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Items: 1 to 20 of 59

1.

Episodic

Applied to a sign, symptom, or other manifestation that occurs at least twice and potentially multiple times but separated by an interval in whichthe sign, symptom, or manifestation is not present. [from HPO]

MedGen UID:
910017
Concept ID:
CN240220
Organism Attribute
2.

Hemolytic anemia

A type of anemia caused by premature destruction of red blood cells (hemolysis). [from HPO]

MedGen UID:
504983
Concept ID:
CN001698
Finding
3.

Anemia

A laboratory test result demonstrating decreased levels of hemoglobin in a biological specimen. [from NCI]

MedGen UID:
56401
Concept ID:
C0162119
Finding
4.

Increased muscle fatiguability

A state arrived at through prolonged and strong contraction of a muscle. Studies in athletes during prolonged submaximal exercise have shown that muscle fatigue increases in almost direct proportion to the rate of muscle glycogen depletion. Muscle fatigue in short-term maximal exercise is associated with oxygen lack and an increased level of blood and muscle lactic acid, and an accompanying increase in hydrogen-ion concentration in the exercised muscle. [from MeSH]

MedGen UID:
116713
Concept ID:
C0242979
Finding
5.

enzyme activity

Catalysis of a biochemical reaction at physiological temperatures. In biologically catalyzed reactions, the reactants are known as substrates, and the catalysts are naturally occurring macromolecular substances known as enzymes. Enzymes possess specific binding sites for substrates, and are usually composed wholly or largely of protein, but RNA that has catalytic activity (ribozyme) is often also regarded as enzymatic. [ISBN:0198506732] [from GO]

MedGen UID:
66218
Concept ID:
C0243102
Molecular Function
6.

Fatigue

A subjective feeling of tiredness characterized by a lack of energy and motivation. [from HPO]

MedGen UID:
41971
Concept ID:
C0015672
Sign or Symptom
7.

Seizures

Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder." [from MeSH]

MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
8.

Rhabdomyolysis

A clinical syndrome resulting from direct or indirect muscle injury and subsequent release of myoglobin into the plasma. [from NCI]

MedGen UID:
19775
Concept ID:
C0035410
Pathologic Function
9.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
10.

Diagnosis

The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. [from MeSH]

MedGen UID:
8354
Concept ID:
C0011900
Finding
11.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
892935
Concept ID:
C4020875
Pathologic Function
12.

Delay

MedGen UID:
879911
Concept ID:
CN235300
Finding
13.

Seizures

MedGen UID:
851405
Concept ID:
CN232558
Disease or Syndrome
14.

Indicated

MedGen UID:
731837
Concept ID:
C1444656
Finding
15.

Dystrophy

a degenerative disorder [from CHV]

MedGen UID:
569248
Concept ID:
C0333606
Pathologic Function
16.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
17.

Rhabdomyolysis

Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. [from HPO]

MedGen UID:
505480
Concept ID:
CN002889
Finding
18.

Retinal dystrophy

MedGen UID:
504495
Concept ID:
CN000522
Finding
19.

Cognitive delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
351243
Concept ID:
C1864897
Finding
20.

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
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