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1.

Hypersulfaturia

Hypersulfaturia (HYSULF) is an autosomal recessive condition characterized by increased urinary sulfate excretion due to defective renal sulfate reabsorption. The single reported patient with this condition presented with adult-onset perichondritis of the costovertebral joints (Pfau et al., 2023). [from OMIM]

MedGen UID:
1841147
Concept ID:
C5830511
Disease or Syndrome
2.

Increased urinary sulfate

Elevated concentration of SO4(2-), i.e., sulfate, in the urine. [from HPO]

MedGen UID:
868426
Concept ID:
C4022820
Finding

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