Display Settings:

Format
Items per page

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Results: 1 to 20 of 41

1.

Reducing-body myopathy

MedGen UID:
543081
Concept ID:
C0270970
Disease or Syndrome
2.

Myopathy

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

MedGen UID:
505479
Concept ID:
CN002886
Finding
3.

Error occurred: cannot get document summary

ID:
449624

4.

Familial hemophagocytic lymphohistiocytosis

Familial hemophagocytic lymphohistiocytosis (FHL) is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes manifesting as acute illness with prolonged fever, cytopenias, and hepatosplenomegaly. Onset is typically within the first months or years of life and, on occasion, in utero, although later childhood or adult onset is more common than previously suspected. Neurologic abnormalities may be present initially or may develop later; they may include increased intracranial pressure, irritability, neck stiffness, hypotonia, hypertonia, convulsions, cranial nerve palsies, ataxia, hemiplegia, quadriplegia, blindness, and coma. Rash and lymphadenopathy are less common. Other findings include liver dysfunction and bone marrow hemophagocytosis. The median survival of children with typical FHL, without treatment, is less than two months; progression of hemophagocytic lymphohistiocytosis and infection account for the majority of deaths in untreated individuals. [from GeneReviews]

MedGen UID:
78797
Concept ID:
C0272199
Disease or Syndrome
5.

Myopathy

Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE. [from MeSH]

MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
6.

Respiratory failure

respiratory function fails to maintain adequate oxygen supply and carbon dioxide removal. [from CRISP]

MedGen UID:
257837
Concept ID:
C1145670
Disease or Syndrome
7.

Zinc

A metallic element of atomic number 30 and atomic weight 65.38. It is a necessary trace element in the diet, forming an essential part of many enzymes, and playing an important role in protein synthesis and in cell division. Zinc deficiency is associated with ANEMIA, short stature, HYPOGONADISM, impaired WOUND HEALING, and geophagia. It is known by the symbol Zn. [from MeSH]

MedGen UID:
22752
Concept ID:
C0043481
Pharmacologic Substance
8.

Scoliosis

An appreciable lateral deviation in the normally straight vertical line of the spine. (Dorland, 27th ed) [from MeSH]

MedGen UID:
11348
Concept ID:
C0036439
Anatomical Abnormality
9.

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
10.

Histidine

An essential amino acid that is required for the production of HISTAMINE [from CHV]

MedGen UID:
5564
Concept ID:
C0019602
Pharmacologic Substance
11.

Error occurred: cannot get document summary

ID:
775793

12.

Detected

MedGen UID:
617726
Concept ID:
C0442726
Finding
13.

Respiratory failure

A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. [from HPO]

MedGen UID:
505385
Concept ID:
CN002603
Finding
14.

Rigidity

Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. [from HPO]

MedGen UID:
505075
Concept ID:
CN001866
Finding
15.

Weakness

MedGen UID:
472356
Concept ID:
C2364118
Finding
16.

Scoliosis

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

MedGen UID:
427922
Concept ID:
CN002409
Finding
17.

Mild

The second level of severity in an ordered list based on a five-level scale of minimal, mild, moderate, marked, and severe. [from NCI]

MedGen UID:
422477
Concept ID:
C2945599
18.

Congenital onset

MedGen UID:
382231
Concept ID:
C2673956
Finding
19.

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
20.

Spinal rigidity

MedGen UID:
346721
Concept ID:
C1858025
Finding

Display Settings:

Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...