Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Bartholin gland neoplasm	MONDO_0021114	[A benign or malignant neoplasm that affects the Bartholin gland. Representative examples include adenoma, adenomyoma, adenocarcinoma, and squamous cell carcinoma.]
Atypical Lobular Breast Hyperplasia	EFO_1000100	[Lobular neoplasia characterized by lobular epithelial proliferation that does not completely fill the lobular unit of the breast.]
thumb stiffness-brachydactyly-intellectual disability syndrome	MONDO_0008563	[Thumb stiffness-brachydactyly-intellectual disability syndrome is characterized by intellectual deficit, mild dysmorphism, type A brachydactylia, signs of obesity and ankylosis of both thumbs. It has been reported in several females from one family (a girl and her mother, her grandmother and probably also her sister and her great-aunt), as well as in an isolated case.]
Atypical Meningioma	EFO_1000101	[A WHO grade II meningioma characterized by the presence of an increased mitotic activity or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis.]
thumb deformity-alopecia-pigmentation anomaly syndrome	MONDO_0008562	[Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.]
biological sex	PATO_0000047	[An organismal quality inhering in a bearer by virtue of the bearer's ability to undergo sexual reproduction in order to differentiate the individuals or types involved. [ MGED:MGED ]]
thyrotoxic periodic paralysis, susceptibility to, 1	MONDO_0008570	[Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene.]
thyrotoxic periodic paralysis	MONDO_0019201	[Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.]
obsolete_mosaic trisomy 16	Orphanet_1708
Benign Carotid Body Paraganglioma	EFO_1000108	[A carotid body paraganglioma that is confined to the site of origin, without metastatic potential.]
carotid body paraganglioma	MONDO_0021053	[A benign or malignant extra-adrenal parasympathetic paraganglioma arising from paraganglia adjacent to or in the bifurcation of the common carotid artery. Most patients present with a slow growing, painless mass in the neck.]
benign neoplasm of peripheral nervous system	MONDO_0056804
obsolete_mosaic trisomy 15	Orphanet_1706
Benign Childhood Cerebral Neoplasm	EFO_1000109	[A non-metastasizing neoplasm that arises from the cerebral hemispheres during childhood.]
obsolete_distal trisomy 15q	Orphanet_1707
Benign Adrenal Gland Pheochromocytoma	EFO_1000106	[A sporadic or familial pheochromocytoma that is confined to the adrenal gland and does not have any metastatic potential. The majority of cases are sporadic, and usually unilateral. Familial cases are usually bilateral.]
benign neoplasm of adrenal medulla	MONDO_0021468	[A benign neoplasm that involves the adrenal medulla.]
morphology	PATO_0000051	[A property of a single physical entity describing the entity's size or shape or structure.]
obsolete_distal trisomy 14q	Orphanet_1705
benign neoplasm of corpus uteri	MONDO_0021525	[A benign neoplasm that involves the body of uterus.]