Terminology Service < Semantic Lookup Platform

All terms in NCIT

Label	Id	Description
SETD2 Gene	NCIT_C73662	[This gene is involved in epigenetic control of gene expression.]
SETD2 wt Allele	NCIT_C73663	[Human SETD2 is located in the vicinity of 3p21.31 and is approximately 108 kb in length. This allele, which encodes histone-lysine N-methyltransferase SETD2 protein, may play a role in transcriptional activation and epigenetic modification of chromatin.]
SETD7 wt Allele	NCIT_C73668	[Human SETD7 is located in the vicinity of 4q28 and is approximately 50 kb in length. This allele, which encodes histone-lysine N-methyltransferase SETD7 protein, may play a role in transcriptional activation and epigenetic modification of chromatin.]
Kenny-Caffey Syndrome Type 1	NCIT_C130992	[An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.]
Kenny-Caffey Syndrome Type 2	NCIT_C130993	[An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones.]
Laron Syndrome	NCIT_C130994	[Growth hormone insensitivity syndrome caused by mutation(s) and/or deletion(s) in the GHR gene, encoding the growth hormone receptor.]
Low T3 Syndrome	NCIT_C130995	[Reduced serum concentration of tri-iodothyronine caused by a variety of non-thyroidal conditions in which there is no dysfunction in the thyroid gland or the hypothalamic-pituitary axis.]
Maternal Diabetes and Deafness Syndrome	NCIT_C130996	[A maternally inherited condition characterized by diabetes and sensorineural deafness with onset after the age of 20, caused by mutation(s) in one of several mitochondrial genes, most frequently the MT-TL1 gene, which encodes the mitochondrial transfer RNA for leucine. Some patients may have additional features observed in mitochondrial disorders, including pigmentary retinopathy, ptosis, cardiomyopathy, myopathy, renal problems, and neuropsychiatric symptoms.]
Mauriac Syndrome	NCIT_C130997	[A complication of poorly controlled type 1 diabetes mellitus in children characterized by linear growth impairment, glycogenic hepatopathy, and Cushingoid features.]
Osteoporosis Pseudoglioma Syndrome	NCIT_C130998	[An autosomal recessive condition caused by homozygous or compound heterozygous inactivating mutation(s) in the gene LRP5, encoding low-density lipoprotein receptor-related protein 5. This condition is characterized by severe juvenile-onset osteoporosis and congenital or juvenile-onset blindness due to a vascularized retinal mass that resembles a glioma.]
Pearson Syndrome	NCIT_C130999	[The most severe syndrome in the spectrum of single, large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs), usually presenting shortly after birth with sideroblastic anemia. The condition is often associated with exocrine pancreas insufficiency and multi-system dysfunction including diabetes mellitus, cortisol deficiency, hypothyroidism, hypoparathyroidism, and growth hormone deficiency. Commonly associated clinical findings include the following: failure to thrive, hypotonia, ptosis, ophthalmoparesis, and renal disease.]
N3b Stage Finding	NCIT_C48716	[A general term that refers to a TNM finding of cancer metastases in multiple lymph nodes. The definition of N3b TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to metastases in clinically detected ipsilateral internal mammary lymph nodes in the presence of one or more positive axillary lymph nodes, or in more than 3 axillary lymph nodes and in internal mammary lymph nodes with micrometastases or macrometastases detected by sentinel lymph node biopsy but not clinically detected; for gastric cancer it refers to metastases in sixteen or more regional lymph nodes; for nasopharyngeal cancer it refers to extension to the supraclavicular fossa.]
N3 Stage Finding	NCIT_C48714	[A general term that refers to a TNM finding of cancer metastases in multiple lymph nodes. The definition of N3 TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to metastases in 10 or more axillary lymph nodes; for cutaneous melanoma it refers to metastases in 4 or more regional lymph nodes; for gastric cancer it refers to metastases in 7 or more regional lymph nodes; and for bladder cancer it refers to metastases in common iliac lymph nodes.]
N3c Stage Finding	NCIT_C48717	[A general term that refers to a TNM finding of cancer metastases in multiple lymph nodes. The definition of N3c TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to metastases in ipsilateral supraclavicular lymph nodes.]
NX Stage Finding	NCIT_C48718	[A regional lymph node TNM finding indicating that the status of regional lymph nodes cannot be assessed.]
Generic Regional Lymph Nodes TNM Finding	NCIT_C48884
T0 Stage Finding	NCIT_C48719	[A primary tumor TNM finding indicating that there is no evidence of primary tumor.]
N2b Stage Finding	NCIT_C48712	[A general term that refers to a TNM finding of cancer metastases in several regional lymph nodes. The definition of N2b TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to metastases only in clinically detected ipsilateral internal mammary nodes and in the absence of clinically evident level I, II axillary lymph node metastases; for cutaneous melanoma it refers to macrometastases in 2-3 regional lymph nodes; for colorectal cancer it refers to metastases in seven or more regional lymph nodes.]
N2 Stage Finding	NCIT_C48786	[A general term that refers to a TNM finding of cancer metastases in several regional lymph nodes. The definition of N2 TNM finding depends on the specific type of cancer that it refers to; for example, for breast cancer it refers to metastases in 4-9 axillary lymph nodes; for cutaneous melanoma it refers to metastases in 2-3 regional lymph nodes; for colorectal cancer it refers to metastases in 4 or more regional lymph nodes; and for bladder cancer it refers to metastases in multiple regional lymph nodes in the true pelvis.]
N2c Stage Finding	NCIT_C48713	[A general term that refers to a TNM finding of cancer metastases in several regional lymph nodes. The definition of N2c TNM finding depends on the specific type of cancer that it refers to; for example, for cutaneous melanoma it refers to intralymphatic metastases (in transit or satellite metastases) without metastatic nodes; for lip and oral cavity cancer it refers to metastases in bilateral or contralateral lymph nodes, none more than 6 cm in greatest dimension.]