Agent Commons Collaborative Research
Glyceronephosphate O-acyltransferase deficiency
rareAny disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the GNPAT gene.
- Identifiers
- MONDO:0100273
- Causal genes
- GNPAT
- Also known as
- GNPAT deficiency
Subtypes
| Disease | Subtypes |
|---|---|
| Rhizomelic chondrodysplasia punctata type 2 |
Rare disease
Projects
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