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Items: 1 to 20 of 32

1.

Erosion lesion

An eating away or breakdown of any type of external or internal human tissue including but not limited to skin, teeth, mucosa, or somatic, which involves only the outer tissue layer. When tissue surrounds an implanted device, the tissue breakdown may result in migration and loss of the implant material and may result in further complications such as infection or abscess. [from NCI]

MedGen UID:
409521
Concept ID:
C1959609
Pathologic Function
2.

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_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
3.

Lesch-Nyhan syndrome

Lesch-Nyhan syndrome is characterized by motor dysfunction that resembles cerebral palsy, cognitive and behavioral disturbances, and uric acid overproduction (hyperuricemia). The most common presenting features, hypotonia and developmental delay, are evident by age three to six months. Affected children are delayed in sitting and most never walk. Within the first few years, extrapyramidal involvement (e.g., dystonia, choreoathetosis, opisthotonos) and pyramidal involvement (e.g., spasticity, hyperreflexia, extensor plantar reflexes) become evident. Cognitive impairment and behavioral disturbances emerge between ages two and three years. Persistent self-injurious behavior (biting the fingers, hands, lips, and cheeks; banging the head or limbs) is a hallmark of the disease. Overproduction of uric acid may lead to deposition of uric acid crystals or calculi in the kidneys, ureters, or bladder. Gouty arthritis may occur later in the disease. Related disorders with less severe manifestations include hyperuricemia with neurologic dysfunction but no self-injurious behavior and hyperuricemia alone, sometimes with acute renal failure. [from GeneReviews]

MedGen UID:
9721
Concept ID:
C0023374
Disease or Syndrome
4.

Consideration

Careful thought or deliberation. [from NCI]

MedGen UID:
810608
Concept ID:
C0518609
Finding
5.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
6.

Clinical finding

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

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
7.

Intellectual 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 disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) [from MeSH]

MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
8.

X-linked hereditary disease

Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases. [from MeSH]

MedGen UID:
222910
Concept ID:
C1138434
Disease or Syndrome
9.

Mental deficiency

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
214593
Concept ID:
C0917816
Mental or Behavioral Dysfunction
10.

Mental Retardation, X-Linked

A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS). [from MeSH]

MedGen UID:
211749
Concept ID:
C1136249
Disease or Syndrome
11.

Genomic Instability

An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional. [from MeSH]

MedGen UID:
182518
Concept ID:
C0919532
Cell or Molecular Dysfunction
12.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
13.

Brain Diseases, Metabolic, Inborn

Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero. [from MeSH]

MedGen UID:
156005
Concept ID:
C0752109
Disease or Syndrome
14.

Heredodegenerative Disorders, Nervous System

Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems. [from MeSH]

MedGen UID:
155945
Concept ID:
C0751870
Disease or Syndrome
15.

DNA Methylation

The process by which methyl groups are added to nucleotides in genomic DNA. [from NCI]

MedGen UID:
138191
Concept ID:
C0376452
Molecular Function
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.

Disorder of purine and pyrimidine metabolism

Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero. [from MeSH]

MedGen UID:
48263
Concept ID:
C0034139
Disease or Syndrome
18.

Nutritional and Metabolic Diseases

A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. [from MeSH]

MedGen UID:
45164
Concept ID:
C0028715
Disease or Syndrome
19.

Methylation

The covalent chemical or biochemical addition of a methyl group(s) to a compound. (NCI) [from NCI]

MedGen UID:
44400
Concept ID:
C0025723
Molecular Function
20.

Metabolic disease

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. There are different groups of disorders. Some affect the breakdown of amino acids, carbohydrates, or lipids. Another group, mitochondrial diseases, affects the parts of the cells that produce the energy. You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example. .  [from MedlinePlus]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
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