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Items: 16

1.

Rothmund-Thomson syndrome

Rothmund-Thomson syndrome (RTS) is characterized by poikiloderma; sparse hair, eyelashes, and/or eyebrows; small stature; skeletal and dental abnormalities; cataracts; and an increased risk for cancer, especially osteosarcoma. The skin is typically normal at birth; the rash of RTS develops between age three and six months as erythema, swelling, and blistering on the face and subsequently spreads to the buttocks and extremities. The rash evolves over months to years into the chronic pattern of reticulated hypo- and hyperpigmentation, punctate atrophy, and telangiectasias, collectively known as poikiloderma. Hyperkeratotic lesions occur in approximately one third of individuals. Skeletal abnormalities include radial ray defects, ulnar defects, absent or hypoplastic patella, and osteopenia. [from GTR]

MedGen UID:
10819
Concept ID:
C0032339
Disease or Syndrome
2.

Chromosomal Instability

The instability of chromosomes is attributed to the continuous formation of novel chromosome mutations. These mutations form at an elevated rate in comparison to the normal cell population. The increased frequency of structural chromosome aberrations can be caused by an abnormally high incidence of DNA double-strand breaks and translocations. Screening for chromosomal breakage and rearrangement is used as a diagnostic tool in Fanconi anemia. [from NCI]

MedGen UID:
263436
Concept ID:
C1257806
Cell or Molecular Dysfunction
3.

Instability

MedGen UID:
731956
Concept ID:
C1444783
Finding
4.

Skin appearance normal

The pores are visible but not large. The skin texture is neither fine or thick and it neither feels dry or oily to the touch. [from NCI]

MedGen UID:
108235
Concept ID:
C0558145
Finding
5.

Poikiloderma

A localized skin condition commonly associated with sun exposure that is characterized by variegated discoloration, telangiectasia and atrophy.(NICHD) [from NCI]

MedGen UID:
97905
Concept ID:
C0392777
Disease or Syndrome
6.

Abnormal

Deviating in any way from the state, position, structure, condition, behavior, or rule which is considered a norm. [from NCI]

MedGen UID:
59964
Concept ID:
C0205161
Finding
7.

DNA Repair-Deficiency Disorders

Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE. [from MeSH]

MedGen UID:
327583
Concept ID:
C1563696
Disease or Syndrome
8.

Genodermatosis

Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism. [from MeSH]

MedGen UID:
20779
Concept ID:
C0037277
Disease or Syndrome
9.

dermopathy

An abnormality of the skin. [from HPO]

MedGen UID:
20777
Concept ID:
C0037274
Disease or Syndrome
10.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
11.

Abnormality of the skin

A skin abnormality that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
11449
Concept ID:
C0037268
Congenital Abnormality
12.

Neonatal disorder

A non-neoplastic or neoplastic disorder which occurs during the neonatal period. [from NCI]

MedGen UID:
9460
Concept ID:
C0021290
Disease or Syndrome
13.

Disease

A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. [from MeSH]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
14.

Developmental abnormality

Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. [from NCI]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
15.

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
16.

Aneuploidy

A chromosomal abnormality in which there is an addition or loss of chromosomes within a set (e.g., 23 + 22 or 23 + 24). [from NCI]

MedGen UID:
294
Concept ID:
C0002938
Cell or Molecular Dysfunction
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