Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
Vaginismus	NCIT_C78703	[Tightness of the vaginal wall during vaginal penetration including sexual intercourse. It is caused by involuntary spasm of the pelvic floor muscles, and results in painful intercourse or failure to have intercourse. It may due to psychological conditions, trauma in the vaginal area, or vaginal infection.]
Leri-Weill Dyschondrosteosis	NCIT_C126560	[A bone growth disorder inherited in a pseudoautosomal dominant pattern caused by mutations in the SHOX gene. It is characterized by short long bones in the arms and legs, short stature, and abnormalities of the wrist and forearm bones which may cause pain and limit wrist movement.]
Varicose Vein of Lower Extremities with Inflammation	NCIT_C35115	[Inflammation of enlarged and tortuous veins in the hip, thigh, leg and/or foot.]
Niemann-Pick Disease, Type A	NCIT_C126561	[An autosomal recessive inherited lysosomal storage disease caused by mutations in the SMPD1 gene. It manifests with hepatosplenomegaly, failure to thrive, psychomotor regression, and interstitial lung disease.]
Intermediate Uveitis	NCIT_C35110	[Inflammation of the pars plana.]
Uveitis	NCIT_C26909	[An inflammatory process affecting a part of or the entire uvea. Causes include inflammatory agents (e.g., herpes simplex, herpes zoster, leptospirosis) and systemic diseases (e.g., inflammatory bowel disease, multiple sclerosis, systemic lupus erythematosus, ankylosing spondylitis). Patients present with pain and redness in the eye, light sensitivity, and blurred and decreased vision.]
Posterior Uveitis	NCIT_C35111	[An inflammatory process that affects the choroid.]
CCL22 wt Allele	NCIT_C49739	[Human CCL21 wild-type allele is located within 9p13 and is approximately 1 kb in length. This allele, which encodes C-C motif chemonkine 21 protein, plays a role in mediating the homing of lymphocytes to secondary lymphoid organs.]
CCL22 Gene	NCIT_C24776	[This gene is involved in chemoattractant regulation and immune responses.]
CCL20 wt Allele	NCIT_C49735	[Human CCL20 wild-type allele is located within 2q33-q37 and is approximately 4 kb in length. This allele, which encodes C-C motif chemokine 20 protein, is involved in lymphocytes, neutrophils, and dendritic cell chemotaxis and the proliferation of myeloid progenitor cells.]
CCL20 Gene	NCIT_C24774	[This gene plays a role in pro-inflammatory mediation.]
MMP9 wt Allele	NCIT_C49736	[Human MMP9 wild-type allele is located within 20q11.2-q13.1 and is approximately 8 kb in length. This allele, which encodes matrix metalloproteinase-9 protein, plays a role in the breakdown of the extracellular matrix via the degradation of both gelatins (types I and V) and interstitial collagens (types IV and V). The MMP9 gene is associated with neoplasm invasiveness.]
MMP9 Gene	NCIT_C26508	[This gene plays a role in inflammation, keratinocyte growth and the regulation of matrix remodeling.]
PLAT wt Allele	NCIT_C49737	[Human PLAT wild-type allele is located within 8p12 and is approximately 32 kb in length. This allele, which encodes tissue-type plasminogen activator protein, is involved in the regulation of plasmin-mediated proteolysis via the conversion of the proenzyme plasminogen to plasmin.]
PLAT Gene	NCIT_C26546	[This gene is involved in blood coagulation, cell migration and tissue remodeling.]
CCL21 wt Allele	NCIT_C49738	[Human CCL21 wild-type allele is located within 9p13 and is approximately 1 kb in length. This allele, which encodes C-C motif chemokine 21 protein, plays a role in mediating the homing of lymphocytes to secondary lymphoid organs.]
CCL21 Gene	NCIT_C24775	[This gene is involved in the regulation of leukocyte migration.]
CCL25 wt Allele	NCIT_C49742	[Human CCL25 wild-type allele is located in the vicinity of 19p13.2 and is approximately 10 kb in length. This allele, which encodes which encodes C-C motif chemokine 25 protein, plays a role in the chemotaxis of thymocytes, activated macrophages, THP-1 cells, and dendritic cells involved in inflammatory processes.]
CCL25 Gene	NCIT_C24779	[This gene is involved in the regulation of inflammatory processes.]
CCL26 wt Allele	NCIT_C49743	[Human CCL26 wild-type allele in the vicinity of 7q11.23 and is approximately 3 kb in length. This allele, which encodes C-C motif chemokine 26 protein, plays a role in the chemotactaxis of eosinophils and basophils in inflammatory processes.CCL26 may contribute to eosinophil accumulation in atopic diseases.]