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Details
Link-It Detail - Disease - Ichthyosis
Debug Stats
  • ### Total Build Time: 340 ms 49.018 KB
  • CONCEPT_NAME gt=14 ms Completed: 14 ms rowSize= 318 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 296 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=29 ms Completed: 29 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 1.392 KB
  • CONCEPT_CHILDREN gt=15 ms Completed: 15 ms rowSize= 2.287 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.428 KB
  • CONCEPT_RELATIONSHIPS gt=240 ms Completed: 240 ms rowSize= 13.567 KB
  • CONCEPT_GENES gt=34 ms Completed: 34 ms rowSize= 24.389 KB
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.145 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Ichthyosis C0020757
Definition (1)
A group of inherited or acquired skin disorders characterized by a dry, thickened, and scaly skin. The skin changes range from mild to severe.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Keratosis C0022593
img Infant, Newborn, Diseases C0021290
img Skin Abnormalities C0037268
Children (5)
img Ichthyosiform Erythroderma, Congenital C0079583
img Sjogren-Larsson Syndrome C0037231
img Ichthyosis, X-Linked C0079588
img Ichthyosis Vulgaris C0079584
img Ichthyosis Bullosa of Siemens C0432306
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Keratosis C0022593
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Infant, Newborn, Diseases C00212903img Infant, Newborn, Diseases C0021290
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Skin Abnormalities C0037268
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Abnormalities C0037268
Relationships (63)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 4
diso_​to_​diso : 50
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 27
associated_​with : 3
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
isa : 6
location_​of : 1
mapped_​to : 23
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN109img genetic aspects C0017399
DISO_to_PHEN72img genetic aspects C0017399
DISO_to_DISO33img Keratitis C0022568
DISO_to_DISO31img Complete Hearing Loss C0581883
DISO_to_DISO26img CORNEAL INFLAMMATION C0022568
DISO_to_DISO24img Complication Aspects C1171258
DISO_to_DISO23img Deafness C0581883
DISO_to_PHYS23img Mutation C0026882
DISO_to_DISO22img Complication Aspects C1171258
DISO_to_CHEM18img Connexins C0110611
DISO_to_ANAT16img Skin C1123023
DISO_to_CHEM14img Connexins C0110611
DISO_to_DISO13img Cutaneous tumor C0037286
DISO_to_ANAT9img Skin C1123023
DISO_to_PHYS9img Mutation C0026882
DISO_to_DISO8img Acantholysis C0000887
DISO_to_DISO8img Alopecia C0002170
DISO_to_DISO8img Cutaneous tumor C0037286
DISO_to_DISO8img Lipid Metabolism, Inborn Errors C0023772
DISO_to_ANAT7img Epidermis C0014520
DISO_to_CHEM7img Emollients C0013983
DISO_to_CHEM7img Serine Endopeptidases C0036734
DISO_to_DISO7img Alopecia C0002170
DISO_to_DISO7img Intellectual Disability C0025362
DISO_to_DISO7img Multiple congenital anomalies C0000772
Genes (38)

Species:
human : 38
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanKRTAP5-1387264
INFERRED, Score=800, UMLKSK CUI: C0020757
HumanSUMF1285362sulfatase modifying factor 1
img OMIM, Score=1000, UMLKSK CUI: C0020757
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
img GENERIF, Score=1000, Pubmed Id: 18086569, UMLKSK CUI: C0020757
HumanATOD5117188Dermatitis, atopic, 5
img OMIM, Score=1000, UMLKSK CUI: C0020757
HumanATOD3117187Dermatitis, atopic, 3
img OMIM, Score=1000, UMLKSK CUI: C0020757
HumanATOD6114477Dermatitis, atopic, 6
img OMIM, Score=1000, UMLKSK CUI: C0020757
HumanALOXE359344arachidonate lipoxygenase 3
INFERRED, Score=800, UMLKSK CUI: C0020757
HumanSLURP157152secreted LY6/PLAUR domain containing 1
img OMIM, Score=1000, UMLKSK CUI: C0020757
HumanPNPLA257104patatin-like phospholipase domain containing 2
img GENERIF, Score=1000, Pubmed Id: 17187067, UMLKSK CUI: C0020757
HumanABHD551099abhydrolase domain containing 5
INFERRED, Score=800, UMLKSK CUI: C0020757
HumanNSDHL50814NAD(P) dependent steroid dehydrogenase-like
INFERRED, Score=800, UMLKSK CUI: C0020757
HumanVPS33B26276vacuolar protein sorting 33 homolog B (yeast)
img GENERIF, Score=1000, Pubmed Id: 18347289, UMLKSK CUI: C0020757
HumanABCA1226154ATP-binding cassette, sub-family A (ABC1), member 12
INFERRED, Score=800, UMLKSK CUI: C0020757
HumanDOLK22845dolichol kinase
img OMIM, Score=1000, UMLKSK CUI: C0020757
HumanEBP10682emopamil binding protein (sterol isomerase)
img OMIM, Score=1000, UMLKSK CUI: C0020757
HumanSNAP299342synaptosomal-associated protein, 29kDa
img OMIM, Score=1000, UMLKSK CUI: C0020757
img GENERIF, Score=1000, Pubmed Id: 15968592, UMLKSK CUI: C0020757
HumanTGM59333transglutaminase 5
img GENERIF, Score=1000, Pubmed Id: 12230511, UMLKSK CUI: C0020757
HumanTGM17051transglutaminase 1
INFERRED, Score=800, UMLKSK CUI: C0020757
HumanST146768suppression of tumorigenicity 14 (colon carcinoma)
img GENERIF, Score=827, Pubmed Id: 17978729, UMLKSK CUI: C0020757
img OMIM, Score=1000, UMLKSK CUI: C0020757
HumanMAP2K25605mitogen-activated protein kinase kinase 2
img OMIM, Score=1000, UMLKSK CUI: C0020757
HumanPHYH5264phytanoyl-CoA 2-hydroxylase
img OMIM, Score=1000, UMLKSK CUI: C0020757
HumanPEX75191peroxisomal biogenesis factor 7
img OMIM, Score=1000, UMLKSK CUI: C0020757
HumanKRT103858keratin 10
img OMIM, Score=1000, UMLKSK CUI: C0020757
HumanKRT23849keratin 2
img GENERIF, Score=660, Pubmed Id: 17408392, UMLKSK CUI: C0020757
HumanKRT13848keratin 1
img OMIM, Score=1000, UMLKSK CUI: C0020757
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0020757Ichthyosis0self