FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term glycine encephalopathy ID (Ontology) DOID:9268 (Human Disease)
Definition An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.
Also Known As "GCE" ; "NKH" ; "Non-ketotic hyperglycinemia" (for all, see Synonyms field below)
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DO.org
Annotations
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
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 Alleles Genes
 glycine encephalopathy       1      1
 model of | glycine encephalopathy       1       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
inherited metabolic disorder       |
 |__amino acid metabolic disorder__|
                                   glycine encephalopathy  3 rec.
                                    |__glycine encephalopathy 1 1 rec.
                                    |__glycine encephalopathy 2 1 rec.
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Is a autosomal recessive disease
amino acid metabolic disorder
Part of
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Synonyms
  • "GCE" EXACT OMO:0003012
    "NKH" EXACT OMO:0003012
    "Non-ketotic hyperglycinemia" EXACT
    "nonketotic hyperglycinemia" EXACT
Secondary IDs
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GARD:7219
ICD10CM:E72.51
MESH:D020158
MIM:PS605899
NCI:C84937
ORDO:407
SNOMEDCT_US_2023_03_01:237939006
UMLS_CUI:C0751748