Terminology Service < Semantic Lookup Platform

All terms in EFO

Label	Id	Description
obsolete_mosaic trisomy 7	Orphanet_1747
obsolete_distal trisomy 6p	Orphanet_1745
obsolete_trisomy 5p	Orphanet_1742
qualitative	PATO_0000068
Penicillium fellutanum	NCBITaxon_70095
thanatophoric dysplasia type 2	MONDO_0008547	[Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.]
thanatophoric dysplasia	MONDO_0017042	[Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.]
thanatophoric dysplasia type 1	MONDO_0008546	[Thanatophoric dysplasia type 1 (TD1) is a form of TD characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.]
tetramelic monodactyly	MONDO_0008544	[Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.]
extensor tendons of finger anomalies	MONDO_0008540
benign neoplasm of spinal cord	MONDO_0021506	[A benign neoplasm that involves the spinal cord.]
central nervous system organ benign neoplasm	MONDO_0000628	[A benign neoplasm that involves the central nervous system.]
benign neoplasm of prostate	MONDO_0021510	[A benign neoplasm that involves the prostate gland.]
prostate neoplasm	MONDO_0021259	[A neoplasm (disease) that involves the prostate gland.]
benign male reproductive system neoplasm	MONDO_0000625	[A non-metastasizing neoplasm that arises from the male reproductive system. Representative examples include benign prostate phyllodes tumor, benign Sertoli cell tumor, seminal vesicle cystadenoma, and epididymal adenomatoid tumor.]
thrombophilia due to thrombin defect	MONDO_0008559	[The formation of a blood clot (thrombus) in the lumen of a vein.]
inherited thrombophilia	MONDO_0100240	[An instance of thrombophilia that is inherited.]
benign neoplasm of adrenal gland	MONDO_0021511	[A benign neoplasm that involves the adrenal gland.]
adrenal gland neoplasm	EFO_0003850	[Tumors or cancer of the ADRENAL GLANDS., A neoplasm (disease) that involves the adrenal gland.]
Paris-Trousseau thrombocytopenia	MONDO_0008557	[Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.]