Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
Van der Woude Syndrome	NCIT_C74986	[A rare autosomal dominant syndrome caused by mutations in the IRF6 gene. It is characterized by a cleft palate and/or pits on the lower lip. Other signs and symptoms include absent teeth, palate and tongue deformities.]
IRF6 Gene	NCIT_C75616	[This gene plays a role in transcriptional regulation and the development of the palate.]
Feingold Syndrome	NCIT_C74987	[A rare autosomal dominant syndrome caused by mutations in the MYCN oncogene. It is characterized by microcephaly, limb abnormalities, esophageal and/or duodenal atresia.]
MYCN Gene	NCIT_C18405	[This gene is involved in transcriptional regulation and amplification of this gene is associated with a variety of tumors, most notably neuroblastomas.]
Left Ventricular Ejection Time	NCIT_C74981	[The time it take to eject blood from the left ventricle. Measurement begins when the aortic valve opens and ends when the aortic valve closes.]
Mini-Mental Status Exam	NCIT_C74982	[A standardized and structured interview originally developed by Marshal Folstein, Susan Folstein and Paul McHugh (Journal of Psychiatric Research, 1975), which is used to evaluate an individual's cognitive function.]
1p36 Deletion Syndrome	NCIT_C74983	[A rare syndrome caused by the deletion of the distal band on the short arm of chromosome 1. It is characterized by a distinctive facial appearance (microcephaly, deep set eyes, flat nose, and pointed chin), developmental abnormalities, mental retardation, seizures, hypotonia, hearing loss, and heart defects.]
Holoprosencephaly	NCIT_C74988	[A rare disorder characterized by the failure of the forebrain to divide into distinct hemispheres. It is associated with craniofacial abnormalities, developmental abnormalities, and seizures.]
Cells per Femur	NCIT_C74989	[A unit of cell concentration expressed as the number of total cells per femur.]
Rat Benign Oligodendroglioma	NCIT_C60354
Rat Benign Pinealoma	NCIT_C60355
Rat Benign Schwannoma	NCIT_C60356
Rat Benign Sertoli Cell Tumor	NCIT_C60357
Rat Benign Mixed Sex Cord Stromal Tumor	NCIT_C60350
Rat Benign Mixed Tumor	NCIT_C60351
Rat Benign Neuroendocrine Cell Tumor	NCIT_C60352
Rat Benign Teratoma	NCIT_C60358
Prostatic Crystalloids Present	NCIT_C60359
Holoprosencephaly Type 2	NCIT_C74995	[A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.]
SIX3 Gene	NCIT_C75551	[This gene plays a role in retinal development.]