From HPO
Renal tubular acidosis- MedGen UID:
- 90
- •Concept ID:
- C0001126
- •
- Disease or Syndrome
Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis.
Cardiac arrhythmia- MedGen UID:
- 2039
- •Concept ID:
- C0003811
- •
- Finding
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
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.
Diarrhea- MedGen UID:
- 8360
- •Concept ID:
- C0011991
- •
- Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
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.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Lethargy- MedGen UID:
- 7310
- •Concept ID:
- C0023380
- •
- Sign or Symptom
A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating.
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.
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.
Elevated circulating aspartate aminotransferase concentration- MedGen UID:
- 57497
- •Concept ID:
- C0151904
- •
- Finding
An abnormally high concentration in the circulation of aspartate aminotransferase (AST).
Elevated circulating alanine aminotransferase concentration- MedGen UID:
- 57740
- •Concept ID:
- C0151905
- •
- Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
Hyperammonemia- MedGen UID:
- 113136
- •Concept ID:
- C0220994
- •
- Disease or Syndrome
An increased concentration of ammonia in the blood.
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.
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.
Hyporeflexia- MedGen UID:
- 195967
- •Concept ID:
- C0700078
- •
- Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Elevated hepatic transaminase- 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.
Recurrent encephalopathy- MedGen UID:
- 376865
- •Concept ID:
- C1850719
- •
- Finding
Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections.
Transient hyperlipidemia- MedGen UID:
- 340608
- •Concept ID:
- C1850722
- •
- Finding
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Dicarboxylic aciduria- MedGen UID:
- 343550
- •Concept ID:
- C1856432
- •
- Finding
An increased concentration of dicarboxylic acid in the urine.
Hypoketotic hypoglycemia- MedGen UID:
- 344733
- •Concept ID:
- C1856438
- •
- Finding
A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Hepatic steatosis- MedGen UID:
- 398225
- •Concept ID:
- C2711227
- •
- Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Pregnancy history- MedGen UID:
- 871211
- •Concept ID:
- C4025690
- •
- Anatomical Abnormality