From HPO
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Coma- MedGen UID:
- 1054
- •Concept ID:
- C0009421
- •
- Disease or Syndrome
Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli.
Fever- MedGen UID:
- 5169
- •Concept ID:
- C0015967
- •
- Sign or Symptom
Body temperature elevated above the normal range.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Hypoglycemia- MedGen UID:
- 6979
- •Concept ID:
- C0020615
- •
- Disease or Syndrome
A decreased concentration of glucose in the blood.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Spasticity- MedGen UID:
- 7753
- •Concept ID:
- C0026838
- •
- Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Myoclonus- MedGen UID:
- 10234
- •Concept ID:
- C0027066
- •
- Sign or Symptom
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
Pallor- MedGen UID:
- 10547
- •Concept ID:
- C0030232
- •
- Finding
Abnormally pale skin.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Vomiting- MedGen UID:
- 12124
- •Concept ID:
- C0042963
- •
- Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
Apathy- MedGen UID:
- 39083
- •Concept ID:
- C0085632
- •
- Mental or Behavioral Dysfunction
An emotional state of indifference characterized by a lack of interest or concern.
EEG abnormality- MedGen UID:
- 56235
- •Concept ID:
- C0151611
- •
- Finding
Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp.
Metabolic acidosis- MedGen UID:
- 65117
- •Concept ID:
- C0220981
- •
- Pathologic Function
Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.
Hyperammonemia- MedGen UID:
- 113136
- •Concept ID:
- C0220994
- •
- Disease or Syndrome
An increased concentration of ammonia in the blood.
Organic aciduria- MedGen UID:
- 66037
- •Concept ID:
- C0241775
- •
- Finding
Excretion of non-amino organic acids in urine.
Glutaric aciduria- MedGen UID:
- 75695
- •Concept ID:
- C0268594
- •
- Disease or Syndrome
An increased concentration of glutaric acid in the urine.
Global developmental delay- MedGen UID:
- 107838
- •Concept ID:
- C0557874
- •
- Finding
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.
Decreased prothrombin time- MedGen UID:
- 154375
- •Concept ID:
- C0580413
- •
- Finding
Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula
Hyperuricemia- MedGen UID:
- 149260
- •Concept ID:
- C0740394
- •
- Disease or Syndrome
An abnormally high level of uric acid in the blood.
Abnormal cerebral white matter morphology- MedGen UID:
- 181756
- •Concept ID:
- C0948163
- •
- Pathologic Function
An abnormality of the cerebral white matter.
Decreased circulating carnitine concentration- MedGen UID:
- 222973
- •Concept ID:
- C1142132
- •
- Finding
A decreased concentration of carnitine in the blood.
3-Methylglutaric aciduria- MedGen UID:
- 463302
- •Concept ID:
- C3151952
- •
- Finding
An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Excessive daytime somnolence- MedGen UID:
- 1635612
- •Concept ID:
- C4551761
- •
- Sign or Symptom
A state of abnormally strong desire for sleep during the daytime.
Increased level of 3-hydroxy-3-methylglutaric acid in urine- MedGen UID:
- 1647053
- •Concept ID:
- C4703617
- •
- Finding
An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine.
Increased level of hippuric acid in urine- MedGen UID:
- 1640306
- •Concept ID:
- C4703632
- •
- Finding
An increase in the level of hippuric acid in the urine.