Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
intracranial extraskeletal myxoid chondrosarcoma	MONDO_0004392	[An extraskeletal myxoid chondrosarcoma arising from the structures within the cranium.]
central nervous system sarcoma	MONDO_0002217	[A sarcoma that arises from the central nervous system.]
extraskeletal myxoid chondrosarcoma	MONDO_0012825	[A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs.]
infertility	EFO_0000545	[Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues., Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility.]
liposarcoma	EFO_0000569	[A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors.]
lipomatous cancer	MONDO_0002813	[A malignant mesenchymal neoplasm arising from adipocytes.]
adipose tissue	UBERON_0001013	[Portion of connective tissue composed of adipocytes enmeshed in areolar tissue.]
N-methyl-D-aspartic acid	CHEBI_31882	[An aspartic acid derivative having an N-methyl substituent and D-configuration.]
hypogonadotropic hypogonadism-retinitis pigmentosa syndrome	MONDO_0016386	[This syndrome is characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. It has been described in two sisters born to nonconsanguineous parents.]
Cannabis sativa	NCBITaxon_3483
hereditary poikiloderma	MONDO_0016382
nephrogenic diabetes insipidus	MONDO_0016383	[Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.]
impaired renal function disease	MONDO_0001343	[Any disease in which the causes of the disease is a perturbation of the kidney leading to its dysfunction.]
hypogonadotropic hypogonadism-frontoparietal alopecia syndrome	MONDO_0016384	[This syndrome is characterized by the association of hypogonadotropic hypogonadism and frontoparietal alopecia.]
hypogonadism-mitral valve prolapse-intellectual disability syndrome	MONDO_0016385	[This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.]
hypertrichosis lanuginosa congenita	MONDO_0016381	[Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes.]
obsolete_lobular breast carcinoma	EFO_0000570	[An adenocarcinoma of the breast arising from the lobules. This is a relatively uncommon carcinoma, represents approximately 10% of the breast adenocarcinomas and is often bilateral or multifocal., A infiltrating (invasive) breast cancer, relatively uncommon, accounting for only 5%-10% of breast tumors in most series. It is often an area of ill-defined thickening in the breast, in contrast to the dominant lump characteristic of ductal carcinoma. It is typically composed of small cells in a linear arrangement with a tendency to grow around ducts and lobules. There is likelihood of axillary nodal involvement with metastasis to meningeal and serosal surfaces. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1205)]
non-small cell lung carcinoma	EFO_0003060	[A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy.]
lymphoblast	EFO_0000572	[Often referred to as a blast cell. Unlike other usages of the suffix -blast a lymphoblast is a further differentiation of a lymphocyte, T- or B-, occasioned by an antigenic stimulus. The lymphoblast usually develops by enlargement of a lymphocyte, active re-entry to the S phase of the cell cycle, mitogenesis and production of much m-RNA and ribosomes., An immature lymphocyte that has enlarged in response to antigenic stimulation.]
Orofaciodigital syndrome type 9	Orphanet_141007