From HPO
Abdominal pain- MedGen UID:
- 7803
- •Concept ID:
- C0000737
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Arthralgia- MedGen UID:
- 13917
- •Concept ID:
- C0003862
- •
- Sign or Symptom
Joint pain.
Fatigue- MedGen UID:
- 41971
- •Concept ID:
- C0015672
- •
- Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Enuresis- MedGen UID:
- 8649
- •Concept ID:
- C0014394
- •
- Disease or Syndrome
Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible.
Hypocalciuria- MedGen UID:
- 9381
- •Concept ID:
- C0020599
- •
- Disease or Syndrome
An abnormally decreased calcium concentration in the urine.
Nocturia- MedGen UID:
- 14440
- •Concept ID:
- C0028734
- •
- Disease or Syndrome
Abnormally increased production of urine during the night leading to an unusually frequent need to urinate.
Polyuria- MedGen UID:
- 19404
- •Concept ID:
- C0032617
- •
- Sign or Symptom
An increased rate of urine production.
Renal potassium wasting- MedGen UID:
- 339499
- •Concept ID:
- C1846348
- •
- Finding
High urine potassium in the presence of hypokalemia.
Renal magnesium wasting- MedGen UID:
- 1811452
- •Concept ID:
- C5574944
- •
- Finding
High urine magnesium in the presence of hypomagnesemia.
Hypotension- MedGen UID:
- 5715
- •Concept ID:
- C0020649
- •
- Finding
Low Blood Pressure, vascular hypotension.
Palpitations- MedGen UID:
- 14579
- •Concept ID:
- C0030252
- •
- Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
Ventricular tachycardia- MedGen UID:
- 12068
- •Concept ID:
- C0042514
- •
- Finding
A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
Prolonged QT interval- MedGen UID:
- 57494
- •Concept ID:
- C0151878
- •
- Finding
Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Constipation- MedGen UID:
- 1101
- •Concept ID:
- C0009806
- •
- Sign or Symptom
Infrequent or difficult evacuation of feces.
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.
Vertigo- MedGen UID:
- 53006
- •Concept ID:
- C0042571
- •
- Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
Cerebellar ataxia- MedGen UID:
- 849
- •Concept ID:
- C0007758
- •
- Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Paresthesia- MedGen UID:
- 14619
- •Concept ID:
- C0030554
- •
- Disease or Syndrome
Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Polydipsia- MedGen UID:
- 43214
- •Concept ID:
- C0085602
- •
- Sign or Symptom
Excessive thirst manifested by excessive fluid intake.
Salt craving- MedGen UID:
- 116112
- •Concept ID:
- C0240928
- •
- Finding
Hypersalivation, also known as salt craving, refers to an excessive desire to consume salt (sodium chloride) or salty foods.
Paralysis- MedGen UID:
- 105510
- •Concept ID:
- C0522224
- •
- Finding
Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.
Rhabdomyolysis- MedGen UID:
- 19775
- •Concept ID:
- C0035410
- •
- Pathologic Function
Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream.
Muscle spasm- MedGen UID:
- 52431
- •Concept ID:
- C0037763
- •
- Sign or Symptom
Sudden and involuntary contractions of one or more muscles.
Tetany- MedGen UID:
- 11748
- •Concept ID:
- C0039621
- •
- Finding
A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency.
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
Chondrocalcinosis- MedGen UID:
- 154303
- •Concept ID:
- C0553730
- •
- Disease or Syndrome
Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .
Generalized muscle weakness- MedGen UID:
- 155433
- •Concept ID:
- C0746674
- •
- Sign or Symptom
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
Hypokalemia- MedGen UID:
- 5712
- •Concept ID:
- C0020621
- •
- Finding
An abnormally decreased potassium concentration in the blood.
Hypokalemic alkalosis- MedGen UID:
- 43208
- •Concept ID:
- C0085570
- •
- Disease or Syndrome
Hypomagnesemia- MedGen UID:
- 57481
- •Concept ID:
- C0151723
- •
- Disease or Syndrome
An abnormally decreased magnesium concentration in the blood.
Recurrent fever- MedGen UID:
- 811468
- •Concept ID:
- C3714772
- •
- Sign or Symptom
Periodic (episodic or recurrent) bouts of fever.
Delayed puberty- MedGen UID:
- 46203
- •Concept ID:
- C0034012
- •
- Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Increased circulating renin level- MedGen UID:
- 66818
- •Concept ID:
- C0240783
- •
- Finding
An increased level of renin in the blood.
Blurred vision- MedGen UID:
- 91020
- •Concept ID:
- C0344232
- •
- Finding
Lack of sharpness of vision resulting in the inability to see fine detail.
- Abnormality of metabolism/homeostasis
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom
- Ear malformation
- Growth abnormality