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Items: 1 to 20 of 44

1.

N-Acetylglucosamine

The N-acetyl derivative of glucosamine. [from MeSH]

MedGen UID:
1709
Concept ID:
C0001056
Organic Chemical; Pharmacologic Substance
2.

En(a-) phenotype

MedGen UID:
714462
Concept ID:
C1292209
Finding
3.

Mucolipidosis

A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations. [from NCI]

MedGen UID:
7731
Concept ID:
C0026697
Disease or Syndrome
4.

Mannose

A hexose or fermentable monosaccharide and isomer of glucose from manna, the ash Fraxinus ornus and related plants. (From Grant & Hackh's Chemical Dictionary, 5th ed & Random House Unabridged Dictionary, 2d ed) [from MeSH]

MedGen UID:
7465
Concept ID:
C0024742
Organic Chemical; Pharmacologic Substance
5.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
6.

Mucolipidosis type III

MedGen UID:
830932
Concept ID:
CN205321
Disease or Syndrome
7.

Mild

Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
268697
Concept ID:
C1513302
Finding
8.

Autosomal recessive inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
9.

Stiffness

MedGen UID:
98101
Concept ID:
C0427008
Sign or Symptom
10.

Progressive

Advancing in extent or severity. [from NCI]

MedGen UID:
64400
Concept ID:
C0205329
Functional Concept
11.

Joint stiffness

A sensation of discomfort and tightness while moving a joint. Typically there is decreased joint range of motion. Causes include arthritis, joint overuse, joint injury, and the aging process. [from NCI]

MedGen UID:
56403
Concept ID:
C0162298
Sign or Symptom
12.

Disorder of lysosomal enzyme

A group of autosomal recessive or X-linked inherited metabolic disorders caused by defects in the function of the lysosomes. Signs and symptoms include hepatomegaly, splenomegaly, nervous system manifestations, skeletal abnormalities, and mental deterioration. Representative examples include Gaucher disease, Niemann-Pick disease, Wolman disease, and Fabry disease. [from NCI]

MedGen UID:
43098
Concept ID:
C0085078
Disease or Syndrome
13.

Swelling

Enlargement; expansion in size; sign of inflammation [from NCI]

MedGen UID:
21042
Concept ID:
C0038999
Finding
14.

Phosphate

Inorganic salts of phosphoric acid. [from MeSH]

MedGen UID:
18434
Concept ID:
C0031603
Inorganic Chemical; Pharmacologic Substance
15.

Pseudo-Hurler polydystrophy

Mucolipidosis alpha/beta (ML III alpha/beta; pseudo-Hurler polydystrophy), a slowly progressive disorder with clinical onset at approximately age three years, is characterized by slow growth rate and subnormal stature; radiographic evidence of mild to moderate dysostosis multiplex; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. If present, organomegaly is mild. Pain from osteoporosis that is clinically and radiologically apparent in childhood becomes more severe from adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. [from GTR]

MedGen UID:
10988
Concept ID:
C0033788
Disease or Syndrome
16.

Mucopolysaccharide

Heteropolysaccharides which contain an N-acetylated hexosamine in a characteristic repeating disaccharide unit. The repeating structure of each disaccharide involves alternate 1,4- and 1,3-linkages consisting of either N-acetylglucosamine (see ACETYLGLUCOSAMINE) or N-acetylgalactosamine (see ACETYLGALACTOSAMINE). [from MeSH]

MedGen UID:
9061
Concept ID:
C0017973
Biologically Active Substance; Organic Chemical; Pharmacologic Substance
17.

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
18.

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
19.

Lysosomal Storage Diseases, Nervous System

A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes. [from MeSH]

MedGen UID:
148380
Concept ID:
C0751738
Disease or Syndrome
20.

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
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