Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
Serine/Threonine-Protein Kinase Chk2	NCIT_C40966	[Serine/threonine-protein kinase Chk2 (543 aa, ~61 kDa) is encoded by the human CHEK2 gene. This protein plays an essential role in the DNA damage checkpoint of the cell cycle.]
MSX1 Gene	NCIT_C40967	[This gene is involved in transcriptional repression and embryogenesis.]
Tooth and Nail Syndrome	NCIT_C40553	[A rare genetic disorder with an autosomal dominant pattern of inheritance. It is associated with mutations in the MSX-1 gene on chromosome 4 which alter ectodermal morphogenesis. Characteristic clinical signs include absent or poorly-formed dentition and brittle, spoon-shaped finger and toenails. Clinical course features an increased incidence of dental caries but is essentially benign.]
MSX1 Gene Mutation	NCIT_C40554
Homeobox Protein MSX-1	NCIT_C40968	[Homeobox protein MSX-1 (297 aa, ~31 kDa) is encoded by the human MSX1 gene. This protein plays a role in transcriptional modulation and odontogenesis.]
Neural Cell Adhesion Molecule L1	NCIT_C112138	[Neural cell adhesion molecule L1 (1257 aa, ~140 kDa) is encoded by the human L1CAM gene. This protein plays a role in neurogenesis.]
MHC Interaction	NCIT_C40519	[MHC Interaction involves temporary non-covalent binding of a molecule through intermolecular physical forces of attraction with protein complexes on the surface of diverse cell types that typically mediate cellular cooperation in the immune response.]
MYH2 wt Allele	NCIT_C112134	[Human MYH2 wild-type allele is located in the vicinity of 17p13.1 and is approximately 85 kb in length. This allele, which encodes myosin-2 protein, plays a role in muscle contraction.]
MYH2 Gene	NCIT_C112133	[This gene is involved in skeletal muscle contraction.]
Myosin-2	NCIT_C112135	[Myosin-2 (1941 aa, ~223 kDa) is encoded by the human MYH2 gene. This protein is involved in the contraction of skeletal muscles.]
L1CAM Gene	NCIT_C112136	[This gene plays a role in the development of the nervous system.]
Chromogenic In Situ Hybridization	NCIT_C40960	[A laboratory procedure that combines the sequence-specific detection aspects of FISH with the simple detection methods of immunohistochemistry. Briefly, sequence-specific probes are hybridized to cells fixed on slides and the sequestered probe is visualized by a peroxidase reaction. It has the advantage of being a less costly assay that does not require fluorescence microscopy with results that are stable over time.]
In Situ Hybridization	NCIT_C17562	[Use of a DNA or RNA probe to detect the presence of complementary sequences in chromosomes, cells, or tissues.]
L1CAM wt Allele	NCIT_C112137	[Human L1CAM wild-type allele is located in the vicinity of Xq28 and is approximately 48 kb in length. This allele, which encodes neural cell adhesion molecule L1 protein, is involved in neuron-neuron cell adhesion, axon guidance and bundling of neurons. Mutation of the gene is associated with hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS), mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA or CRASH syndrome), spastic paraplegia 1, X-linked and agenesis of the corpus callosum, X-linked, partial and may contribute to intestinal aganglionosis in Hirschsprung disease.]
Partial Hysterectomy	NCIT_C40961	[Surgical removal of part of the uterus.]
Corpus Uteri	NCIT_C12316	[The Corpus uteri, or body of uterus, is the part of the uterus above the isthmus, comprising about two thirds of the non-pregnant organ.]
MYH1 Gene	NCIT_C112130	[This gene plays a role in muscle contraction.]
Testicular Polyembryoma	NCIT_C40962	[A rare malignant germ cell tumor that arises from the testis and is characterized by the presence of embryoid bodies.]
Gonadal Polyembryoma	NCIT_C66776	[A rare malignant germ cell tumor arising from the testis and less often from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos.]
Malignant Testicular Germ Cell Tumor	NCIT_C9063	[A malignant tumor predominantly affecting young men and often associated with cryptorchidism. Seminoma is the most frequently seen malignant testicular germ cell tumor, followed by embryonal carcinoma and yolk sac tumor.]