Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
Colon Juvenile Polyp	EFO_1000185	[A non-neoplastic hamartomatous polyp that arises from the colon. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.]
Colorectal Juvenile Polyp	EFO_1000194	[A non-neoplastic hamartomatous polyp that arises from the colon and rectum. It is characterized by the presence of tortuous and cystically dilated glands, edematous changes, and inflammation.]
obsolete_45,X/46,XY mixed gonadal dysgenesis	Orphanet_1772	[45,X/46,XY mixed gonadal dysgenesis (45,X/46,XY MGD) is a disorder of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and leading to abnormal gonadal development.]
Colon Burkitt Lymphoma	EFO_1000182	[A rare Burkitt lymphoma that arises from the colon.]
colon lymphoma	MONDO_0002035	[An extranodal lymphoma that arises from the colon. The majority are B-cell non-Hodgkin lymphomas.]
obsolete_partial deletion of chromosome 16	Orphanet_261826
Colon Dysplasia	EFO_1000183	[A morphologic finding indicating the presence of dysplastic glandular epithelial cells in the colonic mucosa. There is no evidence of invasion.]
colonic disorder	MONDO_0003409	[Pathological processes in the colon region of the large intestine (intestine, large).]
Gonadal dysgenesis, XY type - associated anomalies	Orphanet_1770
Clear Cell Meningioma	EFO_1000180	[A WHO grade II morphologic variant of meningioma characterized by the presence of clear glycogen-rich polygonal cells.]
Clear Cell Papillary Cystadenoma	EFO_1000181	[A benign cystic glandular epithelial neoplasm characterized by the presence of neoplastic clear or hobnail cells which form papillary structures. There is no evidence of stromal invasion.]
papillary cystadenoma	MONDO_0021091	[A serous or mucinous benign or low malignant potential cystic epithelial neoplasm. It is characterized by the presence of glandular epithelial cells forming papillary structures.]
obsolete_partial deletion of the long arm of chromosome 12	Orphanet_261821
Dysmorphism - cleft palate - loose skin	Orphanet_1779
obsolete_temtamy syndrome	Orphanet_1777
Facial dysmorphism - shawl scrotum - joint laxity	Orphanet_1778
Colon Neuroendocrine Tumor G1	EFO_1000188	[A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.]
Colorectal Neuroendocrine Tumor G1	EFO_1000195	[A well differentiated, low grade neuroendocrine tumor (carcinoid tumor) that arises from the colon or rectum. The mitotic count is less than 2 per 10 HPF and/or the Ki67 index is equal to or less than 2 percent.]
neuroendocrine tumor of the colon, well differentiated, low or intermediate grade tumor	MONDO_0015067	[A well differentiated, low or intermediate grade tumor with neuroendocrine differentiation that arises from the colon.]
obsolete_dyskeratosis congenita	Orphanet_1775