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Results: 1 to 20 of 57

1.

Haploinsufficiency

A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient. [from MeSH]

MedGen UID:
424691
Concept ID:
C2936267
Cell or Molecular Dysfunction
2.

Seizure

the most dramatic type of seizure [from CHV]

MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
3.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
4.

Intellectual functioning disability

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabiled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) [from MeSH]

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
5.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
504774
Concept ID:
CN001157
Finding
6.

Microdeletion

MedGen UID:
490103
Concept ID:
CN169862
Disease or Syndrome
7.

Seizures

MedGen UID:
409523
Concept ID:
C1959629
Finding
8.

Intellectual disability

MedGen UID:
334384
Concept ID:
C1843367
Finding
9.

Thymic epithelial neoplasm

MedGen UID:
220416
Concept ID:
C1266101
Neoplastic Process
10.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
11.

Developmental delay

Delays in any or all areas including cognitive, social, language, sensory, and emotional development. [from PSY]

MedGen UID:
98410
Concept ID:
C0424605
Mental or Behavioral Dysfunction
12.

Mental deficiency

MedGen UID:
214593
Concept ID:
C0917816
Mental or Behavioral Dysfunction
13.

Partial seizure

Partial seizure. [from NCI]

MedGen UID:
199670
Concept ID:
C0751495
Sign or Symptom
14.

A situation where one member (allele) of a gene pair is lost (LOSS OF HETEROZYGOSITY) or amplified. [from MeSH]

MedGen UID:
168420
Concept ID:
C0887935
15.

MedGen UID:
155571
Concept ID:
C0751496
16.

MedGen UID:
148227
Concept ID:
C0751056
17.

A generalized tonic-clinic seizure, characterized by loss of consciousness. This type of seizure may be preceded by an aura and is frequently followed by a period of confusion and lethargy (post-ictal state). [from NCI]

MedGen UID:
141670
Concept ID:
C0494475
18.

MedGen UID:
140831
Concept ID:
C0422853
19.

MedGen UID:
140830
Concept ID:
C0422850
20.

MedGen UID:
138165
Concept ID:
C0376338

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