From HPO
Myalgia- MedGen UID:
- 68541
- •Concept ID:
- C0231528
- •
- Sign or Symptom
Pain in muscle.
Hypertrophic cardiomyopathy- MedGen UID:
- 2881
- •Concept ID:
- C0007194
- •
- Disease or Syndrome
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Cardiomegaly- MedGen UID:
- 5459
- •Concept ID:
- C0018800
- •
- Finding
Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography.
Tricuspid regurgitation- MedGen UID:
- 11911
- •Concept ID:
- C0040961
- •
- Disease or Syndrome
Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium.
Ventricular hypertrophy- MedGen UID:
- 87400
- •Concept ID:
- C0340279
- •
- Disease or Syndrome
Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy.
Pulmonary arterial hypertension- MedGen UID:
- 425404
- •Concept ID:
- C2973725
- •
- Disease or Syndrome
Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position.
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.
Feeding difficulties- MedGen UID:
- 65429
- •Concept ID:
- C0232466
- •
- Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Leukodystrophy- MedGen UID:
- 6070
- •Concept ID:
- C0023520
- •
- Disease or Syndrome
Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.
Mental deterioration- MedGen UID:
- 66713
- •Concept ID:
- C0234985
- •
- Mental or Behavioral Dysfunction
Loss of previously present mental abilities, generally in adults.
Truncal ataxia- MedGen UID:
- 96535
- •Concept ID:
- C0427190
- •
- Sign or Symptom
Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.
Limb ataxia- MedGen UID:
- 196692
- •Concept ID:
- C0750937
- •
- Finding
A kind of ataxia that affects movements of the extremities.
Increased CSF lactate- MedGen UID:
- 257904
- •Concept ID:
- C1167918
- •
- Finding
Increased concentration of lactate in the cerebrospinal fluid.
Undetectable visual evoked potentials- MedGen UID:
- 376697
- •Concept ID:
- C1850069
- •
- Finding
Ventriculomegaly- MedGen UID:
- 480553
- •Concept ID:
- C3278923
- •
- Finding
An increase in size of the ventricular system of the brain.
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Cytochrome C oxidase-negative muscle fibers- MedGen UID:
- 867360
- •Concept ID:
- C4021724
- •
- Finding
An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue.
Lactic acidosis- MedGen UID:
- 1717
- •Concept ID:
- C0001125
- •
- Disease or Syndrome
An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.
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.
Hyperketonemia- MedGen UID:
- 66722
- •Concept ID:
- C0235430
- •
- Disease or Syndrome
An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood.
Hyper-beta-alaninemia- MedGen UID:
- 75702
- •Concept ID:
- C0268630
- •
- Disease or Syndrome
An increased concentration of alanine in the blood.
Increased circulating lactate concentration- MedGen UID:
- 332209
- •Concept ID:
- C1836440
- •
- Finding
Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35).
Hyperammonemia- MedGen UID:
- 1802066
- •Concept ID:
- C5574662
- •
- Laboratory or Test Result
An increased concentration of ammonia in the blood.
Visual loss- MedGen UID:
- 784038
- •Concept ID:
- C3665386
- •
- Finding
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
Cerebral visual impairment- MedGen UID:
- 890568
- •Concept ID:
- C4048268
- •
- Pathologic Function
A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom
- Growth abnormality