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Items: 19

1.

Desmoplastic Small Round Cell Tumor

An aggressive malignant soft tissue neoplasm of uncertain differentiation. It is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass. The prognosis is usually poor. [from NCI]

MedGen UID:
83833
Concept ID:
C0281508
Neoplastic Process
2.

Wilms tumor 1

Aniridia is characterized by complete or partial iris hypoplasia usually (but not always) with associated foveal hypoplasia resulting in reduced visual acuity and nystagmus presenting in early infancy. Frequently associated ocular abnormalities (often of later onset) include cataract, glaucoma, and corneal opacification and vascularization. Aniridia may occur either as an isolated ocular abnormality without systemic involvement, caused by mutation of PAX6 or deletion of a regulatory region controlling its expression, or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome, with a deletion of 11p13 involving the PAX6 (aniridia) locus and the adjacent WT1 (Wilms tumor) locus. Individuals with deletion of PAX6 and WT1 are at up to a 50% risk of developing Wilms tumor. [from GTR]

MedGen UID:
447509
Concept ID:
CN033288
Disease or Syndrome
3.

Desmoplastic

This term refers to the growth of fibrous or connective tissue. Some tumors elicit a desmoplastic reaction, the pervasive growth of dense fibrous tissue around the tumor. Scar tissue (adhesion) within the abdomen after abdominal surgery is another type of desmoplastic reaction. (MedicineNet.com) [from NCI]

MedGen UID:
307421
Concept ID:
C1511789
Disease or Syndrome
4.

Nephroblastoma

A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN. [from MeSH]

MedGen UID:
10221
Concept ID:
C0027708
Neoplastic Process
5.

Sarcoma

A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. [from HPO]

MedGen UID:
224714
Concept ID:
C1261473
Neoplastic Process
6.

Ewing sarcoma

Ewing sarcoma is a cancerous tumor that occurs in bones or soft tissues, such as cartilage or nerves. There are several types of Ewing sarcoma, including Ewing sarcoma of bone, extraosseous Ewing sarcoma, peripheral primitive neuroectodermal tumor (pPNET), and Askin tumor. These tumors are considered to be related because they have similar genetic causes. These types of Ewing sarcoma can be distinguished from one another by the tissue in which the tumor develops. Approximately 87 percent of Ewing sarcomas are Ewing sarcoma of bone, which is a bone tumor that usually occurs in the thigh bones (femurs), pelvis, ribs, or shoulder blades. Extraosseous (or extraskeletal) Ewing sarcoma describes tumors in the soft tissues around bones, such as cartilage. pPNETs occur in nerve tissue and can be found in many parts of the body. A type of pPNET found in the chest is called Askin tumor.Ewing sarcomas most often occur in children and young adults. Affected individuals usually feel stiffness, pain, swelling, or tenderness of the bone or surrounding tissue. Sometimes, there is a lump near the surface of the skin that feels warm and soft to the touch. Often, children have a fever that does not go away. Ewing sarcoma of bone can cause weakening of the involved bone, and affected individuals may have a broken bone with no obvious cause.It is common for Ewing sarcoma to spread to other parts of the body (metastasize), usually to the lungs, to other bones, or to the bone marrow. [from GTR]

MedGen UID:
107816
Concept ID:
C0553580
Neoplastic Process
7.

Zinc

A metallic element of atomic number 30 and atomic weight 65.38. It is a necessary trace element in the diet, forming an essential part of many enzymes, and playing an important role in protein synthesis and in cell division. Zinc deficiency is associated with ANEMIA, short stature, HYPOGONADISM, impaired WOUND HEALING, and geophagia. It is known by the symbol Zn. [from MeSH]

MedGen UID:
22752
Concept ID:
C0043481
Biologically Active Substance; Element, Ion, or Isotope; Pharmacologic Substance
8.

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
9.

Wilms Tumor

MedGen UID:
893580
Concept ID:
CN239467
Disease or Syndrome
10.

Ewing sarcoma

A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. [from HPO]

MedGen UID:
506718
Concept ID:
CN168774
Finding
11.

Sarcoma

A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. [from HPO]

MedGen UID:
506452
Concept ID:
CN117138
Finding
12.

Nephroblastoma

The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. [from HPO]

MedGen UID:
505324
Concept ID:
CN002424
Finding
13.

Chromosomal translocation

A genetic exchange where a piece of one chromosome is transfered to another chromosome. [from NCI]

MedGen UID:
21243
Concept ID:
C0040715
Cell or Molecular Dysfunction
14.

Thoracic Neoplasm

A benign or malignant, primary or metastatic neoplasm involving the tissues of the thorax. [from NCI]

MedGen UID:
11793
Concept ID:
C0039981
Neoplastic Process
15.

Neoplasm of abdomen

New abnormal growth of tissue in the ABDOMEN. [from MeSH]

MedGen UID:
1676
Concept ID:
C0000735
Neoplastic Process
16.

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
17.

Adult Desmoplastic Small Round Cell Tumor

A desmoplastic small round cell tumor occurring in adults. [from NCI]

MedGen UID:
272294
Concept ID:
C1332199
Neoplastic Process
18.

Recurrent Kidney Wilms Tumor

The reemergence of Wilms tumor of the kidney after a period of remission. [from NCI]

MedGen UID:
78873
Concept ID:
C0278716
Neoplastic Process
19.

Recurrent Adult Soft Tissue Sarcoma

MedGen UID:
75850
Concept ID:
C0278665
Neoplastic Process
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