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Details
Link-It Detail - Disease - Ectodermal Dysplasia 3, Anhidrotic
Debug Stats
  • ### Total Build Time: 25 ms 15.027 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 366 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 265 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=3 ms Completed: 3 ms rowSize= 556 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 4.155 KB
  • CONCEPT_RELATIONSHIPS gt=14 ms Completed: 14 ms rowSize= 8.225 KB
  • CONCEPT_GENES gt=1 ms Completed: 1 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.168 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Ectodermal Dysplasia 3, Anhidrotic C1720965
Definition (1)
An autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR.
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (1)
img Ectodermal Dysplasia C0013575
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
Relationships (19)

Relation Types:
diso_​to_​diso : 18
diso_​to_​phen : 1


Relationships:
none : 3
expanded_​form_​of : 1
manifestation_​of : 15
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO3img ABNORM TEETH C0040427
DISO_to_DISO3img Complication Aspects C1171258
DISO_to_PHEN3img genetic aspects C0017399
DISO_to_DISOmanifestation_ofimg Allelic disorder to autosomal recessive form (224900) C1851877
DISO_to_DISOmanifestation_ofimg Anodontia C0399352
DISO_to_DISOmanifestation_ofimg Caused by mutation in the EDAR-associated death domain gene (EDARADD, 606603.0002) C1969929
DISO_to_DISOmanifestation_ofimg Caused by mutation in the ectodysplasin anhidrotic receptor gene (EDAR, 604095.0005) C1851876
DISO_to_DISOexpanded_form_ofimg Ectodermal Dysplasia 3, Anhidrotic C1720965
DISO_to_DISOmanifestation_ofimg Fine, slow-growing hair C1851875
DISO_to_DISOmanifestation_ofimg Genetic heterogeneity (X-linked form 305100) C1857065
DISO_to_DISOmanifestation_ofimg HYPHIDROSIS C0020620
DISO_to_DISOmanifestation_ofimg Hypodontia C0020608
DISO_to_DISOmanifestation_ofimg Hypotrichosis C0020678
DISO_to_DISOmanifestation_ofimg Intolerance to heat and fever C1857067
DISO_to_DISOmanifestation_ofimg MICRODONTIA C0240340
DISO_to_DISOmanifestation_ofimg Misshapen teeth C1857062
DISO_to_DISOmanifestation_ofimg Onychodysplasia (40%) C1851874
DISO_to_DISOmanifestation_ofimg Smooth, thin, dry skin C1851873
DISO_to_DISOmanifestation_ofimg Sparse eyebrows and eyelashes C1859078
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1720965Ectodermal Dysplasia 3, Anhidrotic0self