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neurometabolic disorder due to serine deficiency

Go to external page 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 ]

Synonyms: neurometabolic disorder due to serine deficiency serine deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:18815 (Orphanet:35705)
  • Orphanet:35705 (MONDO:equivalentTo)
  • UMLS:CN227274 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, clingen, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3886#issuecomment-993772000

comment

This term was considered for obsoletion, but it is used by ClinGen and they requested we keep it.

consider

MONDO:0019058

exactMatch

http://linkedlifedata.com/resource/umls/id/CN227274

http://www.orpha.net/ORDO/Orphanet_35705

id

MONDO:0018162

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0018162

Term relations