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Items: 14

1.

Episodic

Applied to a sign, symptom, or other manifestation that occurs at least twice and potentially multiple times but separated by an interval in whichthe sign, symptom, or manifestation is not present. [from HPO]

MedGen UID:
910017
Concept ID:
CN240220
Organism Attribute
2.

Sporadic

Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. [from HPO]

MedGen UID:
342827
Concept ID:
C1853237
Finding
3.

Methylation

The covalent chemical or biochemical addition of a methyl group(s) to a compound. (NCI) [from NCI]

MedGen UID:
44400
Concept ID:
C0025723
Molecular Function
4.

Chordoma

Chordomas are rare, clinically malignant tumors derived from notochordal remnants. They occur along the length of the spinal axis, predominantly in the sphenooccipital, vertebral, and sacrococcygeal regions. They are characterized by slow growth, local destruction of bone, extension into adjacent soft tissues, and, rarely, distant metastatic spread (Stepanek et al., 1998). The incidence of chordoma is age-dependent, with fewer than 5% occurring in children and adolescents (summary by McMaster et al., 2011). [from GTR]

MedGen UID:
40277
Concept ID:
C0008487
Neoplastic Process
5.

Chordoma

A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis. [from HPO]

MedGen UID:
426768
Concept ID:
CN009588
Finding
6.

Peroxisome Biogenesis Disorder, Complementation Group H

MedGen UID:
356488
Concept ID:
C1866260
Disease or Syndrome
7.

Neoplasm

A malignant tumor at the original site of growth. [from NCI]

MedGen UID:
227011
Concept ID:
C1306459
Neoplastic Process
8.

Pathogenesis

The pathologic, physiologic, or biochemical mechanism resulting in the development of a disease or morbid process. [from NCI]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
9.

Cancer, Embryonal

MedGen UID:
199639
Concept ID:
C0751364
Neoplastic Process
10.

Embryonal neoplasm

A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, Ependymoblastoma, Pineoblastoma, and Wilms tumor are representative embryonal neoplasms. --2003 [from NCI]

MedGen UID:
45034
Concept ID:
C0027654
Neoplastic Process
11.

Neoplasms by Histologic Type

A collective term for the various histological types of NEOPLASMS. It is more likely to be used by searchers than by indexers and catalogers. [from MeSH]

MedGen UID:
10295
Concept ID:
C0027652
Neoplastic Process
12.

Neoplasms, Germ Cell and Embryonal

Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS. [from MeSH]

MedGen UID:
10215
Concept ID:
C0027658
Neoplastic Process
13.

Chromosomal anomaly

Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. [from MeSH]

MedGen UID:
954
Concept ID:
C0008625
Cell or Molecular Dysfunction
14.

Loss of Chromosome 1p

A cytogenetic abnormality that refers to the allelic loss of the chromosomal arm 1p. It has been described in gliomas, meningiomas, neuroblastomas, hepatocellular carcinomas, breast carcinomas, acinar prostate adenocarcinomas, pancreatic carcinomas, and adrenal gland adenomas. [from NCI]

MedGen UID:
276485
Concept ID:
C1517972
Cell or Molecular Dysfunction
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