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Details
Link-It Detail - Disease - Protoporphyria, Erythropoietic
Debug Stats
  • ### Total Build Time: 55 ms 25.271 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 358 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 322 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=9 ms Completed: 9 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=33 ms Completed: 33 ms rowSize= 13.364 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Protoporphyria, Erythropoietic C0162568
Definition (1)
autosomal dominant disorder due to partial deficiency of ferrochelatase, characterized by an excess of protoporphyrin and a wide variety of photosensitive skin changes.
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 (26)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 3
diso_​to_​diso : 18
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 8
alias_​of : 1
associated_​with : 2
isa : 1
manifestation_​of : 12
use : 2
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN36img genetic aspects C0017399
DISO_to_CHEM24img FERROCHELATASE C0015880
DISO_to_DISO23img Complication Aspects C1171258
DISO_to_PHEN18img genetic aspects C0017399
DISO_to_CHEM13img FERROCHELATASE C0015880
DISO_to_ANAT12img In Blood C0005768
DISO_to_DISO10img Complication Aspects C1171258
DISO_to_PHYS9img Mutation C0026882
DISO_to_ANATmanifestation_ofimg Biliary calculi C0242216
DISO_to_CHEMassociated_withimg FERROCHELATASE C0015880
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg ANAEMIA HAEMOLYTIC C0002878
DISO_to_DISOmanifestation_ofimg Autosomal dominant (177000.0003) C1867529
DISO_to_DISOmanifestation_ofimg Autosomal recessive (177000.0006) C1867530
DISO_to_DISOmanifestation_ofimg Caused by mutation in the ferrochelatase gene (FECH, 177000.0001) C1867535
DISO_to_DISOmanifestation_ofimg Compound heterozygosity common C1867537
DISO_to_DISOuseimg Erythropoietic Protoporphyria C0162568
DISO_to_DISOmanifestation_ofimg Excess protoporphyrin in bile and feces but not in urine C1867533
DISO_to_DISOalias_ofimg Ferrochelatase deficiency C0349426
DISO_to_DISOmanifestation_ofimg Fluorescence of red blood cells by UV microscopy C1867532
DISO_to_DISOisaimg Homozygous erythropoietic protoporphyria C0342857
DISO_to_DISOmanifestation_ofimg Liver Failure C0085605
DISO_to_DISOmanifestation_ofimg Mild hypertriglyceridemia C1867531
DISO_to_DISOmanifestation_ofimg Onset usually before age 10 years C1867536
DISO_to_DISOmanifestation_ofimg Reduced ferrochelatase activity C1867534
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0162568Protoporphyria, Erythropoietic0self