Rare Diseases Symptoms Automatic Extraction

Black kidney in Albinism.

[oculocutaneous albinism]

Implication for health policy/practice/research/medical education: Oculocutaneous albinism may be similar to two related syndromes (Hermansky-Pudlak and Chediak-Higashi) and could lead to more widespread lysosome excretory defects. These defects could lead to accumulation of some intracellular material, leading to the gross discoloration of the kidney.

Diseases presenting "albinism" symptom

  • aniridia
  • cystinuria
  • harlequin ichthyosis
  • oculocutaneous albinism
  • phenylketonuria

This symptom has already been validated