Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
mediastinal cancer	EFO_0007362	[A malignant neoplasm involving the mediastinum]
extragonadal germ cell cancer	MONDO_0003113	[A malignant germ cell tumor that develops as a primary tumor in an anatomic site other than the testis or ovary.]
mediastinal germ cell tumor	MONDO_0021067	[A germ cell tumor that arises from the mediastinum. Representative examples include seminoma, embryonal carcinoma, yolk sac tumor, teratoma, and mixed germ cell tumor.]
Mediastinal Neuroblastoma	EFO_1000367	[A neuroblastoma arising from the mediastinum.]
mediastinal neural neoplasm	MONDO_0003098	[A neurogenic tumor that arises from the mediastinum. Neural tumors are the most common tumors that arise from the posterior mediastinum. Representative examples include Schwannoma, neurofibroma, and neuroblastoma.]
neuroblastoma	EFO_0000621	[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 (NB) is the most common solid, extracranial childhood tumor. It is an aggressive pediatric cancer that originates from neural crest tissues of the sympathetic nervous system., 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)]
Mast Cell Sarcoma	EFO_1000364	[A rare entity characterized by localized but destructive growth of a tumor consisting of highly atypical, immature mast cells.(WHO, 2001)]
Maxillary Sinus Adenoid Cystic Carcinoma	EFO_1000365	[An adenoid cystic carcinoma that arises from the maxillary sinus. It usually has an aggressive clinical course.]
maxillary sinus carcinoma	MONDO_0001748	[A carcinoma that arises from the maxillary sinus. Representative examples include squamous cell carcinoma, adenocarcinoma, and adenoid cystic carcinoma.]
Paranasal Sinus Adenoid Cystic Carcinoma	EFO_1000454	[A rare adenoid cystic carcinoma that arises from the paranasal sinuses. It usually has an aggressive clinical course characterized by high recurrence rates and distant metastases.]
Malignant Pleural Neoplasm	EFO_1000362	[A primary or metastatic malignant neoplasm affecting the pleura. A representative example of primary malignant pleural neoplasm is the malignant pleural mesothelioma. A representative example of metastatic malignant neoplasm to the pleura is metastatic carcinoma that has spread to the pleura from another anatomic site.]
pleural neoplasm	MONDO_0021065	[A benign or malignant neoplasm that involves the serous membrane that lines the lungs and thoracic cavity. Most pleural neoplasms are metastatic. Diffuse malignant mesothelioma is the most common primary malignant neoplasm of the pleura.]
Malignant Urinary System Neoplasm	EFO_1000363	[A primary or metastatic malignant tumor involving the urinary system. Common tumor types include carcinomas, lymphomas, and sarcomas.]
urinary system neoplasm	MONDO_0021066	[A benign or malignant, primary or metastatic neoplasm involving the urinary system. --2003]
atypical hemolytic-uremic syndrome with DGKE deficiency	MONDO_0018159
atypical hemolytic-uremic syndrome	MONDO_0016244	[Atypical hemolytic-uremic syndrome (aHUS) is a thrombotic microangiopathy characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction.]
Madelung deformity	MONDO_0018154	[Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow.]
Leri-Weill dyschondrosteosis	MONDO_0007481	[LC)ri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.]
joint formation defects	MONDO_0017429
3q26q27 microdeletion syndrome	MONDO_0018156