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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:0002020 | Gastroesophageal reflux |
| HP:0000252 | Microcephaly |
| HP:0011968 | Feeding difficulties |
| HP:0000347 | Micrognathia |
| HP:0100540 | Palpebral edema |
| HP:0001276 | Hypertonia |
| HP:0000337 | Broad forehead |
| HP:0002342 | Intellectual disability, moderate |
| HP:0001511 | Intrauterine growth retardation |
| HP:0003593 | Infantile onset |
