From HPO
Ketonuria- MedGen UID:
- 56402
- •Concept ID:
- C0162275
- •
- Finding
High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.
Dicarboxylic aciduria- MedGen UID:
- 343550
- •Concept ID:
- C1856432
- •
- Finding
An increased concentration of dicarboxylic acid in the urine.
Ethylmalonic aciduria- MedGen UID:
- 355967
- •Concept ID:
- C1865353
- •
- Finding
The concentration of ethylmalonic acid in the urine, normalized for urine concentration, is above the upper limit of normal.
Increased urine alpha-ketoglutarate concentration- MedGen UID:
- 868516
- •Concept ID:
- C4022915
- •
- Finding
A greater than normal concentration of 2-oxoglutaric acid in the urine.
3-hydroxydicarboxylic aciduria- MedGen UID:
- 870283
- •Concept ID:
- C4024725
- •
- Finding
The concentration of 2-hydroxydicarboxylic acid in the urine, normalized for urine concentration, is above the upper limit of normal.
Congestive heart failure- MedGen UID:
- 9169
- •Concept ID:
- C0018802
- •
- Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Left ventricular hypertrophy- MedGen UID:
- 57442
- •Concept ID:
- C0149721
- •
- Disease or Syndrome
Enlargement or increased size of the heart left ventricle.
Fetal growth restriction- MedGen UID:
- 4693
- •Concept ID:
- C0015934
- •
- Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Liver failure- MedGen UID:
- 88444
- •Concept ID:
- C0085605
- •
- Disease or Syndrome
A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.
Feeding difficulties in infancy- MedGen UID:
- 436211
- •Concept ID:
- C2674608
- •
- Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Congenital sensorineural hearing impairment- MedGen UID:
- 356101
- •Concept ID:
- C1865866
- •
- Disease or Syndrome
A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.
Cerebral edema- MedGen UID:
- 2337
- •Concept ID:
- C0006114
- •
- Pathologic Function
Abnormal accumulation of fluid in the brain.
Encephalopathy- MedGen UID:
- 39314
- •Concept ID:
- C0085584
- •
- Disease or Syndrome
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
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.
Widened subarachnoid space- MedGen UID:
- 375826
- •Concept ID:
- C1846151
- •
- Finding
An increase in size of the anatomic space between the arachnoid membrane and pia mater.
Ventriculomegaly- MedGen UID:
- 480553
- •Concept ID:
- C3278923
- •
- Finding
An increase in size of the ventricular system of the brain.
Elevated brain lactate level by MRS- MedGen UID:
- 868368
- •Concept ID:
- C4022762
- •
- Finding
An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS).
Brain atrophy- MedGen UID:
- 1643639
- •Concept ID:
- C4551584
- •
- Disease or Syndrome
Partial or complete wasting (loss) of brain tissue that was once present.
Abnormality of the coagulation cascade- MedGen UID:
- 604
- •Concept ID:
- C0005779
- •
- Disease or Syndrome
An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators.
Hypoglycemia- MedGen UID:
- 6979
- •Concept ID:
- C0020615
- •
- Disease or Syndrome
A decreased concentration of glucose in the blood.
Elevated circulating creatine kinase concentration- MedGen UID:
- 69128
- •Concept ID:
- C0241005
- •
- Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Hyperprolinemia- MedGen UID:
- 75690
- •Concept ID:
- C0268528
- •
- Disease or Syndrome
An increased concentration of proline in the blood.
Hyper-beta-alaninemia- MedGen UID:
- 75702
- •Concept ID:
- C0268630
- •
- Disease or Syndrome
An increased concentration of alanine in the blood.
Severe lactic acidosis- MedGen UID:
- 374223
- •Concept ID:
- C1839436
- •
- Finding
A severe form of lactic acidemia.
Hyperglutaminemia- MedGen UID:
- 326901
- •Concept ID:
- C1839533
- •
- Finding
An increased concentration of glutamine in the blood.
Elevated circulating hepatic transaminase concentration- MedGen UID:
- 338525
- •Concept ID:
- C1848701
- •
- Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.
Increased serum pyruvate- MedGen UID:
- 376596
- •Concept ID:
- C1849488
- •
- Finding
An increased concentration of pyruvate in the blood.
Elevated circulating dodecanoylcarnitine concentration- MedGen UID:
- 1788992
- •Concept ID:
- C5539597
- •
- Finding
Concentration of dodecanoylcarnitine (C12:0) in the blood circulation above the upper limit of normal.
Elevated circulating tetradecanoylcarnitine concentration- MedGen UID:
- 1815048
- •Concept ID:
- C5706142
- •
- Finding
Elevated circulating tetradecanoyl concentration.
Setting-sun eye phenomenon- MedGen UID:
- 602082
- •Concept ID:
- C0423128
- •
- Sign or Symptom
An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid.
Decreased activity of mitochondrial complex IV- MedGen UID:
- 866520
- •Concept ID:
- C4020800
- •
- Finding
A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.
- Abnormal cellular phenotype
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the nervous system
- Ear malformation
- Growth abnormality