Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
Venule	NCIT_C12818	[The part of the microvasculature that receives blood from the capillaries, and which then converges to form veins.]
Engineered Gene	NCIT_C40985	[A gene that has been artificially altered in sequence or structure.]
Diffuse Immunoblastic Proliferation	NCIT_C40986
Left Ureter	NCIT_C49324	[The ureter connecting the left kidney to the bladder.]
Ureter	NCIT_C12416	[The thick-walled tube that carries urine from each kidney to the bladder.]
Right Adrenal Gland	NCIT_C49325	[The adrenal gland located on the right side of the body.]
Right Testis	NCIT_C49326	[The testis on the right side of the body.]
Right Ureter	NCIT_C49327	[The ureter connecting the right kidney to the bladder.]
Venous System Endothelium	NCIT_C49320	[The layer of cells that line the lumen of any vessels that is part of the venous system.]
Venous System	NCIT_C33858	[A series of the vessels that transport deoxygenated blood.]
Congenital Disorder of Deglycosylation	NCIT_C126746	[A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.]
Venous System Smooth Muscle Tissue	NCIT_C49321	[The non-striated muscle tissue surrounding the blood vessels that are part of the venous system.]
Lubs X-Linked Mental Retardation Syndrome	NCIT_C126747	[An X-linked inherited syndrome caused by duplication or triplication of the gene encoding methyl-CpG-binding protein-2 (MECP2). It is characterized by mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections.]
Left Adrenal Gland	NCIT_C49322	[The adrenal gland located on the left side of the body.]
Acute Myeloid Leukemia with FLT3/ITD Mutation	NCIT_C126748	[Acute myeloid leukemia characterized by the presence of a FLT3-internal tandem duplication (ITD) mutation. Patients with this mutation usually present with more aggressive disease and have higher rates of relapse after remission.]
Acute Myeloid Leukemia with Gene Mutations	NCIT_C82430	[A term referring to acute myeloid leukemias associated with gene mutations most often of the FLT3, NPM1, and CEBPA genes. These leukemias may have normal karyotypes or additional chromosomal aberrations.]
Left Testis	NCIT_C49323	[The testis on the left side of the body.]
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 2	NCIT_C126742	[An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.]
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 6	NCIT_C126743	[An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.]
Codas Syndrome	NCIT_C126744	[A rare syndrome caused by mutations in the LONP1 gene. It is characterized by developmental delay, cerebral, ocular, dental, auricular, and skeletal abnormalities.]