell;Neoplasms, Germ Cell and Embryonal;Neoplasms, Germ Cell and Embryonic;Tumor of Germ Cell;Tumor of the Germ Cell;Tumor, Germ Cell;Tumors, Germ Cell;[M]Germ cell neoplasm NOS;[M]Germ cell neoplasm NOS (morphologic abnormality);[M]Germ cell neoplasms;[M]Germ cell neoplasms (morphologic abnormality);malignant tumor of the germ cell DOID:2994;DOID:3304;DOID:688;MSH:D009373;MSH:D018237;NCIt:C3708;SNOMEDCT:402878003 EFO_0000540 immune system disease A group of non-neoplastic and neoplastic disorders resulting from the deregulation and/or deficiency of immune system functions. It includes autoimmune disorders (e.g., lupus erythematosus, dermatomyositis, rheumatoid arthritis), congenital and acquired immunodeficiency syndromes including the acquired immune deficiency syndrome (AIDS), and neoplasms (e.g., lymphomas and malignancies secondary to transplantation.) AUTOIMMUNE DISEASE NEC;Autoimmune disease, not elsewhere classified;DEFIC CELL IMMUNITY NOS;Deficiency of cell-mediated immunity;Disorder of the immune mechanism NOS;Disorder of the immune mechanism NOS (disorder);Disorders involving the immune mechanism;IMMUNDEF T-CELL DEF NOS;IMMUNE MECHANISM DIS NEC;IMMUNE MECHANISM DIS NOS;Immune System and Related Disorders;Immunodeficiency and Immunosuppression Disorders;Immunodeficiency with predominant T-cell defect, unspecified;Other deficiency of cell-mediated immunity;Other specified disorders involving the immune mechanism;Other specified disorders of the immune mechanism;Other specified disorders of the immune mechanism (disorder);Unspecified disorder of immune mechanism;[X]Disorder involving the immune mechanism, unspecified;[X]Disorder involving the immune mechanism, unspecified (disorder);autoimmune diseases DOID:2914;MSH:D001327;NCIt:C27351;OMIM:109100 EFO_0000545 infertility Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility. Infertile;Infertile (finding);Reproductive Sterility;Sterility;Sterility, Reproductive;sterile DOID:5223;MSH:D007246;NCIt:C3836;SNOMEDCT:15296000;SNOMEDCT:261029002;SNOMEDCT:8619003 EFO_0000565 leukemia A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells.;A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood. Leukemias are classified as acute or chronic based on the degree of cellular differentiation and the predominant cell type present. Leukemia is usually associated with anemia, fever, hemorrhagic episodes, and splenomegaly. Common leukemias include acute myeloid leukemia, chronic myelogenous leukemia, acute lymphoblastic or precursor lymphoblastic leukemia, and chronic lymphocytic leukemia. Treatment is vital to patient survival; untreated, the natural course of acute leukemias is normally measured in weeks or months, while that of chronic leukemias is more often measured in months or years.;A progressive, malignant disease of the blood-forming organs, characterized by distorted proliferation and development of leukocytes and their precursors in the blood and bone marrow. Leukemias were originally termed acute or chronic based on life expectancy but now are classified according to cellular maturity. Acute leukemias consist of predominately immature cells; chronic leukemias are composed of more mature cells. (From The Merck Manual, 2006) Aleukaemic leukaemia [obs];Aleukemic leukemia [obs];Blood (Leukemia);Chronic leukaemia [obs];Chronic leukemia [obs];LEUK NOS W/O ACHV RMSN;LEUKEMIA NOS W/O REMSION;Leukaemia;Leukaemia morphology;Leukaemia of unspecified cell type;Leukaemia, NOS;Leukaemia, NOS, without mention of remission;Leukaemia, disease;Leukaemia, no ICD-O subtype;Leukemia NOS (disorder);Leukemia morphology;Leukemia of unspecified cell type;Leukemia of unspecified cell type (disorder);Leukemia, NOS, without mention of remission;Leukemia, disease;Leukemia, disease (disorder);Leukemia, morphology (morphologic abnormality);Leukemia, no ICD-O subtype;Leukemia, no ICD-O subtype (morphologic abnormality);Leukemias;Leukemias, General;OT LEU UN CL WO ACH RMSN;OTH LEUK UNS CL W RMSON;OTH LEUK UNS CL W/O RMSN;OTH LEUK W/O ACHV RMSN;OTH SPF LEUK W REMSION;OTH SPF LEUK W/O REMSION;Other leukaemia of unspecified cell type;Other leukemia of unspecified cell type;Other leukemia of unspecified cell type (disorder);Other leukemia of unspecified cell type in remission;Other leukemia of unspecified cell type without mention of having achieved remission;Other leukemia of unspecified cell type without mention of remission;Other specified leukaemia;Other specified leukaemia NOS;Other specified leukemia;Other specified leukemia (disorder);Other specified leukemia NOS;Other specified leukemia NOS (disorder);Other specified leukemia in remission;Other specified leukemia without mention of having achieved remission;Other specified leukemia without mention of remission;Subacute leukaemia [obs];Subacute leukemia [obs];Unspecified leukemia;Unspecified leukemia without mention of having achieved remission;Unspecified leukemia without mention of remission;[M]Leukaemia NOS;[M]Leukaemia unspecified, NOS;[M]Leukaemias unspecified;[M]Leukemia NOS;[M]Leukemia unspecified, NOS;[M]Leukemias unspecified;[M]leukemia NOS (morphologic abnormality);[M]leukemia unspecified, NOS (morphologic abnormality);[M]leukemias unspecified (morphologic abnormality);chronic leukaemia NOS;chronic leukemia;chronic leukemia - category (morphologic abnormality);chronic leukemia NOS;chronic leukemia NOS (disorder);chronic leukemia of unspecified cell type;chronic leukemia, disease (disorder) DOID:1240;MSH:D007938;NCIt:C3161;SNOMEDCT:87163000;SNOMEDCT:93143009 EFO_0000571 lung adenocarcinoma A carcinoma characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor. Adenocarcinoma of Lung;Adenocarcinoma of the Lung;adenocarcinoma of lung (disorder) DOID:3910;MSH:C538231;NCIt:C3512;SNOMEDCT:254626006;OMIM:211980 EFO_0000616 neoplasm A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias. NEOPL;NEOPLASMS BENIGN, MALIGNANT AND UNSPECIFIED (INCL CYSTS AND POLYPS);Neoplasia;Neoplasms;Neoplastic Growth;Tumor;Tumors;tumour;tumours MSH:D009369;NCIt:C3262;SNOMEDCT:108369006 EFO_0000618 nervous system disease a general class of medical conditions affecting the nervous system. Central Nervous System Disease;Central Nervous System Disorder DOID:863;NCIt:C2934 EFO_0000621 neuroblastoma A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH).;A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51);A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation. (neuroblastoma NOS) or (sympathicoblastoma);Central neuroblastoma;NB - Neuroblastoma;Neuroblastoma, NOS;Neuroblastomas;Sympathicoblastoma;[M]Neuroblastoma NOS;[M]Neuroblastoma NOS (morphologic abnormality);neuroblastoma (Schwannian Stroma-Poor);neuroblastoma (morphologic abnormality);neuroblastoma NOS (morphologic abnormality) DOID:769;MSH:D009447;NCIt:C3270;SNOMEDCT:432328008;SNOMEDCT:87364003;OMIM:256700;OMIM:613013;OMIM:613014 EFO_0000681 renal cell carcinoma A carcinoma arising from the renal parenchyma. The incidence of renal cell carcinoma has increased by 35% from 1973 to 1991. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Diagnostic procedures include: ultra sound, intravenous pyelography and computed tomography (CT). Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.;A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. Adenocarcinoma of Kidney;Adenocarcinoma of the Kidney;Adenocarcinoma, Renal Cell;Adenocarcinomas, Renal Cell;Cancer, Renal Cell;Cancers, Renal Cell;Carcinoma of kidney;Carcinoma, Hypernephroid;Carcinoma, Nephroid;Carcinoma, Renal Cell;Carcinomas, Hypernephroid;Carcinomas, Nephroid;Carcinomas, Renal Cell;Grawitz Tumor;Grawitz tumour;Hypernephroid Carcinoma;Hypernephroid Carcinomas;Hypernephroma;Hypernephroma (disorder);Hypernephromas;Kidney Adenocarcinoma;Nephroid Carcinoma;Nephroid Carcinomas;RCC;Renal Cell Adenocarcinoma;Renal Cell Adenocarcinomas;Renal Cell Cancers;Renal Cell Carcinoma;Renal Cell Carcinoma, Stage Unspecified;Renal Cell Carcinomas;Renal Collecting Duct Carcinoma;Renal cell carcinoma (morphologic abnormality);Renal cell carcinoma - morphology;Sarcomatoid Renal Cell Carcinoma;Tumor, Grawitz;renal cell cancer DOID:4450;MSH:D002292;NCIt:C9385;SNOMEDCT:41607009;SNOMEDCT:702391001;OMIM:144700;OMIM:300854 EFO_0000684 respiratory system disease A body system disease that occurs in different organs functioning in respiration and consisting especially of the nose, nasal passages, nasopharynx, larynx, trachea, bronchi, and lungs. ALVEOL PNEUMONOPATHY NEC;ALVEOL PNEUMONOPATHY NOS;CHR PUL MANIF D/T RADIAT;Chronic and other pulmonary manifestations due to radiation;DISEASES OF THE RESPIRATORY SYSTEM;Disease of respiratory system;Disease of respiratory system (disorder);Disease of respiratory system, NOS;Disorder of respiratory system;Disorder of respiratory system (disorder);INORG DUST PNEUMOCON NEC;LUNG INVOLV IN OTH DIS;Lung involvement in conditions classified elsewhere;Lung involvement in other diseases classified elsewhere;MEDIASTINUM DISEASE NEC;Other alveolar and parietoalveolar pneumonopathy;Other diseases of mediastinum, not elsewhere classified;Other diseases of respiratory system;Other diseases of respiratory system NOS;Other diseases of respiratory system NOS (disorder);Other diseases of respiratory system, not elsewhere classified;Other diseases of trachea and bronchus, not elsewhere classified;Other respiratory system diseases;Other respiratory system diseases (disorder);Other respiratory system diseases NOS;Other respiratory system diseases NOS (disorder);Other specified alveolar and parietoalveolar pneumonopathies;PNEUMOCONIOSES AND OTHER LUNG DISEASES DUE TO EXTERNAL AGENTS;Pneumoconiosis due to other inorganic dust;RESP COND: EXT AGENT NEC;RESP COND: EXT AGENT NOS;RESP SYSTEM DISEASE NEC;RESP SYSTEM DISEASE NOS;Respiratory System Disorder;Respiratory conditions due to other and unspecified external agents;Respiratory conditions due to other specified external agents;Respiratory conditions due to unspecified external agent;Respiratory disease;Respiratory disorder;Respiratory disorder, NOS;Respiratory system diseases NOS;Respiratory system diseases NOS (disorder);Unspecified alveolar and parietoalveolar pneumonopathy;Unspecified disease of respiratory system;[X]Chronic and other pulmonary manifestations due to radiation;[X]Chronic and other pulmonary manifestations due to radiation (disorder);[X]Other diseases of the respiratory system;[X]Other diseases of the respiratory system (disorder);[X]Respiratory conditions due to other specified external agents;[X]Respiratory conditions due to other specified external agents (disorder);[X]Respiratory conditions due to unspecified external agent;[X]Respiratory conditions due to unspecified external agent (disorder) DOID:1579;NCIt:C26871;SNOMEDCT:50043002 EFO_0000685 rheumatoid arthritis A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated.;An arthritis that results_from an autoimmune disease which attacks healthy cells and tissue located_in joint.;Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints. Arthritis or polyarthritis, rheumatic;Arthritis, Rheumatoid;Chronic rheumatic arthritis;Proliferative arthritis;RA - Rheumatoid arthritis;RhA - Rheumatoid arthritis;Rheumatic gout;Rheumatoid arthritis (disorder);Rheumatoid arthritis NOS;Rheumatoid arthritis NOS (disorder);Rheumatoid disease;atrophic Arthritis DOID:7148;MSH:D001172;NCIt:C2884;SNOMEDCT:69896004;OMIM:180300;OMIM:604302 EFO_0000707 squamous cell carcinoma A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma.;A carcinoma derived from stratified squamous epithelium. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed) Carcinoma, Epidermoid;Carcinoma, Planocellular;Carcinoma, Squamous;Carcinoma, Squamous Cell;Carcinomas, Epidermoid;Carcinomas, Planocellular;Carcinomas, Squamous;Carcinomas, Squamous Cell;Epidermoid Carcinoma;Epidermoid Carcinomas;Epidermoid Cell Cancer;Epidermoid carcinoma, NOS;Malignant Epidermoid Cell Neoplasm;Malignant Epidermoid Cell Tumor;Malignant Squamous Cell Neoplasm;Malignant Squamous Cell Tumor;Planocellular Carcinoma;Planocellular Carcinomas;SCC - Squamous cell carcinoma;Squamous Carcinomas;Squamous Cell Cancer;Squamous Cell Carcinomas;Squamous cell carcinoma (disorder);Squamous cell carcinoma (morphologic abnormality);Squamous cell carcinoma, NOS;Squamous cell carcinoma, no ICD-O subtype;Squamous cell carcinoma, no ICD-O subtype (morphologic abnormality);Squamous cell epithelioma;[M]Squamous cell carcinoma NOS;[M]Squamous cell carcinoma NOS (morphologic abnormality);skin squamous cell carcinoma;squamous carcinoma;squamous cell carcinoma NOS (morphologic abnormality) DOID:1749;MSH:D002294;NCIt:C2929;SNOMEDCT:28899001;SNOMEDCT:402815007 EFO_0000708 squamous cell lung carcinoma A carcinoma arising from malignant squamous bronchial epithelial cells and characterized by the presence of keratinization and/or intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma. Epidermoid Cell Carcinoma of Lung;Epidermoid Cell Lung Carcinoma;Epidermoid carcinoma of lung;Epidermoid cell carcinoma of the lung;SCC - Squamous cell carcinoma of lung;Squamous Cell Carcinoma of the Lung;Squamous cell carcinoma of lung;Squamous cell carcinoma of lung (disorder);lung squamous cell carcinoma DOID:3907;NCIt:C3493;SNOMEDCT:254634000 EFO_0001071 lung carcinoma A carcinoma originating in the lung. Lung carcinomas usually arise from the epithelium that lines the bronchial tree (bronchogenic carcinomas), and are classified as small cell or non-small cell carcinomas. Non-small cell lung carcinomas are usually adenocarcinomas, squamous cell carcinomas, or large cell carcinomas. Metastatic carcinomas to the lung are also common, and can be difficult to distinguish from primary tumors.;A carcinoma that is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis.;Tumors or cancer of the LUNG. Cancer of the Lung;Cancer, Lung;Cancer, Pulmonary;Cancers, Lung;Cancers, Pulmonary;Carcinoma of the Lung;LUNG NEOPL;Lung Cancer;Lung Cancers;Lung Neoplasm;Lung Neoplasms;NEOPL LUNG;NEOPL PULM;Neoplasm, Lung;Neoplasm, Pulmonary;Neoplasms, Lung;Neoplasms, Pulmonary;PULM NEOPL;Pulmonary Cancer;Pulmonary Cancers;Pulmonary Neoplasm;Pulmonary Neoplasms;cancer of lung;carcinoma OF LUNG DOID:3905;MSH:D008175;NCIt:C4878;SNOMEDCT:448993007;OMIM:211980 EFO_0001378 multiple myeloma A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001);A malignancy of mature PLASMA CELLS engaging in monoclonal immunoglobulin production. It is characterized by hyperglobulinemia, excess Bence-Jones proteins (free monoclonal IMMUNOGLOBULIN LIGHT CHAINS) in the urine, skeletal destruction, bone pain, and fractures. Other features include ANEMIA; HYPERCALCEMIA; and RENAL INSUFFICIENCY.;A myeloma that is located_in the plasma cells in bone marrow. Cell Myeloma, Plasma;Cell Myelomas, Plasma;Disease, Kahler;Kahler disease;Kahler's disease;MULT MYE W/O ACHV RMSON;MULT MYELM W/O REMISSION;Multiple Myelomas;Multiple myeloma (clinical);Multiple myeloma (disorder);Multiple myeloma without mention of having achieved remission;Multiple myeloma without mention of remission;Multiple myeloma, morphology (morphologic abnormality);Multiple myeloma, no ICD-O subtype;Multiple myeloma, no ICD-O subtype (morphologic abnormality);Myeloma;Myeloma Multiple;Myeloma, Multiple;Myeloma, NOS;Myeloma, Plasma Cell;Myeloma, Plasma-Cell;Myeloma-Multiple;Myeloma-Multiples;Myelomas, Multiple;Myelomas, Plasma Cell;Myelomas, Plasma-Cell;Myelomatoses;Myelomatosis;Plasma Cell Myeloma;Plasma Cell Myelomas;Plasma-Cell Myeloma;Plasma-Cell Myelomas;Plasmacytic myeloma;[M]Plasma cell myeloma DOID:9538;MSH:D009101;NCIt:C3242;SNOMEDCT:109989006;SNOMEDCT:55921005 EFO_0001642 lymphoid neoplasm Malignant lymphoma composed of large B lymphoid cells whose nuclear size can exceed normal macrophage nuclei, or more than twice the size of a normal lymphocyte. The pattern is predominantly diffuse. Most of these lymphomas represent the malignant counterpart of B-lymphocytes at midstage in the process of differentiation. DIFFUSE LARGE LYMPHOMA;Diffuse Histiocytic Lymphoma;Diffuse Histiocytic Lymphomas;Diffuse Large Cell Lymphoma;Diffuse Large-Cell Lymphoma;Diffuse Large-Cell Lymphomas;Diffuse, Large B-Cell, Lymphoma;Histiocytic Lymphoma;Histiocytic Lymphoma, Diffuse;Histiocytic Lymphomas;Histiocytic Lymphomas, Diffuse;LARGE LYMPHOMA;LARGE LYMPHOMA DIFFUSE;LYMPHOMA DIFFUSE LARGE;LYMPHOMA LARGE;LYMPHOMA LARGE DIFFUSE;Large Cell Lymphoma;Large Cell Lymphoma, Diffuse;Large Lymphoid Lymphoma, Diffuse;Large-Cell Lymphoma;Large-Cell Lymphoma, Diffuse;Large-Cell Lymphomas;Large-Cell Lymphomas, Diffuse;Lymphocytic Neoplasm;Lymphoma, Diffuse Histiocytic;Lymphoma, Diffuse Large Cell;Lymphoma, Diffuse Large-Cell;Lymphoma, Histiocytic;Lymphoma, Histiocytic, Diffuse;Lymphoma, Large B-Cell, Diffuse;Lymphoma, Large Cell;Lymphoma, Large Cell, Diffuse;Lymphoma, Large Lymphoid, Diffuse;Lymphoma, Large-Cell;Lymphoma, Large-Cell, Diffuse;Lymphomas, Diffuse Histiocytic;Lymphomas, Diffuse Large-Cell;Lymphomas, Histiocytic;Lymphomas, Large-Cell;blood cancer;hematological cancer;hematological neoplasm MSH:D016403;NCIt:C7065;SNOMEDCT:414628006 EFO_0002461 skeletal system disease Any disease which affects part of the skeletal system. N/A N/A EFO_0002506 osteoarthritis A progressive, degenerative joint disease, the most common form of arthritis, especially in older persons. The disease is thought to result not from the aging process but from biochemical changes and biomechanical stresses affecting articular cartilage. In the foreign literature it is often called osteoarthrosis deformans. Arthritides, Degenerative;Arthritis, Degenerative;Degenerative Arthritides;Degenerative Arthritis;OA;Osteoarthritides;Osteoarthroses;Osteoarthrosis;Osteoarthrosis Deformans DOID:8398;MSH:D010003;NCIt:C3293;SNOMEDCT:396275006;OMIM:140600;OMIM:165720;OMIM:607850;OMIM:612400 EFO_0002618 pancreatic carcinoma A carcinoma that is located_in cells found in the tissues of the pancreas.;A carcinoma that is manifested in cells found in the tissues of the pancreas.;Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA). Cancer of Pancreas;Cancer of the Pancreas;Cancer, Pancreas;Cancer, Pancreatic;Cancers, Pancreas;Cancers, Pancreatic;Exocrine pancreas carcinoma;NEOPL PANCREATIC;Neoplasm, Pancreas;Neoplasm, Pancreatic;Neoplasms, Pancreas;Neoplasms, Pancreatic;PANCREAS NEOPL;PANCREATIC NEOPL;Pancreas Cancer;Pancreas Cancers;Pancreas Neoplasm;Pancreas Neoplasms;Pancreatic Cancer;Pancreatic Cancers;Pancreatic Neoplasm;Pancreatic Neoplasms;carcinoma of pancreas;carcinoma of pancreas (disorder);exocrine cancer;pancreatic adenocarcinoma DOID:4905;MSH:C562463;NCIt:C3850;SNOMEDCT:372142002;OMIM:260350 EFO_0002890 renal carcinoma A carcinoma arising from the epithelium of the renal parenchyma (renal cell carcinoma) or the renal pelvis (renal pelvis carcinoma). The vast majority of renal cell carcinomas are adenocarcinomas. The vast majority of renal pelvis carcinomas are transitional cell carcinomas. Renal carcinomas usually affect middle aged and elderly adults. Hematuria, abdominal pain, and a palpable mass are common symptoms. -- 2004;A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the KIDNEYS. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. Carcinoma, Hypernephroid;Carcinoma, Nephroid;Carcinomas, Hypernephroid;Carcinomas, Nephroid;Grawitz Tumor;Hypernephroid Carcinoma;Hypernephroid Carcinomas;Hypernephroma;Hypernephromas;Kidney Cancer;Kidney Carcinoma;Nephroid Carcinoma;Nephroid Carcinomas;Renal Cancer;Renal Collecting Duct Carcinoma;Tumor, Grawitz DOID:4451;NCIt:C9384;SNOMEDCT:188251003;OMIM:144700 EFO_0003060 non-small cell lung carcinoma A heterogeneous aggregate of at least three distinct histological types of lung cancer, including SQUAMOUS CELL CARCINOMA; ADENOCARCINOMA; and LARGE CELL CARCINOMA. They are dealt with collectively because of their shared treatment strategy. Carcinoma, Non Small Cell Lung;Carcinoma, Non-Small Cell Lung;Carcinoma, Non-Small-Cell Lung;Carcinomas, Non-Small-Cell Lung;Lung Carcinoma, Non-Small-Cell;Lung Carcinomas, Non-Small-Cell;NONSMALL CELL LUNG CARCINOMA;NSCLC;Non Small Cell Lung Carcinoma;Non-Small Cell Lung Cancer;Non-Small Cell Lung Carcinoma;Non-Small-Cell Lung Carcinoma;Non-Small-Cell Lung Carcinomas;Non-small cell lung cancer (disorder) DOID:3908;MSH:D002289;NCIt:C2926;SNOMEDCT:254637007;OMIM:211980 EFO_0003101 testicular seminoma A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma. Seminoma of Testis;Seminoma of the Testis;Testicular Seminoma Pure NCIt:C7328;SNOMEDCT:255107005 EFO_0003897 stomach neoplasm Tumors or cancer of the STOMACH. Cancer of Stomach;Cancer of the Stomach;Cancer, Gastric;Cancer, Stomach;Cancers, Gastric;Cancers, Stomach;GASTRIC NEOPL;Gastric Cancer;Gastric Cancers;Gastric Neoplasm;Gastric Neoplasms;NEOPL GASTRIC;NEOPL STOMACH;Neoplasm, Gastric;Neoplasm, Stomach;Neoplasms, Gastric;Neoplasms, Stomach;STOMACH NEOPL;Stomach Cancer;Stomach Cancers;Stomach Neoplasms DOID:10534;MSH:D013274;NCIt:C3387 EFO_0004142 colorectal neoplasm uncontrolled cell growth (neoplasia) occurring in the colon, rectum or vermiform appendix. COLORECTAL NEOPL;Colorectal Neoplasm;Colorectal Neoplasms;NEOPL COLORECTAL;Neoplasm, Colorectal;Neoplasms, Colorectal MSH:D015179;NCIt:C2956;OMIM:114500 EFO_0004248 male infertility The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility. infertility, male;male sterility;sterility, male DOID:12336;MSH:D007248;SNOMEDCT:2904007 EFO_0004281 testicular neoplasm Tumors or cancer of the TESTIS. Germ cell tumors ( GERMINOMA) of the testis constitute 95% of all testicular neoplasms. testicular cancer;testicular germ cell cancer;testicular germ cell tumor;testicular neoplasms DOID:2998;DOID:5557;MSH:C563236;MSH:D013736;NCIt:C3404 EFO_0004770 ovarian reserve Ovarian reserve is a term that is used to determine the capacity of the ovary to provide oocytes that are capable of fertilization resulting in a healthy and successful pregnancy. Ovarian reserve is correlated with levels of FSH and anti-Mullerian hormones. N/A MSH:D065851 EFO_0005140 autoimmune disease Autoimmune disease or disorder is a disease characterized by an immune response of an organism against parts of itself causing pathology e.g. Graves' disease. N/A NCIt:C2889;SNOMEDCT:85828009;OMIM:613551;OMIM:615952;OMIM:617006 EFO_0005543 glioma A malignant tumor of neuroglial tissue. This term may be used to describe one of a number of primary neoplasms of the brain and spinal cord, including astrocytomas, ependymomas, neurocytomas, etc. Malignant gliomas are the most common primary tumors of the brain. GLIOMA, MALIGNANT;Malignant Glial Neoplasm;Malignant Glial Tumor;Malignant Glioma;Malignant Neuroglial Neoplasm;Malignant Neuroglial Tumor;Triple-Negative Breast Carcinoma;brain glioma DOID:0060108;NCIt:C4822;NCIt:C71732;OMIM:613028;OMIM:613029 EFO_0005755 rheumatic disease A hypersensitivity reaction type II disease that involves inflammation or pain in the muscles, joints, or fibrous tissue. rheumatic disorder;rheumatism DOID:1575;SNOMEDCT:396332003 EFO_0005842 colorectal cancer A large intestine cancer that is located in the colon and/or located in the rectum. Cancer, Colorectal;Cancers, Colorectal;Colorectal Cancer;Colorectal Cancers;Malignant Colorectal Neoplasm DOID:9256;NCIt:C4978;OMIM:608812;OMIM:612229;OMIM:612591;OMIM:615083 EFO_0005856 arthritis Arthritis (from Greek arthro-, joint + -itis, inflammation; plural: arthritides) is a form of joint disorder that involves inflammation of one or more joints. arthritides DOID:848;MSH:D001168;NCIt:C2883;SNOMEDCT:3723001 EFO_1000566 Testicular Germ Cell Tumor A germ cell tumor arising from the testis. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor. N/A NCIt:C8591;OMIM:273300 EFO_1001422 Sertoli Cell-Only Syndrome A type of male infertility in which no germ cells are visible in any of the biopsied SEMINIFEROUS TUBULES (type I) or in which germ cells are present in a minority of tubules (type II). Clinical features include AZOOSPERMIA, normal VIRILIZATION, and normal chromosomal complement. spermatogenic failure, x-linked, 1;x-linked spermatogenic failture type 1 DOID:0050457;MSH:D054331;OMIM:305700 EFO_1001950 colon carcinoma A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. Carcinoma of Colon;Colon Cancer;Colonic Carcinoma NCIt:C4910 EFO_1001951 colorectal carcinoma A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. Cancer of Large Bowel;Cancer of Large Intestine;Carcinoma of Large Bowel;Carcinoma of Large Intestine;Colorectal Cancer;Large Bowel Cancer;Large Bowel Carcinoma;Large Intestine Cancer;Large Intestine Carcinoma NCIt:C2955 EFO_1002018 bronchial disease a respiratory system disease that has its manifestation in the bronchus bronchial disorder DOID:1176 UBERON_0000922 embryo An embryo is a multicellular diploid eukaryote in its earliest stage of development, from the time of first cell division until birth, hatching, or germination.;Anatomical entity that comprises the organism in the early stages of growth and differentiation that are characterized by cleavage, the laying down of fundamental tissues, and the formation of primitive organs and organ systems. For example, for mammals, the process would begin with zygote formation and end with birth. For insects, the process would begin at zygote formation and end with larval hatching. For plant zygotic embryos, this would be from zygote formation to the end of seed dormancy. For plant vegetative embryos, this would be from the initial determination of the cell or group of cells to form an embryo until the point when the embryo becomes independent of the parent plant. Embryologic;Entire embryo;developing organism;developmental tissue;embryo early (growth) stage;embryo stage;embryonic organism MESH:A16.254;NCIt:C28147;SNOMEDCT:57991002;UMLS:C0013935