From HPO
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
Hepatosplenomegaly- MedGen UID:
- 9225
- •Concept ID:
- C0019214
- •
- Sign or Symptom
Simultaneous enlargement of the liver and spleen.
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.
Elevated hepatic iron concentration- MedGen UID:
- 868497
- •Concept ID:
- C4022891
- •
- Finding
An increased level of iron in liver tissues.
Anemia- MedGen UID:
- 1526
- •Concept ID:
- C0002871
- •
- Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
Erythroid hyperplasia- MedGen UID:
- 4536
- •Concept ID:
- C0014800
- •
- Disease or Syndrome
Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow.
Anisocytosis- MedGen UID:
- 66371
- •Concept ID:
- C0221278
- •
- Finding
Abnormally increased variability in the size of erythrocytes.
Hypochromia- MedGen UID:
- 87187
- •Concept ID:
- C0333912
- •
- Finding
A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.
Decreased mean corpuscular volume- MedGen UID:
- 1375398
- •Concept ID:
- C0855790
- •
- Finding
A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Type 2 diabetes mellitus- MedGen UID:
- 41523
- •Concept ID:
- C0011860
- •
- Disease or Syndrome
WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss.
Elevated circulating hepatic transaminase concentration- MedGen UID:
- 116013
- •Concept ID:
- C0235996
- •
- 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.
Increased circulating ferritin concentration- MedGen UID:
- 69130
- •Concept ID:
- C0241013
- •
- Finding
Increased concentration of ferritin in the blood circulation.
Conjugated hyperbilirubinemia- MedGen UID:
- 82787
- •Concept ID:
- C0268307
- •
- Disease or Syndrome
Abnormally high level of conjugated bilirubin in the blood.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the immune system