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Results: 1 to 20 of 25

1.

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
2.

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 OMIM]

MedGen UID:
472512
Concept ID:
CN143712
Disease or Syndrome
3.

der(15;21)(q10;q10)

MedGen UID:
273712
Concept ID:
C1515616
Cell or Molecular Dysfunction
4.

der(1;16)(q10;p10)

MedGen UID:
272927
Concept ID:
C1515617
Cell or Molecular Dysfunction
5.

Ossifying Fibromyxoid Neoplasm

A rare soft tissue neoplasm of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients. [from NCI]

MedGen UID:
226846
Concept ID:
C1266128
Neoplastic Process
6.

Abnormality

A condition that differs from the usual physical or mental state. [from NCI]

MedGen UID:
309940
Concept ID:
C1704258
Finding
7.

5q- syndrome

The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal or elevated platelet counts, normal or reduced neutrophil counts, erythroid hypoplasia in the bone marrow, and hypolobated micromegakaryocytes (Ebert et al., 2008). [from OMIM]

MedGen UID:
196625
Concept ID:
C0740302
Disease or Syndrome
8.

Chromosomal anomaly

irregularity in the number or structure of chromosomes that may alter the course of development. [from CRISP]

MedGen UID:
954
Concept ID:
C0008625
Cell or Molecular Dysfunction
9.

Mutagenesis Process

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
10.

Connective and Soft Tissue Neoplasm

Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue. [from MeSH]

MedGen UID:
60224
Concept ID:
C0206765
Neoplastic Process
11.

Fibrous tissue neoplasm

Neoplasms composed of fibrous tissue, the ordinary connective tissue of the body, made up largely of yellow or white fibers. The concept does not refer to neoplasms located in fibrous tissue. [from MeSH]

MedGen UID:
60198
Concept ID:
C0206643
Neoplastic Process
12.

Fibromyxoid Neoplasm

A benign soft-tissue neoplasm of uncertain lineage, characterized by the presence of neoplastic spindle-shaped to round cells and a fibromyxoid stroma. [from NCI]

MedGen UID:
60023
Concept ID:
C0205766
Neoplastic Process
13.

Neoplasm of connective tissues

Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue. [from MeSH]

MedGen UID:
45035
Concept ID:
C0027656
Neoplastic Process
14.

Fibroma

A benign tumor of fibrous or fully developed connective tissue. [from MeSH]

MedGen UID:
42016
Concept ID:
C0016045
Neoplastic Process
15.

Heterotopic ossification

The development of bony substance in normally soft structures. [from MeSH]

MedGen UID:
18209
Concept ID:
C0029396
Pathologic Function
16.

Soft Tissue Neoplasm

A benign or malignant neoplasm that arises from mesenchymal cells in extra skeletal sites. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. [from NCI]

MedGen UID:
11495
Concept ID:
C0037579
Neoplastic Process
17.

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
18.

Fibromatosis

A poorly circumscribed neoplasm arising from the soft tissues. It is characterized by the presence of spindle-shaped fibroblasts and an infiltrative growth pattern. [from NCI]

MedGen UID:
8836
Concept ID:
C0016048
Neoplastic Process
19.

Elderly person

A person 65 through 79 years of age. For a person older than 79 years, AGED, 80 AND OVER is available. [from MeSH]

MedGen UID:
7927
Concept ID:
C0001792
Finding
20.

Ossifying fibromyxoid tumor, malignant

MedGen UID:
825800
Concept ID:
C3839955
Neoplastic Process

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