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Details
Link-It Detail - Disease - Hyperglycinemia, Nonketotic
Debug Stats
  • ### Total Build Time: 106 ms 28.587 KB
  • CONCEPT_NAME gt=11 ms Completed: 11 ms rowSize= 408 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 4.939 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=2 ms Completed: 2 ms rowSize= 14 bytes
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Disease (2)
Hyperglycinemia, Nonketotic C0751748
Nonketotic Hyperglycinemia
Definition (1)
An autosomal recessive metabolic disorder caused by deficiencies in the mitochondrial GLYCINE cleavage system.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Brain Diseases, Metabolic, Inborn C0752109
img Amino Acid Metabolism, Inborn Errors C0002514
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Brain Diseases, Metabolic, Inborn C0752109
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Brain Diseases, Metabolic, Inborn C0752109
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Brain Diseases, Metabolic, Inborn C0752109
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Amino Acid Metabolism, Inborn Errors C0002514
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Amino Acid Metabolism, Inborn Errors C0002514
Relationships (42)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 3
diso_​to_​diso : 33
diso_​to_​phen : 2


Relationships:
none : 9
is_​associated_​anatomic_​site_​of : 2
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 4
manifestation_​of : 23
permuted_​term_​of : 1
related_​to : 1
used_​for : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO22img Complication Aspects C1171258
DISO_to_PHEN18img genetic aspects C0017399
DISO_to_DISO15img Complication Aspects C1171258
DISO_to_CHEM8img Acid Oxidoreductases, Amino C0002516
DISO_to_CHEM8img Amino Acid Oxidoreductases C0002516
DISO_to_ANAT7img Brain C0006104
DISO_to_DISO7img Seizures C0036572
DISO_to_CHEM6img Glycine C0017890
DISO_to_PHEN6img genetic aspects C0017399
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Brain C0006104
DISO_to_ANATis_associated_anatomic_site_ofimg Central Nervous System C0927232
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_DISOmanifestation_ofimg Absent corpus callosum (variable) C1853873
DISO_to_DISOmanifestation_ofimg Aggression C0001807
DISO_to_DISOmanifestation_ofimg Agitation C0085631
DISO_to_DISOisaimg Aminomethyltransferase deficiency (disorder) C0268562
DISO_to_DISOmanifestation_ofimg Burst suppression pattern on neonatal EEG C1853875
DISO_to_DISOmanifestation_ofimg Caused by mutation in the aminomethyltransferase gene (AMT, 238310.0001) C1853882
DISO_to_DISOmanifestation_ofimg Caused by mutation in the glycine cleavage system H protein gene (GCSH, 238330.0001) C1853881
DISO_to_DISOmanifestation_ofimg Caused by mutation in the glycine dehydrogenase gene (GLDC, 238300.0001) C1853880
DISO_to_DISOmanifestation_ofimg Death in infancy common for patients with the classic neonatal form C1853883
DISO_to_DISOmanifestation_ofimg Elevated CSF glycine C1853878
DISO_to_DISOmanifestation_ofimg Elevated CSF/plasma glycine ratio C1853879
DISO_to_DISOmanifestation_ofimg Expressive speech deficit C1853876
DISO_to_DISOisaimg Glycine decarboxylase deficiency C0268561
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanGLDC2731glycine dehydrogenase (decarboxylating)
img GENERIF, Score=1000, Pubmed Id: 14552331, UMLKSK CUI: C0751748
img GENERIF, Score=756, Pubmed Id: 17361008, UMLKSK CUI: C0751748
img GENERIF, Score=734, Pubmed Id: 15851735, UMLKSK CUI: C0751748
img GENERIF, Score=1000, Pubmed Id: 16601880, UMLKSK CUI: C0751748
img GENERIF, Score=1000, Pubmed Id: 15864413, UMLKSK CUI: C0751748
img GENERIF, Score=1000, Pubmed Id: 16404748, UMLKSK CUI: C0751748
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0751748Hyperglycinemia, Nonketotic0self