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Results: 1 to 20 of 34

1.

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. [from HPO]

MedGen UID:
505479
Concept ID:
CN002886
Finding
2.

Error occurred: cannot get document summary

ID:
449624

3.

Error occurred: cannot get document summary

ID:
447699

4.

Congenital myopathy

MedGen UID:
124381
Concept ID:
C0270960
Congenital Abnormality
5.

Neonatal hemochromatosis

Neonatal hemochromatosis (NH) is characterized by hepatic failure in the newborn period and heavy iron staining in the liver. In addition, there is marked siderosis of extrahepatic tissues, including the heart and pancreas (Driscoll et al., 1988). Whitington (2007) postulated that some cases of neonatal hemochromatosis result from maternal alloimmunity directed at the fetal liver, and therefore do not represent an inherited mendelian disorder. Other causes may result from metabolic disease or perinatal infection. In particular, he commented that the disorder is not related to the family of inherited liver diseases that fall under the classification of hereditary hemochromatosis (see, e.g., 235200). Whitington (2007) proposed the term 'congenital alloimmune hepatitis.' In the past, the disorder has loosely been labeled 'neonatal hepatitis' and 'giant cell hepatitis,' which are pathologic findings in the liver representing a common response to a variety of insults, including cholestatic disorders and infection, among others (Fawaz et al., 1975; Knisely et al., 1987; Kelly et al., 2001). [from OMIM]

MedGen UID:
82768
Concept ID:
C0268059
Disease or Syndrome
6.

Myopathy

Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis. . Causes of muscle disorders include: -Injury or overuse, such as sprains or strains, cramps or tendinitis . -A genetic disorder, such as muscular dystrophy. -Some cancers. -Inflammation, such as myositis. -Diseases of nerves that affect muscles. -Infections. -Certain medicines. Sometimes the cause is not known.  [from MedlinePlus]

MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
7.

Murine

MedGen UID:
108834
Concept ID:
C0591833
Pharmacologic Substance
8.

Epidermal growth factor

A 6-kDa polypeptide growth factor initially discovered in mouse submaxillary glands. Human epidermal growth factor was originally isolated from urine based on its ability to inhibit gastric secretion and called urogastrone. EPIDERMAL GROWTH FACTOR exerts a wide variety of biological effects including the promotion of proliferation and differentiation of mesenchymal and epithelial cells. [from MeSH]

MedGen UID:
66867
Concept ID:
C0242275
Pharmacologic Substance
9.

Scoliosis deformity of spine

Scoliosis causes a sideways curve of your backbone, or spine. These curves are often S- or C-shaped. Scoliosis is most common in late childhood and the early teens, when children grow fast. Girls are more likely to have it than boys. It can run in families. Symptoms include leaning to one side and having uneven shoulders and hips. Doctors use your medical and family history, a physical exam, and imaging tests to diagnose scoliosis. Treatment depends on your age, how much more you're like to grow, how much curving there is, and whether the curve is temporary or permanent. People with mild scoliosis might only need checkups to see if the curve is getting worse. Others might need to wear a brace or have surgery. . NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.  [from MedlinePlus]

MedGen UID:
11348
Concept ID:
C0036439
Anatomical Abnormality
10.

Disease

Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [from NCI]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
11.

disease

MedGen UID:
798428
Concept ID:
CN204926
Disease or Syndrome
12.

Flexion contracture

A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. [from HPO]

MedGen UID:
504817
Concept ID:
CN001256
Finding
13.

Error occurred: cannot get document summary

ID:
472356

14.

Scoliosis

The presence of an abnormal lateral curvature of the spine. [from HPO]

MedGen UID:
427922
Concept ID:
CN002409
Finding
15.

Weakness

The property of lacking physical or mental strength; liability to failure under pressure or stress or strain. (WordNet) [from NCI]

MedGen UID:
362950
Concept ID:
C1883552
Sign or Symptom
16.

Reading (datum presentation)

A datum that is presented to a user by a meter or similar instrument. [from NCI]

MedGen UID:
312545
Concept ID:
C1705179
Finding
17.

Disease Response

The pathologic and/or clinical changes that result from treatment. The changes may include eradication of detectable disease, stabilization of disease, or disease progression. [from NCI]

MedGen UID:
309976
Concept ID:
C1704632
Finding
18.

Respiratory insufficiency

MedGen UID:
155440
Concept ID:
C0748358
Finding
19.

Impairment

A loss of part or all of a physical or mental ability, such as the ability to see, walk, or learn. [from NCI]

MedGen UID:
151925
Concept ID:
C0684336
Pathologic Function
20.

Autosomal recessive inheritance

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). [from NCI]

MedGen UID:
141025
Concept ID:
C0441748

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