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Details
Link-It Detail - Disease - Porphobilinogen synthase deficiency
Debug Stats
  • ### Total Build Time: 112 ms 16.952 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 368 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=1 ms Completed: 1 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=92 ms Completed: 92 ms rowSize= 10.650 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 4.703 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.169 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Porphobilinogen synthase deficiency C0268328
Relationships (25)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 23


Relationships:
alias_​of : 1
associated_​with : 3
manifestation_​of : 20
related_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEMassociated_withimg PORPHOBILINOGEN SYNTHASE C0002564
DISO_to_CHEMassociated_withimg Porphobilinogen Synthase C0002564
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg ANAEMIA HAEMOLYTIC C0002878
DISO_to_DISOmanifestation_ofimg Abdominal colic C0232488
DISO_to_DISOmanifestation_ofimg Anemia, Hemolytic C0002878
DISO_to_DISOmanifestation_ofimg Asymptomatic heterozygotes susceptible to lead toxicity C1852263
DISO_to_DISOmanifestation_ofimg Caused by mutation in the delta-aminolevulinate dehydratase gene (ALAD, 125270.0001) C2748609
DISO_to_DISOmanifestation_ofimg DIAPHRAGMATIC PARALYSIS C0035232
DISO_to_DISOmanifestation_ofimg Disorders of Porphyrin Metabolism C0032708
DISO_to_DISOmanifestation_ofimg Elevated urinary delta-aminolevulinic acid and porphyrins C1852261
DISO_to_DISOmanifestation_ofimg Erythrocyte delta-aminolevulinate dehydratase (ALAD) deficiency C1852260
DISO_to_DISOmanifestation_ofimg Exacerbation following stress, decreased food intake, or alcohol use C1852264
DISO_to_DISOmanifestation_ofimg Failure to Thrive C0015544
DISO_to_DISOrelated_toimg LEAD POISONING, SUSCEPTIBILITY TO C2748608
DISO_to_DISOmanifestation_ofimg Muscle Hypotonia C0026827
DISO_to_DISOmanifestation_ofimg Muscle Weakness C0151786
DISO_to_DISOmanifestation_ofimg Neuropathy (motor and sensory) C1408181
DISO_to_DISOmanifestation_ofimg Paralysed C0522224
DISO_to_DISOmanifestation_ofimg Paralysis C0522224
DISO_to_DISOmanifestation_ofimg Paresthesia C0030554
DISO_to_DISOalias_ofimg Porphobilinogen synthase deficiency C0268328
DISO_to_DISOmanifestation_ofimg Respiratory Paralysis C0035232
DISO_to_DISOmanifestation_ofimg Very rare C1855575
DISO_to_DISOmanifestation_ofimg Vomiting C0042963
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanPPOX5498protoporphyrinogen oxidase
img GENERIF, Score=988, Pubmed Id: 14669009, UMLKSK CUI: C0268328
HumanHMBS3145hydroxymethylbilane synthase
img GENERIF, Score=988, Pubmed Id: 14669009, UMLKSK CUI: C0268328
HumanFECH2235ferrochelatase
img GENERIF, Score=988, Pubmed Id: 14669009, UMLKSK CUI: C0268328
HumanCPOX1371coproporphyrinogen oxidase
img GENERIF, Score=988, Pubmed Id: 14669009, UMLKSK CUI: C0268328
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0268328Porphobilinogen synthase deficiency0self