Format
Items per page

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 25

1.

Mild

Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
268697
Concept ID:
C1513302
Finding
2.

Nonsense mutation

A mutation that converts a sense codon (CODON) into a stop codon (CODON, TERMINATOR) or an unassigned codon and leads to the formation of truncated proteins. [from MeSH]

MedGen UID:
107464
Concept ID:
C0544885
Cell or Molecular Dysfunction
3.

Congenital ichthyosiform erythroderma

An ichthyosiform abnormality of the skin with congenital onset. [from HPO]

MedGen UID:
86936
Concept ID:
C0079583
Disease or Syndrome
4.

Bullous ichthyosiform erythroderma

Epidermolytic hyperkeratosis (EHK), also termed bullous congenital ichthyosiform erythroderma (BCIE), is a keratinization disorder with an incidence of approximately 1 in 200,000 in the USA. The clinical phenotype of EHK is characterized by erythema and widespread formation of epidermal blisters developing at birth. Later in life, bullous erythema is replaced by progressive hyperkeratosis, involving thickening of the cornified layer of the epidermis (summary by Muller et al., 2006). Goldsmith (1976) used the designation of epidermolytic hyperkeratosis for the condition that is called bullous congenital ichthyosiform erythroderma (BCIE) when generalized, and ichthyosis hystrix (see 146600) when localized. They are presumably distinct entities. A form of epidermolytic hyperkeratosis that is limited to the palms and soles, designated palmoplantar keratoderma (EPPK; 144200), is caused by mutation in the keratin gene KRT9 (607606), and a mild form of EPPK can also be caused by mutation in KRT1. [from GTR]

MedGen UID:
38179
Concept ID:
C0079153
Congenital Abnormality
5.

Erythroderma

A generalized inflammatory cutaneous disorder characterized by erythema and desquamation.(NICHD) [from NCI]

MedGen UID:
3767
Concept ID:
C0011606
Disease or Syndrome
6.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
7.

Abnormal blistering of the skin

The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. [from HPO]

MedGen UID:
451011
Concept ID:
C0241054
Finding
8.

Abnormal blistering of the skin

The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. [from HPO]

MedGen UID:
412159
Concept ID:
C2132198
Finding
9.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
10.

Skin and Connective Tissue Diseases

A collective term for diseases of the skin and its appendages and of connective tissue. [from MeSH]

MedGen UID:
59786
Concept ID:
C0175166
Disease or Syndrome
11.

Xeroderma

A non-neoplastic disorder characterized by abnormally dry skin. Causes include vitamin A deficiency, sunlight exposure, medications, metabolic disorders, autoimmune disorders, and hereditary genetic disorders. [from NCI]

MedGen UID:
53106
Concept ID:
C0043345
Disease or Syndrome
12.

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
13.

dermopathy

An abnormality of the skin. [from HPO]

MedGen UID:
20777
Concept ID:
C0037274
Disease or Syndrome
14.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Congenital Abnormality; Disease or Syndrome
15.

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
Disease or Syndrome; Finding
16.

Keratosis

Any horny growth such as a wart or callus. [from MeSH]

MedGen UID:
9625
Concept ID:
C0022593
Disease or Syndrome
17.

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
18.

Ichthyosis

A group of inherited or acquired skin disorders characterized by a dry, thickened, and scaly skin. The skin changes range from mild to severe. [from NCI]

MedGen UID:
7002
Concept ID:
C0020757
Disease or Syndrome
19.

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
20.

Congenital Ichthyosiform Erythroderma, Wet Type

MedGen UID:
58112
Concept ID:
C0162500
Disease or Syndrome
Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
Support Center