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Items: 15

1.

Protein Cleavage

Protein Cleavage involves hydrolysis by proteolytic enzymes of specific peptide bond(s), forming smaller polypeptides in the target protein during maturation or modification of functional activity. [from NCI]

MedGen UID:
108934
Concept ID:
C0597304
Molecular Function
2.

Peeling skin syndrome

Peeling skin syndrome (PSS) refers to a group of rare autosomal recessive forms of ichthyosis (see this term) that is characterized clinically by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution (generalized PSS type A (non inflammatory) or B (inflammatory)) (see these terms). Some cases remain difficult to classify, suggesting that there could be additional subtypes of PSS. [from ORDO]

MedGen UID:
1434713
Concept ID:
CN206024
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 OMIM]

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

Alzheimer disease

Alzheimer disease (AD) is characterized by dementia that typically begins with subtle and poorly recognized failure of memory and slowly becomes more severe and, eventually, incapacitating. Other common findings include confusion, poor judgment, language disturbance, agitation, withdrawal, and hallucinations. Occasionally, seizures, Parkinsonian features, increased muscle tone, myoclonus, incontinence, and mutism occur. Death usually results from general inanition, malnutrition, and pneumonia. The typical clinical duration of the disease is eight to ten years, with a range from one to 25 years. Approximately 25% of all AD is familial (i.e., =2 persons in a family have AD) of which approximately 95% is late onset (age >60-65 years) and 5% is early onset (age <65 years). [from GeneReviews]

MedGen UID:
1853
Concept ID:
C0002395
Disease or Syndrome
5.

Neurocognitive disorder

A disorder characterised by a decline primarily in intellectual function due to disease of the brain caused by a variety of acquired conditions such as cerebrovascular disease, Alzheimer's disease, infections, adverse drug reactions and trauma. [from SNOMEDCT_US]

MedGen UID:
873945
Concept ID:
C4041080
Mental or Behavioral Dysfunction
6.

Tauopathy

MedGen UID:
181880
Concept ID:
C0949664
Disease or Syndrome
7.

Diagnosis, Psychiatric

MedGen UID:
138165
Concept ID:
C0376338
Mental or Behavioral Dysfunction
8.

Rare neurodegenerative disease

MedGen UID:
101195
Concept ID:
C0524851
Disease or Syndrome
9.

Dementia

MedGen UID:
99229
Concept ID:
C0497327
Finding; Mental or Behavioral Dysfunction
10.

Unspecified encephalopathy

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
11.

Psychoses, Traumatic

MedGen UID:
19557
Concept ID:
C0033943
Mental or Behavioral Dysfunction
12.

Disorder of brain

A non-neoplastic or neoplastic disorder that affects the brain. [from NCI]

MedGen UID:
14214
Concept ID:
C0006111
Disease or Syndrome
13.

Mental disorder

MedGen UID:
14047
Concept ID:
C0004936
Mental or Behavioral Dysfunction
14.

Presenile dementia

The presence of dementia in an individual younger than age sixty five. [from NCI]

MedGen UID:
8278
Concept ID:
C0011265
Mental or Behavioral Dysfunction
15.

Morphological abnormality of the central nervous system

MedGen UID:
3306
Concept ID:
C0007682
Disease or Syndrome
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