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Details
Link-It Detail - Disease - Porphyrias
Debug Stats
  • ### Total Build Time: 272 ms 39.792 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 381 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 502 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=16 ms Completed: 16 ms rowSize= 1.406 KB
  • CONCEPT_CHILDREN gt=13 ms Completed: 13 ms rowSize= 1,000 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=13 ms Completed: 13 ms rowSize= 6.708 KB
  • CONCEPT_RELATIONSHIPS gt=193 ms Completed: 193 ms rowSize= 13.507 KB
  • CONCEPT_GENES gt=22 ms Completed: 22 ms rowSize= 14.977 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.145 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Porphyrias C0032708
Disorders of Porphyrin Metabolism
Definition (1)
group of disorders characterized by the excessive production of porphyrins or their precursors that arises from abnormalities in the regulation of the porphyrin-heme pathway; acquired porphyrias, which are due to inhibition of enzymes in the metabolic pathway by a drug, toxin or abnormal metabolite, are more common than those which are inherited.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Metabolic Diseases C0025517
img Metabolism, Inborn Errors C0025521
img Skin Diseases, Metabolic C0037279
Children (2)
img Porphyrias, Hepatic C0162533
img Porphyria, Erythropoietic C0162530
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255173img Metabolic Diseases C0025517
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Metabolism, Inborn Errors C0025521
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Metabolism, Inborn Errors C0025521
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Diseases, Metabolic C0037279
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Skin Diseases, Metabolic C0037279
Relationships (64)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 9
diso_​to_​diso : 51
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 12
associated_​with : 5
classifies : 2
induces : 4
isa : 9
mapped_​to : 31
related_​to : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN25img genetic aspects C0017399
DISO_to_DISO22img Complication Aspects C1171258
DISO_to_DISO19img chemically induced C0007994
DISO_to_DISO14img chemically induced C0007994
DISO_to_PHEN13img genetic aspects C0017399
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_CHEM9img Porphyrin C0032712
DISO_to_CHEM7img Heme C0018966
DISO_to_CHEM6img Heme C0018966
DISO_to_ANAT5img In Blood C0005768
DISO_to_CHEM4img 603-604 NON-STEROIDAL ANTI-INFLAMMATORY AGENTS C0003211
DISO_to_DISO4img Fasting C0015663
DISO_to_CHEMinducesimg 2,2-Dichloro-1,1-difluoro-1-methoxyethane C0025688
DISO_to_CHEMinducesimg METHOXYFLURANE 99.9% INHL C0978560
DISO_to_CHEMinducesimg METHOXYFLURANE INHL C0978561
DISO_to_CHEMinducesimg Methoxyflurane C0025688
DISO_to_CHEMassociated_withimg Porphyrin C0032712
DISO_to_DISOisaimg 6-84-85 DISORDERS OF BILIRUBIN METABOLISM C0268305
DISO_to_DISOmapped_toimg Acquired hepatic porphyria C1276127
DISO_to_DISOmapped_toimg Acute intermittent porphyria C0162565
DISO_to_DISOmapped_toimg Cafe-au-lait macules with pulmonary stenosis C0553586
DISO_to_DISOmapped_toimg Chester-type porphyria C0268322
DISO_to_DISOisaimg Coproporphyria C0342856
DISO_to_DISOmapped_toimg Coproporphyria, Hereditary C0162531
DISO_to_DISOmapped_toimg Coproporphyria, erythropoietic C0268321
Genes (12)

Species:
human : 12
SpeciesGeneGeneIdGene NameEvidence
HumanHAMP57817hepcidin antimicrobial peptide
INFERRED, Score=800, UMLKSK CUI: C0032708
HumanUROS7390uroporphyrinogen III synthase
INFERRED, Score=800, UMLKSK CUI: C0032708
HumanUROD7389uroporphyrinogen decarboxylase
img GENERIF, Score=861, Pubmed Id: 16390615, UMLKSK CUI: C0032708
HumanTFRC7037transferrin receptor (p90, CD71)
INFERRED, Score=800, UMLKSK CUI: C0032708
HumanPPOX5498protoporphyrinogen oxidase
INFERRED, Score=800, UMLKSK CUI: C0032708
HumanHMBS3145hydroxymethylbilane synthase
img GAD, Score=1000, Pubmed Id: 15643298, UMLKSK CUI: C0032708
img GAD, Score=1000, Pubmed Id: 11202057, UMLKSK CUI: C0032708
img GENERIF, Score=861, Pubmed Id: 17298217, UMLKSK CUI: C0032708
img GENERIF, Score=861, Pubmed Id: 16390615, UMLKSK CUI: C0032708
HumanHFE3077hemochromatosis
INFERRED, Score=800, UMLKSK CUI: C0032708
HumanFECH2235ferrochelatase
INFERRED, Score=800, UMLKSK CUI: C0032708
HumanCYP2D61565cytochrome P450, family 2, subfamily D, polypeptide 6
img GENERIF, Score=1000, Pubmed Id: 17225875, UMLKSK CUI: C0032708
HumanCYP1A21544cytochrome P450, family 1, subfamily A, polypeptide 2
img GAD, Score=1000, Pubmed Id: 12851801, UMLKSK CUI: C0032708
img GAD, Score=1000, Pubmed Id: 14714565, UMLKSK CUI: C0032708
HumanCPOX1371coproporphyrinogen oxidase
INFERRED, Score=800, UMLKSK CUI: C0032708
HumanALAS2212aminolevulinate, delta-, synthase 2
img GENERIF, Score=1000, Pubmed Id: 18760763, UMLKSK CUI: C0032708
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0032708Porphyrias0self