Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
SIM1-related Prader-Willi-like syndrome	MONDO_0018355
Prader-Willi-like syndrome	MONDO_0018354	[Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities.]
squamous cell carcinoma of penis	MONDO_0018352	[A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. Morphologic variants include the basaloid carcinoma, warty (condylomatous) carcinoma, verrucous carcinoma, and sarcomatoid (spindle cell) carcinoma. (WHO, 2004)]
Penile Carcinoma	EFO_1000465	[A carcinoma that arises from epithelial cells of the penis]
Testicular Non-Seminomatous Germ Cell Tumor	EFO_1000570	[A testicular germ cell tumor characterized by the absence of a seminomatous component. It includes embryonal carcinoma, yolk sac tumor, choriocarcinoma, teratoma, and mixed forms.]
Self-injurious behavior	HP_0100716	[Aggression towards oneself.]
Abnormal aggressive, impulsive or violent behavior	HP_0006919
Thymic Sarcomatoid Carcinoma	EFO_1000577	[A rare, usually aggressive, primary thymic carcinoma, characterized by the presence of tumor cells morphologically resembling soft tissue sarcoma.]
Sarcomatoid Carcinoma	EFO_1000520	[A malignant epithelial neoplasm characterized by the presence of spindle cells and anaplastic morphologic features. Giant cells and a sarcomatous component may also be present.]
Thymic Carcinoma	EFO_1000576	[Thymic carcinoma (TC) is a type of thymic epithelial neoplasm characterized by a high malignant potential.]
Thymic Small Cell Carcinoma	EFO_1000578	[An aggressive, small cell, poorly differentiated thymic neuroendocrine carcinoma, characterized by the presence of a high mitotic rate and numerous apoptotic bodies.]
thymic neuroendocrine carcinoma	MONDO_0020516	[Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm displaying evidence of neuroendocrine differentiation.]
Therapy-Related Myeloid Neoplasm	EFO_1000575	[Acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders.]
myeloproliferative disorder	EFO_0004251	[A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)]
chronic myeloproliferative disorder	EFO_0002428	[Chronic Myeloproliferative Disease is an NCI Cancer Therapeutic Evaluation Program (CTEP) Simplified Disease Classification (SDC) category used to organize cancer-related disease coding that harmonizes with and supports reporting based on the global standard Medical Dictionary for Drug Regulatory Reporting (MedDRA) terminology., A clonal hematopoietic stem cell disorder, characterized by proliferation in the bone marrow of one or more of the myeloid (i.e., granulocytic, erythroid, megakaryocytic, and mast cell) lineages. It is primarily a neoplasm of adults. (WHO 2008)]
fulvestrant	CHEBI_31638	[A 3-hydroxy steroid that has formula C32H47F5O3S.]
thymus cancer	MONDO_0002586	[A primary or metastatic malignant neoplasm involving the thymus. This category includes malignant thymomas, thymic lymphomas, primary thymic carcinomas, and metastatic carcinomas from other anatomic sites.]
thymic epithelial neoplasm	MONDO_0018079	[An epithelial neoplasm that affects the thymus gland. This category includes thymomas and carcinomas.]
Testicular Teratoma	EFO_1000573
Testicular Yolk Sac Tumor	EFO_1000574	[A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation.]