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Results: 1 to 20 of 49

1.

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
2.

Microdeletion

MedGen UID:
490103
Concept ID:
CN169862
Disease or Syndrome
3.

17q21.31 microdeletion syndrome

The KANSL1-related intellectual disability syndrome is characterized by developmental delay/intellectual disability, neonatal/childhood hypotonia, dysmorphisms, congenital malformations, and behavioral features. Global psychomotor developmental delay is noted in all individuals from an early age. The majority of individuals with the KANSL1-related intellectual disability syndrome function in the mild to moderate range of intellectual disability. Other findings include epilepsy (55%), congenital heart defects (39%), renal and urologic anomalies (37%), and cryptorchidism (71% of males). Behavior in most is described as friendly, amiable, and cooperative. [from GeneReviews]

MedGen UID:
355853
Concept ID:
C1864871
Disease or Syndrome
4.

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
5.

Acetylation

Formation of an acetyl derivative. (Stedman, 25th ed) [from MeSH]

MedGen UID:
7840
Concept ID:
C0001038
Molecular Function
6.

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
7.

Lysine

an essential amino acid [from CHV]

MedGen UID:
7421
Concept ID:
C0024337
Pharmacologic Substance
8.

Intellectual disability

MedGen UID:
334384
Concept ID:
C1843367
Finding
9.

Multisystem disorder

MedGen UID:
107853
Concept ID:
C0559758
Disease or Syndrome
10.

Disability

A person becomes a claimant under a disability income insurance policy or a disability rehabilitation program because of a health condition or injury which limits the person's ability to earn an income or function without institutionalization.  [from HL7]

MedGen UID:
66657
Concept ID:
C0231170
Finding
11.

Muscle hypotonia

A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching. [from MeSH]

MedGen UID:
10133
Concept ID:
C0026827
Sign or Symptom
12.

Mental deficiency

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

Disease Attributes

Clinical characteristics of disease or illness. [from MeSH]

MedGen UID:
199876
Concept ID:
C0752357
Disease or Syndrome
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:
138165
Concept ID:
C0376338
16.

MedGen UID:
115903
Concept ID:
C0231337
17.

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
18.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
19.

Mental Disorders Diagnosed in Childhood

Those psychiatric disorders usually first diagnosed in infancy, childhood, or adolescence. These disorders can also be first diagnosed during other life stages. [from MeSH]

MedGen UID:
101230
Concept ID:
C0525040
Mental or Behavioral Dysfunction
20.

Mutagenesis Process

Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS. [from MeSH]

MedGen UID:
86969
Concept ID:
C0079866
Molecular Function

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