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Results: 1 to 20 of 37

1.

Deficiency of malonyl-CoA decarboxylase

Malonyl-CoA decarboxylase deficiency is an uncommon inherited metabolic disease. The characteristic phenotype is variable, but may include developmental delay in early childhood, seizures, hypotonia, diarrhea, vomiting, metabolic acidosis, hypoglycemia, ketosis, abnormal urinary compounds, lactic acidemia, and hypertrophic cardiomyopathy (Sweetman and Williams, 2001). [from OMIM]

MedGen UID:
91001
Concept ID:
C0342793
Disease or Syndrome
2.

Metabolic acidosis

A condition in which the blood is too acidic. It may be caused by severe illness or sepsis (bacteria in the bloodstream). [from NCI]

MedGen UID:
65117
Concept ID:
C0220981
Pathologic Function
3.

Seizure

Seizures are symptoms of a brain problem. They happen because of sudden, abnormal electrical activity in the brain. When people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. Not all seizures cause convulsions. There are many types of seizures and some have mild symptoms. Seizures fall into two main groups. Focal seizures, also called partial seizures, happen in just one part of the brain. Generalized seizures are a result of abnormal activity on both sides of the brain. . Most seizures last from 30 seconds to 2 minutes and do not cause lasting harm. However, it is a medical emergency if seizures last longer than 5 minutes or if a person has many seizures and does not wake up between them. Seizures can have many causes, including medicines, high fevers, head injuries and certain diseases. People who have recurring seizures due to a brain disorder have epilepsy. . NIH: National Institute of Neurological Disorders and Stroke.  [from MedlinePlus]

MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
4.

Vomiting

To eject some or all of the contents of the stomach through the mouth. [from NCI]

MedGen UID:
12124
Concept ID:
C0042963
Sign or Symptom
5.

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

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
6.

Hypoglycemia

Hypoglycemia means low blood glucose, or blood sugar. Your body needs glucose to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles, and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose. In most people, this raises blood sugar. If it doesn't, you have hypoglycemia, and your blood sugar can be dangerously low. Signs include : -Hunger. -Shakiness. -Dizziness. -Confusion. -Difficulty speaking. -Feeling anxious or weak. In people with diabetes, hypoglycemia is often a side effect of diabetes medicines. Eating or drinking something with carbohydrates can help. If it happens often, your health care provider may need to change your treatment plan. You can also have low blood sugar without having diabetes. Causes include certain medicines or diseases, hormone or enzyme deficiencies, and tumors. Laboratory tests can help find the cause. The kind of treatment depends on why you have low blood sugar. NIH: National Institute of Diabetes and Digestive and Kidney Diseases.  [from MedlinePlus]

MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
7.

Acidosis

An abnormal increase in the acidity of the body's fluids [from CHV]

MedGen UID:
1296
Concept ID:
C0001122
Pathologic Function
8.

Blood glucose decreased

Abnormally low blood sugar. [from NCI]

MedGen UID:
777034
Concept ID:
C0595883
Finding
9.

Vomiting

MedGen UID:
776588
Concept ID:
C2712332
Finding
10.

Hypoglycemia

A decreased concentration of glucose in the blood. [from HPO]

MedGen UID:
505016
Concept ID:
CN001757
Finding
11.

Metabolic acidosis

Acid accumulation or depletion of base in the body due to buildup of metabolic acids. [from HPO]

MedGen UID:
505015
Concept ID:
CN001756
Finding
12.

Acidosis

Abnormal acid accumulation or depletion of base. [from HPO]

MedGen UID:
505014
Concept ID:
CN001755
Finding
13.

Cardiomyopathy

A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. [from HPO]

MedGen UID:
504883
Concept ID:
CN001491
Finding
14.

Intellectual disability, mild

Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. [from HPO]

MedGen UID:
504770
Concept ID:
CN001151
Finding
15.

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
16.

Aciduria

MedGen UID:
488840
Concept ID:
C0278026
Pathologic Function
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.

Seizures

MedGen UID:
409523
Concept ID:
C1959629
Finding
19.

Thyroid hormone plasma membrane transport defect

MedGen UID:
396060
Concept ID:
C1861101
Disease or Syndrome
20.

Cranioosteoarthropathy

MedGen UID:
394824
Concept ID:
C2678439
Disease or Syndrome

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