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Items: 7

1.

Arginine glutamate

MedGen UID:
91342
Concept ID:
C0377223
Amino Acid, Peptide, or Protein; Pharmacologic Substance
2.

Arginine

One of the twenty common amino acids (building blocks of proteins). Arginine is being studied as a nutritional supplement in the treatment and prevention of cancer and other conditions. [from NCI]

MedGen UID:
13907
Concept ID:
C0003765
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
3.

Phosphorylation

A process in which a phosphate group is added to a molecule, such as a sugar or a protein. [from NCI]

MedGen UID:
10742
Concept ID:
C0031715
Molecular Function
4.

Molecular Dynamics

standard computational technique used following the temporal evolution of a system of particles, interacting with each other by means of a certain law; various phenomena can be studied such as phase transitions, liquid structure, defects in solids (vacancies, dislocations, grain boundaries, etc), amorphous materials, surfaces, clusters; the interplay between structure and dynamics of molecules and how these influence function. [from CRISP]

MedGen UID:
108592
Concept ID:
C0596957
Molecular Function
5.

Energy

MedGen UID:
603300
Concept ID:
C0424589
Finding
6.

Epidermolysis bullosa simplex

Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some cases) that results in non-scarring blisters and erosions caused by minor mechanical trauma. The current classification of epidermolysis bullosa (EB) includes two major types and 17 minor subtypes of EBS; all share the common feature of blistering above the dermal-epidermal junction at the ultrastructural level. The four most common subtypes of EBS are the focus of this GeneReview: EBS, localized (EBS-loc; previously known as Weber-Cockayne type). EBS, generalized intermediate (EBS-gen intermed; previously known as Koebner type). EBS-with mottled pigmentation (EBS-MP). EBS, generalized severe (EBS-gen sev; previously known as Dowling-Meara type). The phenotypes for these subtypes range from relatively mild blistering of the hands and feet to more generalized blistering, which can be fatal. In EBS-loc, blisters are rarely present or minimal at birth and may occur on the knees and shins with crawling or on the feet at approximately age 18 months; some individuals manifest the disease in adolescence or early adulthood. Blisters are usually confined to the hands and feet, but can occur anywhere if trauma is significant. In EBS, gen intermed, blisters may be present at birth or develop within the first few months of life. Involvement is more widespread than in EBS-loc, but generally milder than in EBS-gen sev. In EBS-MP, skin fragility is evident at birth and clinically indistinguishable from EBS-gen sev; over time, progressive brown pigmentation interspersed with hypopigmented spots develops on the trunk and extremities, with the pigmentation disappearing in adult life. Focal palmar and plantar hyperkeratoses may occur. In EBS-gen sev, onset is usually at birth; severity varies greatly, both among and within families. Widespread and severe blistering and/or multiple grouped clumps of small blisters are typical and hemorrhagic blisters are common. Improvement occurs during mid- to late childhood. Progressive hyperkeratosis of the palms and soles begins in childhood and may be the major complaint of affected individuals in adult life. Nail dystrophy and milia are common. Both hyper- and hypopigmentation can occur. Mucosal involvement in EBS-gen sev may interfere with feeding, especially in neonates and infants. Blistering can be severe enough to result in neonatal or infant death. [from GeneReviews]

MedGen UID:
86896
Concept ID:
C0079298
Disease or Syndrome
7.

Central

Applies to an abnormality that is located close to the median plane or midline of the body or of the referenced structure. [from HPO]

MedGen UID:
59958
Concept ID:
C0205099
Spatial Concept
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