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Details
Link-It Detail - Disease - Hyperkeratosis, Epidermolytic
Debug Stats
  • ### Total Build Time: 222 ms 27.286 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 442 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=1 ms Completed: 1 ms rowSize= 550 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=6 ms Completed: 6 ms rowSize= 574 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=36 ms Completed: 36 ms rowSize= 6.846 KB
  • CONCEPT_RELATIONSHIPS gt=139 ms Completed: 139 ms rowSize= 12.809 KB
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 4.721 KB
  • CONCEPT_XREFS gt=16 ms Completed: 16 ms rowSize= 1.163 KB
  • CONCEPT_ANCILLARY gt=2 ms Completed: 2 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Hyperkeratosis, Epidermolytic C0079153
Bullous Congenital Ichthyosiform Erythroderma (disorder)
Definition (1)
A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Ichthyosiform Erythroderma, Congenital C0079583
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372746img Ichthyosiform Erythroderma, Congenital C0079583
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Infant, Newborn, Diseases C00212905img Ichthyosiform Erythroderma, Congenital C0079583
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Ichthyosiform Erythroderma, Congenital C0079583
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Ichthyosiform Erythroderma, Congenital C0079583
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Ichthyosiform Erythroderma, Congenital C0079583
Relationships (40)

Relation Types:
diso_​to_​chem : 31
diso_​to_​diso : 5
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 8
disease_​has_​finding : 1
may_​treat : 29
permuted_​term_​of : 1
related_​to : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN32img genetic aspects C0017399
DISO_to_PHEN31img genetic aspects C0017399
DISO_to_CHEM19img Keratin C0022564
DISO_to_DISO13img Complication Aspects C1171258
DISO_to_PHYS12img Mutation C0026882
DISO_to_CHEM11img Keratin-10 C0170518
DISO_to_PHYS7img Mutation C0026882
DISO_to_DISO6img Cutaneous tumor C0037286
DISO_to_CHEMmay_treatimg CARBAMIDE PEROXIDE C0108342
DISO_to_CHEMmay_treatimg EUCERIN C0164056
DISO_to_CHEMmay_treatimg EUCERIN BAR,TOP C0976838
DISO_to_CHEMmay_treatimg EUCERIN CLEANSING C0976839
DISO_to_CHEMmay_treatimg EUCERIN DAILY FACIAL C0976841
DISO_to_CHEMmay_treatimg EUCERIN LOTION,TOP C0976842
DISO_to_CHEMmay_treatimg EUCERITE C0991821
DISO_to_CHEMmay_treatimg LACTIC ACID / UREA 35 %WW TOPICAL LOTION [UREA] C1509755
DISO_to_CHEMmay_treatimg LACTIC ACID / UREA 50 %WW TOPICAL GEL [UREA] C1509817
DISO_to_CHEMmay_treatimg SODIUM LACTATE 5%/UREA 5% LOTION C0980286
DISO_to_CHEMmay_treatimg UREA 10 % TOPICAL CREAM (GRAMS) C0357916
DISO_to_CHEMmay_treatimg UREA 10% OINT C0691900
DISO_to_CHEMmay_treatimg UREA 15% LOTION C0692358
DISO_to_CHEMmay_treatimg UREA 17 g in 85 g TOPICAL CREAM C0691901
DISO_to_CHEMmay_treatimg UREA 20% LOTION C0784817
DISO_to_CHEMmay_treatimg UREA 22% CREAM C0980926
DISO_to_CHEMmay_treatimg UREA 25% LOTION C0693605
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanKRTAP5-1387264
img GENERIF, Score=1000, Pubmed Id: 12234709, UMLKSK CUI: C0079153
HumanKRT103858keratin 10
img OMIM, Score=1000, UMLKSK CUI: C0079153
HumanKRT13848keratin 1
img OMIM, Score=1000, UMLKSK CUI: C0079153
img GENERIF, Score=1000, Pubmed Id: 16361731, UMLKSK CUI: C0079153
HumanGJA12697gap junction protein, alpha 1, 43kDa
img OMIM, Score=790, UMLKSK CUI: C0079153
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0079153Hyperkeratosis, Epidermolytic0self