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 - Porphyria, Variegate
Debug Stats
  • ### Total Build Time: 78 ms 27.396 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 387 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 398 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 555 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 9.274 KB
  • CONCEPT_RELATIONSHIPS gt=55 ms Completed: 55 ms rowSize= 13.185 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 2.255 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Porphyria, Variegate C0162532
Variegate Porphyria
Definition (1)
An autosomal dominant disorder of porphyria-heme metabolism. It is manifested with acute attacks including abdominal pain, vomiting, diarrhea, constipation, seizures, anxiety, and confusion. Patients may experience skin sensitivity to sunlight.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Porphyrias, Hepatic C0162533
Ancestral Roots
RootRoot Plus OneDepthParent
img Digestive System Diseases C0012242img Liver Diseases C00238954img Porphyrias, Hepatic C0162533
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Porphyrias, Hepatic C0162533
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Porphyrias, Hepatic C0162533
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372746img Porphyrias, Hepatic C0162533
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Porphyrias, Hepatic C0162533
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Porphyrias, Hepatic C0162533
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Porphyrias, Hepatic C0162533
Relationships (28)

Relation Types:
diso_​to_​chem : 6
diso_​to_​diso : 20
diso_​to_​phen : 2


Relationships:
none : 7
alias_​of : 2
associated_​with : 2
isa : 1
manifestation_​of : 15
related_​to : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN14img genetic aspects C0017399
DISO_to_CHEM9img Protoporphyrinogen Oxidase C0072500
DISO_to_CHEM6img Flavoprotein C0016223
DISO_to_CHEM6img Flavoproteins C0016223
DISO_to_CHEM6img Mitochondrial Protein C0949610
DISO_to_CHEM6img Mitochondrial Proteins C0949610
DISO_to_PHEN6img genetic aspects C0017399
DISO_to_CHEMassociated_withimg Protoporphyrinogen Oxidase C0072500
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg Abdominal Pain C0000737
DISO_to_DISOmanifestation_ofimg Attacks often drug-induced C1867940
DISO_to_DISOmanifestation_ofimg Caused by mutations in the protoporphyrinogen oxidase gene (PPOX, 600923.0001) C1867939
DISO_to_DISOmanifestation_ofimg Common in South African whites C1867941
DISO_to_DISOmanifestation_ofimg Constipation C0009806
DISO_to_DISOmanifestation_ofimg Elevated fecal levels of protoporphyrin and coproporphyrin at all times C1867935
DISO_to_DISOisaimg Homozygous variegate porphyria C0342860
DISO_to_DISOmanifestation_ofimg Increased urinary porphyrin precursors porphobilinogen (PBG) and delta-aminolevulinic acid (ALA) during acute attacks C1867937
DISO_to_DISOmanifestation_ofimg Increased urine porphyrins at times C1867936
DISO_to_DISOmanifestation_ofimg Muscular paralysis C0553727
DISO_to_DISOmanifestation_ofimg Neuropathy C0442874
DISO_to_DISOalias_ofimg Porphyria, South African type C2936913
DISO_to_DISOalias_ofimg Porphyria, Variegate C0162532
DISO_to_DISOmanifestation_ofimg Psychotic Disorders C0033975
DISO_to_DISOmanifestation_ofimg Reduced (50%) activity of protoporphyrinogen oxidase (PROTO oxidase) C1867938
DISO_to_DISOmanifestation_ofimg Skin manifestation less frequently observed in cold climates C1867942
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanPPOX5498protoporphyrinogen oxidase
img GAD, Score=1000, Pubmed Id: 8817334, UMLKSK CUI: C0162532
img GENERIF, Score=1000, Pubmed Id: 16947091, UMLKSK CUI: C0162532
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0162532Porphyria, Variegate0self