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Details
Link-It Detail - Disease - Porphyria, Erythropoietic
Debug Stats
  • ### Total Build Time: 206 ms 26.527 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 348 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 2.489 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Porphyria, Erythropoietic C0162530
Definition (1)
A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme uroporphyrinogen III cosynthetase. It results in cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Porphyrias C0032708
img Skin Diseases, Genetic C0037277
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Porphyrias C0032708
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Porphyrias C0032708
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Porphyrias C0032708
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Porphyrias C0032708
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Diseases, Genetic C0037277
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Skin Diseases, Genetic C0037277
Relationships (41)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 37
diso_​to_​phen : 2


Relationships:
none : 5
alias_​of : 1
associated_​with : 2
entry_​version_​of : 1
isa : 2
manifestation_​of : 30
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN31img genetic aspects C0017399
DISO_to_PHEN23img genetic aspects C0017399
DISO_to_CHEM12img Uroporphyrinogen III Synthetase C0042089
DISO_to_DISO10img Complication Aspects C1171258
DISO_to_DISO9img Complication Aspects C1171258
DISO_to_CHEMassociated_withimg Uroporphyrinogen III Synthetase C0042089
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOmanifestation_ofimg ANAEMIA HAEMOLYTIC C0002878
DISO_to_DISOmanifestation_ofimg Alopecia C0002170
DISO_to_DISOmanifestation_ofimg BONE LOSS C0029453
DISO_to_DISOmanifestation_ofimg Blister C0005758
DISO_to_DISOmanifestation_ofimg CICATRIX CORNEAL C0349702
DISO_to_DISOmanifestation_ofimg Caused by mutation in the uroporphyrinogen III cosynthase gene (UROS, 606938.0001) C1849717
DISO_to_DISOmanifestation_ofimg Cicatrix C2004491
DISO_to_DISOmanifestation_ofimg Ciliary madarosis C0271321
DISO_to_DISOmanifestation_ofimg Conjunctivitis C0009763
DISO_to_DISOmanifestation_ofimg Contractures of fingers C1411006
DISO_to_DISOalias_ofimg Deficiency of Uroporphyrinogen III Synthase C2718078
DISO_to_DISOmanifestation_ofimg Disease, Rare C0678236
DISO_to_DISOmanifestation_ofimg Enlarged Spleen C0038002
DISO_to_DISOisaimg Erythropoietic Protoporphyria C0162568
DISO_to_DISOmanifestation_ofimg Eyebrows sparse C0578682
DISO_to_DISOmanifestation_ofimg Fractures, Spontaneous C0016663
DISO_to_DISOmanifestation_ofimg Hyperpigmentation C0162834
DISO_to_DISOmanifestation_ofimg Hypertrichosis C0020555
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanUROS7390uroporphyrinogen III synthase
img GENERIF, Score=1000, Pubmed Id: 19099412, UMLKSK CUI: C0162530
HumanFECH2235ferrochelatase
img GENERIF, Score=1000, Pubmed Id: 15046047, UMLKSK CUI: C0162530
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0162530Porphyria, Erythropoietic0self