From HPO
Impaired renal tubular reabsorption of bicarbonate- MedGen UID:
- 1783147
- •Concept ID:
- C5539860
- •
- Finding
Decreased renal tubular reabsorption of bicarbonate.
Short stature- MedGen UID:
- 87607
- •Concept ID:
- C0349588
- •
- Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Growth delay- MedGen UID:
- 99124
- •Concept ID:
- C0456070
- •
- Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Increased red cell osmotic resistance- MedGen UID:
- 346950
- •Concept ID:
- C1858628
- •
- Finding
Cerebral calcification- MedGen UID:
- 124360
- •Concept ID:
- C0270685
- •
- Finding
The presence of calcium deposition within the cerebrum.
Hypokalemia- MedGen UID:
- 5712
- •Concept ID:
- C0020621
- •
- Finding
An abnormally decreased potassium concentration in the blood.
Hyperchloremic acidosis- MedGen UID:
- 43207
- •Concept ID:
- C0085569
- •
- Disease or Syndrome
Acidosis (pH less than 7.35) that develops with an increase in ionic chloride.
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.
Proximal renal tubular acidosis- MedGen UID:
- 82804
- •Concept ID:
- C0268435
- •
- Disease or Syndrome
A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia.
Hyperamylasemia- MedGen UID:
- 105401
- •Concept ID:
- C0476327
- •
- Finding
Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands.
Bicarbonate-wasting renal tubular acidosis- MedGen UID:
- 347681
- •Concept ID:
- C1858626
- •
- Disease or Syndrome
Decreased serum bicarbonate concentration- MedGen UID:
- 1670967
- •Concept ID:
- C4732833
- •
- Finding
An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation.
Glaucoma- MedGen UID:
- 42224
- •Concept ID:
- C0017601
- •
- Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Band-shaped keratopathy- MedGen UID:
- 56354
- •Concept ID:
- C0155120
- •
- Disease or Syndrome
An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Growth abnormality