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Details
Link-It Detail - Disease - Incontinentia Pigmenti
Debug Stats
  • ### Total Build Time: 121 ms 25.313 KB
  • CONCEPT_NAME gt=13 ms Completed: 13 ms rowSize= 397 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 468 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=2 ms Completed: 2 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=9 ms Completed: 9 ms rowSize= 1.832 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=7 ms Completed: 7 ms rowSize= 8.043 KB
  • CONCEPT_RELATIONSHIPS gt=69 ms Completed: 69 ms rowSize= 6.666 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 6.553 KB
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=2 ms Completed: 2 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Incontinentia Pigmenti C0021171
Bloch Sulzberger syndrome
Definition (1)
A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (4)
img Skin Abnormalities C0037268
img Skin Diseases, Genetic C0037277
img Pigmentation Disorders C0549567
img Abnormalities, Multiple C0000772
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Skin Abnormalities C0037268
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 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 C00372744img Pigmentation Disorders C0549567
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
Relationships (14)

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


Relationships:
none : 12
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN49img genetic aspects C0017399
DISO_to_PHEN43img genetic aspects C0017399
DISO_to_DISO32img Complication Aspects C1171258
DISO_to_DISO27img Complication Aspects C1171258
DISO_to_CHEM25img I-kappa B Kinase C0663914
DISO_to_DISO8img ABNORM TEETH C0040427
DISO_to_DISO7img Deletion, Sequence C0162773
DISO_to_DISO7img Sequence Deletion C0162773
DISO_to_ANAT6img Skin C1123023
DISO_to_CHEM5img NF-kappa B C0079904
DISO_to_DISO5img Retinal Diseases C0035309
DISO_to_PHYS5img Mutation C0026882
DISO_to_DISOpermuted_term_ofimg Bloch Sulzberger syndrome C0021171
DISO_to_DISOmapped_toimg Incontinentia pigmenti, familial male-lethal type C2930820
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanIKBKG8517inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
img GENERIF, Score=1000, Pubmed Id: 17401323, UMLKSK CUI: C0021171
img GENERIF, Score=1000, Pubmed Id: 11673821, UMLKSK CUI: C0021171
img GENERIF, Score=840, Pubmed Id: 11709543, UMLKSK CUI: C0021171
img GENERIF, Score=1000, Pubmed Id: 17910706, UMLKSK CUI: C0021171
img GENERIF, Score=694, Pubmed Id: 19149237, UMLKSK CUI: C0021171
HumanCCL116356chemokine (C-C motif) ligand 11
img GENERIF, Score=1000, Pubmed Id: 11966763, UMLKSK CUI: C0021171
HumanNFKB14790nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
img GENERIF, Score=1000, Pubmed Id: 11859566, UMLKSK CUI: C0021171
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0021171Incontinentia Pigmenti0self