Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
NSAA - Lifts Head	NCIT_C132548	[North Star Ambulatory Assessment (NSAA) Lift your head to look at your toes keeping your arms folded.]
NSAA - Stands on Heels	NCIT_C132549	[North Star Ambulatory Assessment (NSAA) Can you stand on your heels?]
ERCC3 Gene	NCIT_C20556	[This gene is involved in DNA excision repair and transcription.]
Xeroderma Pigmentosum, Complementation Group B	NCIT_C3966
Nucleotide Excision Repair	NCIT_C20213	[Nucleotide Excision Repair (NER) mends DNA regions that contain chemical adducts, such as UV-induced thymine dimers or carcinogenic adducts, which distort the DNA helix and interfere with replication and transcription. NER is targeted to actively transcribed regions of the genome. During NER in eukaryotes, shape irregularities are detected by protein complexes that slide along the DNA molecule and induce cuts on each side of a lesion several nucleotides away. Removal of the damaged 25-30 nucleotide fragment is followed by repair synthesis and ligation.]
ERCC5 Gene	NCIT_C20557	[This gene plays a role in the nucleotide base excision repair of UV-induced DNA damage and mutations of the gene cause Cockayne syndrome.]
Cockayne Syndrome	NCIT_C9460	[An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.]
Cerebrooculofacioskeletal Syndrome	NCIT_C3817	[A rare degenerative genetic disorder with an autosomal recessive pattern of inheritance that primarily affects the central nervous system. It is caused in some cases by mutations in the Cockayne syndrome group B gene, CSB/ERCC6, or the xeroderma pigmentosum genes: XPD/ERCC2, XPG/ERCC5, XPF/ERCC1, which are all involved in the transcription-coupled nucleotide excision repair pathway of DNA repair. It is currently thought to be part of the spectrum of disorders within Cockayne syndrome. Clinical signs at birth include microcephaly, hypotonia, abnormal reflexes and involuntary eye movements. The clinical prognosis is fatal with survivability beyond 5 years unlikely.]
Xeroderma Pigmentosum, Complementation Group G	NCIT_C3969
ERCC4 Gene	NCIT_C20558	[This gene is involved in nucleotide excision repair and is involved in the correction of defective nucleotide excision repair in xeroderma pigmentosum cells of complementation group F.]
FA Complementation Group Gene	NCIT_C159207
Xeroderma Pigmentosum, Complementation Group F	NCIT_C3968
TREX1 Gene	NCIT_C20559	[This gene is involved in DNA repair.]
APEX2 Gene	NCIT_C20553	[This gene plays a role in DNA recognition and repair.]
Base Excision Repair	NCIT_C20212	[Initiation of DNA base excision repair (BER) involves a DNA glycosylase that binds the altered deoxynucleoside in an extrahelical position and catalyzes cleavage of the base-sugar bond. Subsequently, an AP endonuclease or AP lyase activity incises the abasic site, followed by short-patch gap-filling, excision of the base-free sugar-phosphate residue, and ligation.]
NSAA - Stand on One Leg - Left	NCIT_C132540	[North Star Ambulatory Assessment (NSAA) Can you stand on your left leg for as long as you can?]
ERCC1 Gene	NCIT_C20554	[This gene is involved in nucleotide excision repair.]
NSAA - Climb Box Step - Right	NCIT_C132541	[North Star Ambulatory Assessment (NSAA) Can you step onto the top of the box using your right leg first?]
Xeroderma Pigmentosum, Complementation Group D	NCIT_C3967
NSAA - Climb Box Step - Left	NCIT_C132542	[North Star Ambulatory Assessment (NSAA) Can you step onto the top of the box using your left leg first?]