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Results: 1 to 20 of 50

1.

Hyperuricemia

Excessive URIC ACID or urate in blood as defined by its solubility in plasma at 37 degrees C; greater than 0.42mmol per liter (7.0mg/dL) in men or 0.36mmol per liter (6.0mg/dL) in women. This condition is caused by overproduction of uric acid or impaired renal clearance. Hyperuricemia can be acquired, drug-induced or genetically determined (LESCH-NYHAN SYNDROME). It is associated with HYPERTENSION and GOUT. [from MeSH]

MedGen UID:
149260
Concept ID:
C0740394
Disease or Syndrome
2.

Glycogen storage disease

A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement. [from MeSH]

MedGen UID:
6639
Concept ID:
C0017919
Disease or Syndrome
3.

Storage disease

MedGen UID:
541100
Concept ID:
C0267971
Disease or Syndrome
4.

Hyperuricemia

An abnormally high level of uric acid in the blood. [from HPO]

MedGen UID:
505126
Concept ID:
CN001947
Finding
5.

Muscular hypotonia

Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching. [from HPO]

MedGen UID:
504768
Concept ID:
CN001147
Finding
6.

Growth delay

A deficiency or slowing down of growth pre- and postnatally. [from HPO]

MedGen UID:
500905
Concept ID:
CN001379
Finding
7.

X-linked inheritance

MedGen UID:
66838
Concept ID:
C0241764
8.

Growth retardation

Stature that is smaller than normal as expected for age. [from NCI]

MedGen UID:
56240
Concept ID:
C0151686
Pathologic Function
9.

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
10.

Large liver

Enlargement of the liver. [from MeSH]

MedGen UID:
42428
Concept ID:
C0019209
Sign or Symptom
11.

Glucose

A hexose with an aldehyde group; in which each of the 5 remaining carbons other than the aldehyde group has one hydroxyl group in the R,S,R, and R configuration counting from the first hydroxyl containing carbon next to the aldehyde in the straight chain (Fisher) projection; otherwise all carbons have exclusively hydrogens. Occurs mostly as pyran (6-membered oxygen containing ring or oxane) and rarely as furan (5-membered oxygen containing ring) or straight chain. When glucose forms a ring an additional ""anomeric"" asymmetric carbon is created which is denoted as ""alpha"" or ""beta"". For isomers see http://en.wikipedia.org/wiki/Glucose. [from NCI]

MedGen UID:
42238
Concept ID:
C0017725
Pharmacologic Substance
12.

Male gender

A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. (NCI) [from NCI]

MedGen UID:
7446
Concept ID:
C0024554
Finding
13.

Arthritis

If you feel pain and stiffness in your body or have trouble moving around, you might have arthritis. Most kinds of arthritis cause pain and swelling in your joints. Joints are places where two bones meet, such as your elbow or knee. Over time, a swollen joint can become severely damaged. Some kinds of arthritis can also cause problems in your organs, such as your eyes or skin. Types of arthritis include: -Osteoarthritis is the most common type of arthritis. It's often related to aging or to an injury. -Autoimmune arthritis happens when your body's immune system attacks healthy cells in your body by mistake. Rheumatoid arthritis is the most common form of this kind of arthritis. Juvenile rheumatoid arthritis is a form of the disease that happens in children. -Infectious arthritis is an infection that has spread from another part of the body to the joint. -Psoriatic arthritis affects people with psoriasis. -Gout is a painful type of arthritis that happens when too much uric acid builds up in the body. It often starts in the big toe. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.  [from MedlinePlus]

MedGen UID:
2043
Concept ID:
C0003864
Disease or Syndrome
14.

Weakness - general

The property of lacking physical strength. [from NCI]

MedGen UID:
811372
Concept ID:
C3714552
Sign or Symptom
15.

Error occurred: cannot get document summary

ID:
775793

16.

Hepatomegaly

Abnormally increased size of the liver. [from HPO]

MedGen UID:
505165
Concept ID:
CN002031
Finding
17.

Gout

Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. [from HPO]

MedGen UID:
505046
Concept ID:
CN001808
Finding
18.

Arthritis

Inflammation of a joint. [from HPO]

MedGen UID:
504815
Concept ID:
CN001254
Finding
19.

Error occurred: cannot get document summary

ID:
472356

20.

X-linked recessive inheritance

A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. [from HPO]

MedGen UID:
425042
Concept ID:
CN001297

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