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Repository for lectin-assisted multimodality data
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PSPH deficiency
Summary
- Synonym
-
- PSPHD
- Phosphoserine phosphatase deficiency
- Definition
- A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine.
- Super Class
- serine deficiency
External Links
- Disease Ontology
- DOID:0050724
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P78330 | Phosphoserine phosphatase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001263 | Global developmental delay |
| HP:0012279 | Hyposerinemia |
| HP:0000293 | Full cheeks |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0000154 | Wide mouth |
| HP:0008897 | Postnatal growth retardation |
| HP:0000341 | Narrow forehead |
| HP:0100633 | Esophagitis |
| HP:0001999 | Abnormal facial shape |
| HP:0000047 | Hypospadias |
