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Items: 10

1.

Skin peeling disorder

MedGen UID:
590340
Concept ID:
C0406357
Disease or Syndrome
2.

Ehlers-Danlos syndrome progeroid type

Ehlers-Danlos syndrome spondylodysplastic type 1 is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing. Significant developmental delay is not a consistent feature (Guo et al., 2013). Genetic Heterogeneity of Ehlers-Danlos Syndrome, Spondylodysplastic Type See EDSSPD2 (615349), caused by mutation in the B3GALT6 gene (615291), and EDSSPD3 (612350), caused by mutation in the SCL39A13 gene (608735). [from GTR]

MedGen UID:
358390
Concept ID:
C1869122
Disease or Syndrome
3.

Potocki-Shaffer syndrome

Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses (168500), and biparietal foramina (605957) (summary by Swarr et al., 2010). [from GTR]

MedGen UID:
318657
Concept ID:
C1832588
Disease or Syndrome
4.

Pigment dispersion syndrome

MedGen UID:
220866
Concept ID:
C1271398
Disease or Syndrome
5.

Dependence

The psychological or physiological need to take a substance in oder to experience its effects or to avoid the effects of its absence. [from NCI]

MedGen UID:
141006
Concept ID:
C0439857
Mental or Behavioral Dysfunction
6.

Pendred syndrome

Pendred syndrome/nonsyndromic enlarged vestibular aqueduct (PDS/NSEVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL) that is usually congenital and often severe to profound (although mild-to-moderate progressive hearing impairment also occurs), vestibular dysfunction, and temporal bone abnormalities (bilateral enlarged vestibular aqueduct with or without cochlear hypoplasia). PDS also includes development of euthyroid goiter in late childhood to early adulthood whereas NSEVA does not. [from GTR]

MedGen UID:
82890
Concept ID:
C0271829
Disease or Syndrome
7.

Post-traumatic stress disorder

A class of traumatic stress disorders with symptoms that last more than one month. [from MeSH]

MedGen UID:
21345
Concept ID:
C0038436
Mental or Behavioral Dysfunction
8.

Alcohol dependence

A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4) [from MeSH]

MedGen UID:
1801
Concept ID:
C0001973
Mental or Behavioral Dysfunction
9.

Alcohol

A class of compounds where a hydroxyl (OH) group is attached to single bonded hydrocarbons. Alcohols are classified according to the position of the carbon atom with the attached hydroxyl group (i.e. primary alcohols are alcohols with the OH group attached to the primary carbon atom, C1). Uses include solvents, astringents, and anti-infective activity. [from NCI]

MedGen UID:
1400
Concept ID:
C0001975
Organic Chemical; Pharmacologic Substance
10.

Ethyl alcohol

A clear, colorless liquid rapidly absorbed from the gastrointestinal tract and distributed throughout the body. It has bactericidal activity and is used often as a topical disinfectant. It is widely used as a solvent and preservative in pharmaceutical preparations as well as serving as the primary ingredient in ALCOHOLIC BEVERAGES. [from MeSH]

MedGen UID:
186
Concept ID:
C0001962
Organic Chemical; Pharmacologic Substance
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