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Details
Link-It Detail - Disease - Ichthyosis Vulgaris
Debug Stats
  • ### Total Build Time: 108 ms 22.695 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 336 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 323 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= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=15 ms Completed: 15 ms rowSize= 986 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 6.732 KB
  • CONCEPT_RELATIONSHIPS gt=69 ms Completed: 69 ms rowSize= 9.103 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 3.824 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Ichthyosis Vulgaris C0079584
Definition (1)
Most common form of ICHTHYOSIS characterized by prominent scaling especially on the exterior surfaces of the extremities. It is inherited as an autosomal dominant trait.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (2)
img Ichthyosis C0020757
img Skin Diseases, Genetic C0037277
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Ichthyosis C0020757
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Infant, Newborn, Diseases C00212904img Ichthyosis C0020757
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Ichthyosis C0020757
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 (17)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 5
diso_​to_​diso : 8
diso_​to_​phen : 1
diso_​to_​phys : 1


Relationships:
none : 4
associated_​with : 3
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
isa : 1
location_​of : 1
mapped_​to : 1
may_​treat : 4
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN32img genetic aspects C0017399
DISO_to_CHEM27img Intermediate Filament Proteins C0021769
DISO_to_DISO19img Dermatitis, Atopic C0011615
DISO_to_PHYS17img Mutation C0026882
DISO_to_ANATis_associated_anatomic_site_ofimg Integumentary System C0037267
DISO_to_ANATlocation_ofimg Skin C1123023
DISO_to_CHEMmay_treatimg AMMONIUM LACTATE 5% LOTION C0978074
DISO_to_CHEMmay_treatimg ammonium lactate C0718495
DISO_to_CHEMmay_treatimg ammonium lactate 120 MG/ML Topical Cream C1588648
DISO_to_CHEMmay_treatimg ammonium lactate 120 MG/ML Topical Lotion C0687885
DISO_to_DISOisaimg ADI - Autosomal dominant ichthyosis vulgaris C0432300
DISO_to_DISOassociated_withimg Congenital Abnormalities C0000768
DISO_to_DISOis_finding_of_diseaseimg Cutaneous Involvement C1511567
DISO_to_DISOassociated_withimg Dehydrated structure C0011174
DISO_to_DISOassociated_withimg Hyperkeratosis C0870082
DISO_to_DISOpermuted_term_ofimg Ichthyosis Vulgaris C0079584
DISO_to_DISOmapped_toimg Osteosclerosis with ichthyosis and premature ovarian failure C1864942
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanFLG2312filaggrin
img GENERIF, Score=1000, Pubmed Id: 18239616, UMLKSK CUI: C0079584
img OMIM, Score=1000, UMLKSK CUI: C0079584
img GENERIF, Score=1000, Pubmed Id: 18200065, UMLKSK CUI: C0079584
img OMIM, Score=1000, UMLKSK CUI: C0079584
img GENERIF, Score=1000, Pubmed Id: 17417636, UMLKSK CUI: C0079584
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0079584Ichthyosis Vulgaris0self