Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Hyperglycinemia, Nonketotic
Debug Stats
  • ### Total Build Time: 169 ms 28.711 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 352 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 450 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=2 ms Completed: 2 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=9 ms Completed: 9 ms rowSize= 1,023 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 6.802 KB
  • CONCEPT_RELATIONSHIPS gt=134 ms Completed: 134 ms rowSize= 13.804 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 4.943 KB
  • CONCEPT_XREFS gt=10 ms Completed: 10 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hyperglycinemia, Nonketotic C0751748
Definition (1)
An autosomal recessive inherited metabolic disorder caused by mutations in the AMT and GLDC genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs and symptoms include lethargy, feeding difficulties, hypotonia, intellectual deformities, and seizures.
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 Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Brain Diseases, Metabolic, Inborn C0752109
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Brain Diseases, Metabolic, Inborn C0752109
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Brain Diseases, Metabolic, Inborn C0752109
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Amino Acid Metabolism, Inborn Errors C0002514
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img 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_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
DISO_to_DISOused_forimg Glycinemia C0268559
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: 15864413, UMLKSK CUI: C0751748
img GENERIF, Score=1000, Pubmed Id: 16404748, UMLKSK CUI: C0751748
img GENERIF, Score=1000, Pubmed Id: 16601880, UMLKSK CUI: C0751748
XRefs (1)

XRef Types:
cui : 1


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