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Items: 1 to 20 of 41

1.

Temporal pattern

The speed at which disease manifestations appear and develop. [from HPO]

MedGen UID:
866850
Concept ID:
C4021204
Temporal Concept
2.

Muscle weakness

Reduced strength of muscles. [from HPO]

MedGen UID:
811372
Concept ID:
C3714552
Sign or Symptom
3.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
4.

Null Allele

A mutation that results in either no gene product or the absence of function at the phenotypic level. [from NCI_NCI-GLOSS]

MedGen UID:
457663
Concept ID:
C2985437
Cell or Molecular Dysfunction
5.

Emotional

Excessively affected by emotion. [from NCI]

MedGen UID:
167260
Concept ID:
C0849912
Finding
6.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
7.

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
8.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
9.

Distress

A state of physiological or psychological stress that cannot be compensated for by normal adaptive measures. [from NCI]

MedGen UID:
68535
Concept ID:
C0231303
Finding
10.

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
11.

Language impairment

A category of disorders characterized by an impairment in the development of an individual's language capabilities, which is in contrast to his/her non-verbal intellect. [from NCI]

MedGen UID:
44069
Concept ID:
C0023015
Mental or Behavioral Dysfunction
12.

Speech and language disorder

MedGen UID:
9673
Concept ID:
C0023009
Disease or Syndrome
13.

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
14.

Diagnosis, Psychiatric

MedGen UID:
138165
Concept ID:
C0376338
Mental or Behavioral Dysfunction
15.

Senility

MedGen UID:
115903
Concept ID:
C0231337
Finding
16.

Neurobehavioral Manifestations

Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information. [from MeSH]

MedGen UID:
105653
Concept ID:
C0525041
Sign or Symptom
17.

Perceptual Disorder

Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body. [from MeSH]

MedGen UID:
45392
Concept ID:
C0030975
Mental or Behavioral Dysfunction
18.

Cognitive disorder

A category of psychiatric disorders which are characterized by a deficit in cognition or memory. [from NCI]

MedGen UID:
40371
Concept ID:
C0009241
Mental or Behavioral Dysfunction
19.

Unspecified encephalopathy

A functional and/or structural disorder of the brain caused by diseases (e.g. liver disease, kidney disease), medications, chemicals, and injuries. [from NCI]

MedGen UID:
39314
Concept ID:
C0085584
Disease or Syndrome
20.

Clinical finding

Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from MeSH]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
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