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Details
Link-It Detail - Disease - Ichthyosis Bullosa of Siemens
Debug Stats
  • ### Total Build Time: 95 ms 19.423 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 356 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 470 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=23 ms Completed: 23 ms rowSize= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=9 ms Completed: 9 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=39 ms Completed: 39 ms rowSize= 6.584 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 2.897 KB
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.163 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Ichthyosis Bullosa of Siemens C0432306
Definition (1)
An autosomal dominant form of ichthyosis characterized by generalized reddening of the skin (ERYTHEMA) and widespread blistering. The disease shows similar, but somewhat milder, clinical and histopathological findings to those in HYPERKERATOSIS, EPIDERMOLYTIC and is associated with the gene that encodes KERATIN-2A.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (2)
img Skin Diseases, Genetic C0037277
img Ichthyosis C0020757
Ancestral Roots
RootRoot Plus OneDepthParent
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
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
Relationships (12)

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


Relationships:
none : 7
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
permuted_​term_​of : 1
related_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM1img Keratin-2 C1721010
DISO_to_DISO1img Blister C0005758
DISO_to_DISO1img Dermatitis, Atopic C0011615
DISO_to_DISO1img Family Health C0600220
DISO_to_DISO1img Ichthyosiform Erythroderma, Congenital C0079583
DISO_to_DISO1img Keratosis C0022593
DISO_to_PHEN1img genetic aspects C0017399
DISO_to_ANATis_associated_anatomic_site_ofimg Integumentary System C0037267
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Skin C1123023
DISO_to_DISOis_finding_of_diseaseimg Cutaneous Involvement C1511567
DISO_to_DISOrelated_toimg ICHTHYOSIS EXFOLIATIVA C1838440
DISO_to_DISOpermuted_term_ofimg Ichthyosis Bullosa of Siemens C0432306
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanGNAS2778GNAS complex locus
img OMIM, Score=726, UMLKSK CUI: C0432306
HumanSLC26A21836solute carrier family 26 (anion exchanger), member 2
img OMIM, Score=756, UMLKSK CUI: C0432306
img OMIM, Score=756, UMLKSK CUI: C0432306
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0432306Ichthyosis Bullosa of Siemens0self