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Anemia, nonspherocytic hemolytic, possibly due to defect in porphyrin metabolism

MedGen UID:
395345
Concept ID:
C1859785
Disease or Syndrome
Synonym: Anemia, Nonspherocytic Hemolytic, possibly due to Defect in Porphyrin Metabolism
 
Monarch Initiative: MONDO:0008790
OMIM®: 206400

Clinical features

From HPO
Elevated urinary delta-aminolevulinic acid
MedGen UID:
341286
Concept ID:
C1848702
Finding
An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine.
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.
Nonspherocytic hemolytic anemia
MedGen UID:
871250
Concept ID:
C4025735
Disease or Syndrome
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.

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