From HPO
Red urine- MedGen UID:
- 910906
- •Concept ID:
- C0858862
- •
- Finding
An abnormal red color of the urine.
Increased urinary porphobilinogen- MedGen UID:
- 868601
- •Concept ID:
- C4023000
- •
- Finding
The concentration of porphobilinogen in the urine, normalized for urine concentration, is above the upper limit of normal.
Increased urine harderoporphyrin level- MedGen UID:
- 1783842
- •Concept ID:
- C5539729
- •
- Finding
Concentration of harderoporphyrin in the urine, normalized for urine concentration, is above the upper limit of normal.
Hepatomegaly- MedGen UID:
- 42428
- •Concept ID:
- C0019209
- •
- Finding
Abnormally increased size of the liver.
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.
Prolonged neonatal jaundice- MedGen UID:
- 347108
- •Concept ID:
- C1859236
- •
- Finding
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants.
Increased fecal harderoporphyrin- MedGen UID:
- 1841832
- •Concept ID:
- C5826418
- •
- Finding
Abnormally high concentration of harderoporphyrin in feces.
Hemolytic anemia- MedGen UID:
- 1916
- •Concept ID:
- C0002878
- •
- Disease or Syndrome
A type of anemia caused by premature destruction of red blood cells (hemolysis).
Reticulocytosis- MedGen UID:
- 60089
- •Concept ID:
- C0206160
- •
- Finding
An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
Splenomegaly- MedGen UID:
- 52469
- •Concept ID:
- C0038002
- •
- Finding
Abnormal increased size of the spleen.
Increased circulating ferritin concentration- MedGen UID:
- 69130
- •Concept ID:
- C0241013
- •
- Finding
Increased concentration of ferritin in the blood circulation.
Neonatal hyperbilirubinemia- MedGen UID:
- 208991
- •Concept ID:
- C0857007
- •
- Disease or Syndrome
A type of hyperbilirubinemia with neonatal onset.
Hyperpigmentation of the skin- MedGen UID:
- 57992
- •Concept ID:
- C0162834
- •
- Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
Cutaneous photosensitivity- MedGen UID:
- 87601
- •Concept ID:
- C0349506
- •
- Pathologic Function
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.
- Abnormality of blood and blood-forming tissues
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the genitourinary system
- Abnormality of the immune system
- Abnormality of the integument