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Details
Link-It Detail - Disease - Porphyria, Hepatoerythropoietic
Debug Stats
  • ### Total Build Time: 83 ms 19.405 KB
  • CONCEPT_NAME gt=14 ms Completed: 14 ms rowSize= 420 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 567 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=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=11 ms Completed: 11 ms rowSize= 555 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=9 ms Completed: 9 ms rowSize= 9.274 KB
  • CONCEPT_RELATIONSHIPS gt=35 ms Completed: 35 ms rowSize= 7.197 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.165 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Porphyria, Hepatoerythropoietic C0162569
Hepatoerythropoietic Porphyria
Definition (1)
An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Porphyrias, Hepatic C0162533
Ancestral Roots
RootRoot Plus OneDepthParent
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
img Digestive System Diseases C0012242img Liver Diseases C00238954img Porphyrias, Hepatic C0162533
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Porphyrias, Hepatic C0162533
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Porphyrias, Hepatic C0162533
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Porphyrias, Hepatic C0162533
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372746img Porphyrias, Hepatic C0162533
Relationships (11)

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


Relationships:
none : 4
gene_​associated_​with_​disease : 1
gene_​product_​malfunction_​associated_​with_​disease : 1
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
permuted_​term_​of : 1
related_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN20img genetic aspects C0017399
DISO_to_CHEM9img FERROCHELATASE C0015880
DISO_to_DISO6img Complication Aspects C1171258
DISO_to_PHYS6img Mutation C0026882
DISO_to_ANATis_associated_anatomic_site_ofimg Integumentary System C0037267
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Skin C1123023
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg UROPORPHYRINOGEN DECARBOXYLASE C0042085
DISO_to_DISOis_finding_of_diseaseimg Cutaneous Involvement C1511567
DISO_to_DISOpermuted_term_ofimg Hepatoerythropoietic Porphyria C0162569
DISO_to_GENErelated_toimg UROD gene C1421374
DISO_to_GENEgene_associated_with_diseaseimg UROD wt Allele C2987231
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0162569Porphyria, Hepatoerythropoietic0self