neurometabolic disorder due to serine deficiency
http://purl.obolibrary.org/obo/MONDO_0018162
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. [ Orphanet:35705 ]
Term info
- UMLS:CN227274 (MONDO:equivalentTo)
- Orphanet:35705 (MONDO:equivalentTo)
disease_grouping, ordo_group_of_disorders
https://github.com/monarch-initiative/mondo/issues/3886#issuecomment-993772000
This term was considered for obsoletion, but it is used by ClinGen and they requested we keep it.
MONDO:0019058
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.
http://linkedlifedata.com/resource/umls/id/CN227274, http://purl.obolibrary.org/obo/Orphanet_35705
neurometabolic disorder due to serine deficiency, serine deficiency
MONDO:0018162