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Details
Link-It Detail - Disease - Ectodermal Dysplasia 1, Anhidrotic
Debug Stats
  • ### Total Build Time: 67 ms 34.414 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 428 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 259 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=0 Completed: 0 ms rowSize= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 1,000 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.480 KB
  • CONCEPT_RELATIONSHIPS gt=52 ms Completed: 51 ms rowSize= 13.071 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 12.771 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.168 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Ectodermal Dysplasia 1, Anhidrotic C0162359
Christ-Siemens-Touraine syndrome
Definition (1)
An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN.
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (2)
img Ectodermal Dysplasia C0013575
img Genetic Diseases, X-Linked C1138434
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Ectodermal Dysplasia C0013575
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Ectodermal Dysplasia C0013575
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Ectodermal Dysplasia C0013575
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Genetic Diseases, X-Linked C1138434
Relationships (62)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 60
diso_​to_​phen : 1


Relationships:
none : 4
expanded_​form_​of : 1
inheritance_​type_​of : 1
manifestation_​of : 55
mapped_​to : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN39img genetic aspects C0017399
DISO_to_DISO24img Complication Aspects C1171258
DISO_to_CHEM21img Ectodysplasins C0668727
DISO_to_DISO15img Anodontia C0399352
DISO_to_DISOmanifestation_ofimg ATROPHIC RHINITIS C0035459
DISO_to_DISOmanifestation_ofimg Absent miebomian glands C1844608
DISO_to_DISOmanifestation_ofimg Absent or scanty eyebrows C2677848
DISO_to_DISOmanifestation_ofimg Absent or scanty eyelashes C2677847
DISO_to_DISOmanifestation_ofimg Absent tears C1844607
DISO_to_DISOmanifestation_ofimg Adontia C1844612
DISO_to_DISOmanifestation_ofimg Alae nasi hypoplastic C1837825
DISO_to_DISOmanifestation_ofimg Anhidrosis C0003028
DISO_to_DISOmanifestation_ofimg Atrophic mucosa causing dysphonia C1844625
DISO_to_DISOmanifestation_ofimg Atrophic pharyngeal mucosa C1844623
DISO_to_DISOmanifestation_ofimg Blonde, fine scalp hair C1844622
DISO_to_DISOmanifestation_ofimg Bossed forehead C0221354
DISO_to_DISOmanifestation_ofimg Bull teeth C0266039
DISO_to_DISOmanifestation_ofimg Caused by mutation in the ectodysplasin A gene (ED1, 300451.0001) C1844627
DISO_to_DISOexpanded_form_ofimg Christ-Siemens-Touraine syndrome C0162359
DISO_to_DISOmanifestation_ofimg Conical teeth C0266037
DISO_to_DISOmanifestation_ofimg DERMATITIS ECZEMATOID C0013595
DISO_to_DISOmanifestation_ofimg Decreased palatal depth C1844611
DISO_to_DISOmanifestation_ofimg Depressed nasal root and bridge ('saddle nose') C1844610
DISO_to_DISOmanifestation_ofimg Dry skin C0151908
DISO_to_DISOmanifestation_ofimg Dyspnea C0013404
Genes (6)

Species:
human : 6
SpeciesGeneGeneIdGene NameEvidence
HumanNCF1653361neutrophil cytosolic factor 1
img GENERIF, Score=756, Pubmed Id: 18523147, UMLKSK CUI: C0162359
HumanTAB223118TGF-beta activated kinase 1/MAP3K7 binding protein 2
img GENERIF, Score=1000, Pubmed Id: 16251197, UMLKSK CUI: C0162359
HumanEDAR10913ectodysplasin A receptor
img GENERIF, Score=1000, Pubmed Id: 17970812, UMLKSK CUI: C0162359
img GENERIF, Score=1000, Pubmed Id: 18231121, UMLKSK CUI: C0162359
HumanIKBKG8517inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
img GENERIF, Score=1000, Pubmed Id: 18313693, UMLKSK CUI: C0162359
img GENERIF, Score=1000, Pubmed Id: 16379012, UMLKSK CUI: C0162359
HumanNFKBIA4792nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
img GAD, Score=862, Pubmed Id: 14523047, UMLKSK CUI: C0162359
HumanEDA1896ectodysplasin A
img GENERIF, Score=1000, Pubmed Id: 18427821, UMLKSK CUI: C0162359
img GENERIF, Score=1000, Pubmed Id: 17478381, UMLKSK CUI: C0162359
img GENERIF, Score=1000, Pubmed Id: 12920369, UMLKSK CUI: C0162359
img GENERIF, Score=1000, Pubmed Id: 12673367, UMLKSK CUI: C0162359
img GENERIF, Score=1000, Pubmed Id: 17970812, UMLKSK CUI: C0162359
img GENERIF, Score=707, Pubmed Id: 12930312, UMLKSK CUI: C0162359
img GENERIF, Score=913, Pubmed Id: 15663448, UMLKSK CUI: C0162359
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0162359Ectodermal Dysplasia 1, Anhidrotic0self