Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Disease - Ichthyosiform Erythroderma, Congenital
Debug Stats
  • ### Total Build Time: 62 ms 27.727 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 418 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 554 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 986 bytes
  • CONCEPT_CHILDREN gt=14 ms Completed: 14 ms rowSize= 1.408 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 6.732 KB
  • CONCEPT_RELATIONSHIPS gt=15 ms Completed: 15 ms rowSize= 5.637 KB
  • CONCEPT_GENES gt=21 ms Completed: 21 ms rowSize= 10.654 KB
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.172 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Ichthyosiform Erythroderma, Congenital C0079583
Alligator skin
Definition (1)
Designation for several severe forms of ichthyosis, present at birth, that are characterized by hyperkeratotic scaling. Infants may be born encased in a collodion membrane which begins shedding within 24 hours. This is followed in about two weeks by persistent generalized scaling. The forms include bullous (HYPERKERATOSIS, EPIDERMOLYTIC), non-bullous (ICHTHYOSIS, LAMELLAR), wet type, and dry type.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Ichthyosis C0020757
img Skin Diseases, Genetic C0037277
Children (3)
img Ichthyosis, Lamellar C0079154
img Hyperkeratosis, Epidermolytic C0079153
img Netherton Syndrome C0265962
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 (11)

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


Relationships:
none : 9
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN48img genetic aspects C0017399
DISO_to_PHEN28img genetic aspects C0017399
DISO_to_DISO15img Complication Aspects C1171258
DISO_to_DISO13img LIPID METAB INBORN ERR C0023772
DISO_to_PHYS12img Mutation C0026882
DISO_to_DISO11img Muscular Diseases C0026848
DISO_to_CHEM10img Carrier Protein C0007292
DISO_to_ANAT8img Hair C0018494
DISO_to_PHYS8img Mutation C0026882
DISO_to_DISOpermuted_term_ofimg Alligator skin C0079583
DISO_to_DISOmapped_toimg Triglyceride storage disease with ichthyosis C0268238
Genes (14)

Species:
human : 14
SpeciesGeneGeneIdGene NameEvidence
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
img OMIM, Score=882, UMLKSK CUI: C0079583
HumanKRTAP5-1387264
INFERRED, Score=800, UMLKSK CUI: C0079583
HumanALOXE359344arachidonate lipoxygenase 3
INFERRED, Score=800, UMLKSK CUI: C0079583
HumanABHD551099abhydrolase domain containing 5
INFERRED, Score=800, UMLKSK CUI: C0079583
HumanNSDHL50814NAD(P) dependent steroid dehydrogenase-like
img OMIM, Score=1000, UMLKSK CUI: C0079583
HumanABCA1226154ATP-binding cassette, sub-family A (ABC1), member 12
INFERRED, Score=800, UMLKSK CUI: C0079583
HumanEBP10682emopamil binding protein (sterol isomerase)
img OMIM, Score=1000, UMLKSK CUI: C0079583
HumanTGM17051transglutaminase 1
INFERRED, Score=800, UMLKSK CUI: C0079583
HumanKRT103858keratin 10
INFERRED, Score=800, UMLKSK CUI: C0079583
HumanKRT13848keratin 1
INFERRED, Score=800, UMLKSK CUI: C0079583
HumanGJA12697gap junction protein, alpha 1, 43kDa
INFERRED, Score=800, UMLKSK CUI: C0079583
HumanERCC32071excision repair cross-complementing rodent repair deficiency, complementation group 3
img OMIM, Score=882, UMLKSK CUI: C0079583
HumanERCC22068excision repair cross-complementing rodent repair deficiency, complementation group 2
img OMIM, Score=882, UMLKSK CUI: C0079583
HumanALOX12B242arachidonate 12-lipoxygenase, 12R type
img GENERIF, Score=861, Pubmed Id: 18347291, UMLKSK CUI: C0079583
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0079583Ichthyosiform Erythroderma, Congenital0self