From HPO
Hypercalciuria- MedGen UID:
- 43775
- •Concept ID:
- C0020438
- •
- Finding
Abnormally high level of calcium in the urine.
Primary Fanconi syndrome- MedGen UID:
- 341765
- •Concept ID:
- C1857395
- •
- Disease or Syndrome
An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water.
3-Methylglutaric aciduria- MedGen UID:
- 463302
- •Concept ID:
- C3151952
- •
- Finding
An abnormally increased level of 3-hydroxy-3-methylglutaric acid in the urine.
Complex organic aciduria- MedGen UID:
- 463303
- •Concept ID:
- C3151953
- •
- Finding
Small for gestational age- MedGen UID:
- 65920
- •Concept ID:
- C0235991
- •
- Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
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.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Steatorrhea- MedGen UID:
- 20948
- •Concept ID:
- C0038238
- •
- Finding
Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats.
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.
Liver failure- MedGen UID:
- 88444
- •Concept ID:
- C0085605
- •
- Disease or Syndrome
A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.
Pancreatic fibrosis- MedGen UID:
- 120607
- •Concept ID:
- C0267952
- •
- Disease or Syndrome
Exocrine pancreatic insufficiency- MedGen UID:
- 75647
- •Concept ID:
- C0267963
- •
- Disease or Syndrome
Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Chronic diarrhea- MedGen UID:
- 96036
- •Concept ID:
- C0401151
- •
- Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Villous atrophy- MedGen UID:
- 154306
- •Concept ID:
- C0554101
- •
- Finding
The enteric villi are atrophic or absent.
Macronodular cirrhosis- MedGen UID:
- 384466
- •Concept ID:
- C2004456
- •
- Disease or Syndrome
A type of cirrhosis characterized by the presence of large regenerative nodules.
Malabsorption- MedGen UID:
- 811453
- •Concept ID:
- C3714745
- •
- Finding
Impaired ability to absorb one or more nutrients from the intestine.
Anorexia- MedGen UID:
- 315
- •Concept ID:
- C0003123
- •
- Disease or Syndrome
Anorexia, or the loss of appetite for food, is a medical condition.
Lethargy- MedGen UID:
- 7310
- •Concept ID:
- C0023380
- •
- Sign or Symptom
A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Sideroblastic anemia- MedGen UID:
- 8067
- •Concept ID:
- C0002896
- •
- Disease or Syndrome
Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).
Pancytopenia- MedGen UID:
- 18281
- •Concept ID:
- C0030312
- •
- Disease or Syndrome
An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).
Thrombocytopenia- MedGen UID:
- 52737
- •Concept ID:
- C0040034
- •
- Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Hypoplastic anemia- MedGen UID:
- 64229
- •Concept ID:
- C0178416
- •
- Disease or Syndrome
Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia.
Reticulocytopenia- MedGen UID:
- 167812
- •Concept ID:
- C0858867
- •
- Finding
A reduced number of reticulocytes in the peripheral blood.
Elevated bone marrow ring sideroblast count- MedGen UID:
- 1645785
- •Concept ID:
- C4551661
- •
- Disease or Syndrome
Count of ring sideroblasts in the bone marrow above the upper limit of normal. Ring sideroblasts are nucleated erythroblasts with a pathologic accumulation of iron granules in the mitochondrial matrix. They can be detected by Prussian blue staining as blue perinuclear aggregates in bone marrow aspirate erythroblasts.
Recurrent infections- MedGen UID:
- 65998
- •Concept ID:
- C0239998
- •
- Finding
Increased susceptibility to infections.
Neutropenia- MedGen UID:
- 163121
- •Concept ID:
- C0853697
- •
- Finding
An abnormally low number of neutrophils in the peripheral blood.
Punctate keratitis- MedGen UID:
- 736733
- •Concept ID:
- C1562761
- •
- Disease or Syndrome
A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium.
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.
Dehydration- MedGen UID:
- 8273
- •Concept ID:
- C0011175
- •
- Disease or Syndrome
A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.
Diabetes mellitus type 1- MedGen UID:
- 41522
- •Concept ID:
- C0011854
- •
- Disease or Syndrome
Type 1 diabetes mellitus (T1D), also designated insulin-dependent diabetes mellitus (IDDM), is a disorder of glucose homeostasis characterized by susceptibility to ketoacidosis in the absence of insulin therapy. It is a genetically heterogeneous autoimmune disease affecting about 0.3% of Caucasian populations (Todd, 1990). Genetic studies of T1D have focused on the identification of loci associated with increased susceptibility to this multifactorial phenotype.
The classic phenotype of diabetes mellitus is polydipsia, polyphagia, and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
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.
Hyperbilirubinemia- MedGen UID:
- 86321
- •Concept ID:
- C0311468
- •
- Finding
An increased amount of bilirubin in the blood.
Elevated circulating hepatic transaminase concentration- 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.
Pallor- MedGen UID:
- 10547
- •Concept ID:
- C0030232
- •
- Finding
Abnormally pale skin.
Erythema- MedGen UID:
- 11999
- •Concept ID:
- C0041834
- •
- Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
Hydrops fetalis- MedGen UID:
- 6947
- •Concept ID:
- C0020305
- •
- Disease or Syndrome
The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of prenatal development or birth
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the nervous system
- Growth abnormality