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Items: 13

1.

Bone Neoplasm

A benign, intermediate, or malignant neoplasm involving the bone or articular cartilage. [from NCI]

MedGen UID:
2701
Concept ID:
C0005967
Neoplastic Process
2.

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
3.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). [from GTR]

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
4.

Chimera

MedGen UID:
727368
Concept ID:
C1318484
Congenital Abnormality
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:
506452
Concept ID:
CN117138
Finding
6.

Undifferentiated (Embryonal) Sarcoma

An aggressive malignant mesenchymal neoplasm that arises from the liver and usually occurs in older children. It is composed of immature spindle, stellate, polymorphous, and giant cells. [from NCI]

MedGen UID:
163512
Concept ID:
C0855073
Neoplastic Process
7.

Mutagenesis

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function
8.

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
9.

Disorder of bone

Diseases of BONES. [from MeSH]

MedGen UID:
14182
Concept ID:
C0005940
Disease or Syndrome
10.

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
11.

Undifferentiated Epithelioid Sarcoma

An undifferentiated soft tissue sarcoma characterized by the presence of a malignant cellular infiltrate with epithelioid morphology. [from NCI]

MedGen UID:
889671
Concept ID:
C4053898
Neoplastic Process
12.

Neoplasm of pelvic bone

MedGen UID:
712627
Concept ID:
C1290246
Neoplastic Process
13.

Benign neoplasm of pelvic bone

MedGen UID:
671596
Concept ID:
C0684575
Neoplastic Process
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