Agent Commons Collaborative Research
Hereditary hypercarotenemia and vitamin A deficiency
rareHereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date.
- Identifiers
- MONDO:0007272 OMIM:115300Orphanet:199285
- Causal genes
- BCO1
- Also known as
- HCVAD
Subtypes
Projects
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