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neurometabolic disorder due to serine deficiency
Disease Summary
Associated Targets (4)
Tbio
3
Tchem
1
Mondo Description Serine-deficiency syndrome is a very rare infantile-onset potentially treatable neurometabolic disorder characterized clinically by microcephaly, neurodevelopmental disorders and seizures. Three serine-deficiency syndromes have been described: 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, 3-phosphoserine phosphatase (3-PSP) deficiency, and phosphoserine aminotransferase deficiency.
Mondo Term and Equivalent IDs
MONDO:0018162: neurometabolic disorder due to serine deficiency
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
Orphanet:35705
UMLS:CN227274
MONDO:0018162
High level summary of knowledge for a disease, including descriptions and datasource references.