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Details
Link-It Detail - Disease - GTP - Guanosine-5-triphosphate cyclohydrolase deficiency
Debug Stats
  • ### Total Build Time: 209 ms 16.193 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 410 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=189 ms Completed: 189 ms rowSize= 12.968 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 1.565 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.189 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
GTP - Guanosine-5-triphosphate cyclohydrolase deficiency C0268467
Relationships (40)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 39


Relationships:
associated_​with : 2
expanded_​form_​of : 1
manifestation_​of : 36
related_​to : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEMassociated_withimg GTP Cyclohydrolase I C0205775
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg Abnormal ocular movements C1855559
DISO_to_DISOmanifestation_ofimg Autosomal dominant dopa-responsive dystonia (DYT5, 128230) is an allelic disorder with overlapping features C2749617
DISO_to_DISOmanifestation_ofimg CHOREOATHETOSIS C0085583
DISO_to_DISOmanifestation_ofimg Caused by mutation in the GTP cyclohydrolase 1 gene (GCH1, 600225.0017) C2749615
DISO_to_DISOrelated_toimg DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder) C2673535
DISO_to_DISOmanifestation_ofimg Decreased homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5HIAA) in CSF C2749430
DISO_to_DISOmanifestation_ofimg Decreased neopterin and biopterin in CSF C2749613
DISO_to_DISOmanifestation_ofimg Decreased neopterin and biopterin in urine C2749612
DISO_to_DISOmanifestation_ofimg Decreased or absent GCH1 activity C2749614
DISO_to_DISOmanifestation_ofimg Defect in tetrahydrobiopterin (BH4) synthesis C2748722
DISO_to_DISOmanifestation_ofimg Deglutition Disorders C0011168
DISO_to_DISOmanifestation_ofimg Developmental delay (disorder) C0424605
DISO_to_DISOmanifestation_ofimg Diurnal fluctuation of neurologic symptoms C2749437
DISO_to_DISOmanifestation_ofimg Dystonia C0013421
DISO_to_DISOmanifestation_ofimg Early treatment can reduce neurologic symptoms C2748726
DISO_to_DISOexpanded_form_ofimg GTP - Guanosine-5-triphosphate cyclohydrolase deficiency C0268467
DISO_to_DISOmanifestation_ofimg Hyperactive behavior C0424295
DISO_to_DISOmanifestation_ofimg Hyperphenylalaninaemia C0751435
DISO_to_DISOmanifestation_ofimg Hyperthermia, episodic C1832159
DISO_to_DISOmanifestation_ofimg Hypertonia of the extremities C2749427
DISO_to_DISOmanifestation_ofimg Hypotonia, truncal C1837620
DISO_to_DISOmanifestation_ofimg Intellectual Disability C0025362
DISO_to_DISOmanifestation_ofimg Irritable Mood C0022107
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanGCH12643GTP cyclohydrolase 1
img GENERIF, Score=901, Pubmed Id: 18276179, UMLKSK CUI: C0268467
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268467GTP - Guanosine-5-triphosphate cyclohydrolase deficiency0self