From HPO
Albuminuria- MedGen UID:
- 1394
- •Concept ID:
- C0001925
- •
- Finding
Increased concentration of albumin in the urine.
Premature ovarian insufficiency- MedGen UID:
- 9963
- •Concept ID:
- C0025322
- •
- Disease or Syndrome
Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.
Aminoaciduria- MedGen UID:
- 116067
- •Concept ID:
- C0238621
- •
- Disease or Syndrome
An increased concentration of an amino acid in the urine.
Galactosuria- MedGen UID:
- 120615
- •Concept ID:
- C0268157
- •
- Disease or Syndrome
Elevated concentration of galactose in the urine.
Increased level of galactitol in urine- MedGen UID:
- 1639504
- •Concept ID:
- C4703628
- •
- Finding
An increase in the level of galactitol in the urine.
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.
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.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Jaundice- MedGen UID:
- 43987
- •Concept ID:
- C0022346
- •
- Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Cirrhosis of liver- MedGen UID:
- 7368
- •Concept ID:
- C0023890
- •
- Disease or Syndrome
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
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.
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.
Decreased liver function- MedGen UID:
- 65430
- •Concept ID:
- C0232744
- •
- Finding
Reduced ability of the liver to perform its functions.
Delayed speech and language development- MedGen UID:
- 105318
- •Concept ID:
- C0454644
- •
- Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Bilateral tonic-clonic seizure- MedGen UID:
- 141670
- •Concept ID:
- C0494475
- •
- Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
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.
Hemolytic anemia- MedGen UID:
- 1916
- •Concept ID:
- C0002878
- •
- Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Elevated circulating aspartate aminotransferase concentration- MedGen UID:
- 57497
- •Concept ID:
- C0151904
- •
- Finding
The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal.
Elevated circulating alanine aminotransferase concentration- MedGen UID:
- 57740
- •Concept ID:
- C0151905
- •
- Finding
An abnormally high concentration in the circulation of alanine aminotransferase (ALT).
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.
Hyperchloremic metabolic acidosis- MedGen UID:
- 369924
- •Concept ID:
- C1969073
- •
- Disease or Syndrome
A form of metabolic acidosis with increased serum chloride levels.
Hypergalactosemia- MedGen UID:
- 892325
- •Concept ID:
- C4023071
- •
- Finding
Elevated concentration of galactose in the blood.
Increased level of galactitol in plasma- MedGen UID:
- 1647478
- •Concept ID:
- C4703627
- •
- Finding
An increase in the level of galactitol in the plasma.
Increased level of galactonate in red blood cells- MedGen UID:
- 1639833
- •Concept ID:
- C4703629
- •
- Finding
An increase in the level of galactonate in the red blood cells.
Increased level of galactitol in red blood cells- MedGen UID:
- 1643634
- •Concept ID:
- C4703630
- •
- Finding
An increase in the level of galactitol in the red blood cells.
Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity- MedGen UID:
- 1853189
- •Concept ID:
- C5872957
- •
- Finding
Activity or concentration of in the level of galactose-1-phosphate uridylyltransferase (GALT; EC 2.7.7.12) in erythrocytes below the lower limit of normal.
Hypergonadotropic hypogonadism- MedGen UID:
- 184926
- •Concept ID:
- C0948896
- •
- Disease or Syndrome
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
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.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- 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
- Growth abnormality