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Details
Link-It Detail - Disease - Ectodermal Dysplasia
Debug Stats
  • ### Total Build Time: 88 ms 46.458 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 547 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=5 ms Completed: 5 ms rowSize= 1.402 KB
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 3.190 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 6.760 KB
  • CONCEPT_RELATIONSHIPS gt=63 ms Completed: 63 ms rowSize= 13.651 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 19.167 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Ectodermal Dysplasia C0013575
Definition (1)
A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (3)
img Skin Abnormalities C0037268
img Skin Diseases, Genetic C0037277
img Abnormalities, Multiple C0000772
Children (7)
img Pachyonychia Congenita C0265334
img Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive C0406702
img Focal Dermal Hypoplasia C0016395
img Ectodermal Dysplasia 1, Anhidrotic C0162359
img Ectodermal Dysplasia 3, Anhidrotic C1720965
img Neurocutaneous Syndromes C0265316
img Ellis-Van Creveld Syndrome C0013903
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 Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
Relationships (137)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 8
diso_​to_​diso : 121
diso_​to_​phen : 2
diso_​to_​phys : 3


Relationships:
none : 35
classifies : 2
isa : 13
mapped_​to : 86
permuted_​term_​of : 1
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN212img genetic aspects C0017399
DISO_to_PHEN160img genetic aspects C0017399
DISO_to_DISO88img Complication Aspects C1171258
DISO_to_DISO82img Complication Aspects C1171258
DISO_to_DISO43img CL - Cleft lip C0008924
DISO_to_DISO42img Cleft Palate C0008925
DISO_to_DISO40img Abnormalities, Multiple C0000772
DISO_to_PHYS36img Mutation C0026882
DISO_to_DISO33img Abnormalities, Multiple C0000772
DISO_to_DISO31img Anodontia C0399352
DISO_to_CHEM29img Proteins, Tumor Suppressor C0597611
DISO_to_PHYS29img Mutation C0026882
DISO_to_CHEM27img Membrane Associated Proteins C0025252
DISO_to_DISO26img 4-12 CONGENITAL ANOMALIES OF THE LIMBS C0206762
DISO_to_DISO26img Anodontia C0399352
DISO_to_CHEM25img Ectodysplasins C0668727
DISO_to_CHEM22img Factor, Trans-Acting C0040627
DISO_to_CHEM20img Factor, Trans-Acting C0040627
DISO_to_PHYS20img Missense Mutation C0599155
DISO_to_ANAT19img Scalp C0036270
DISO_to_CHEM19img Phosphoprotein C0031689
DISO_to_DISO19img HYPHIDROSIS C0020620
DISO_to_DISO18img DEFIC SYNDROME IMMUNOL C0021051
DISO_to_CHEM17img TRANSCRIPTION FACTOR C0040648
DISO_to_DISO17img Cleft Palate C0008925
Genes (117)

Species:
human : 117
Page Size
Current 25
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SpeciesGeneGeneIdGene NameEvidence
HumanNCF1653361neutrophil cytosolic factor 1
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanSPRED1161742sprouty-related, EVH1 domain containing 1
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanEVC2132884Ellis van Creveld syndrome 2
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanKRTAP17-183902
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanINHBE83729inhibin, beta E
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanWNT10A80326wingless-type MMTV integration site family, member 10A
img GENERIF, Score=861, Pubmed Id: 17847007, UMLKSK CUI: C0013575
HumanPORCN64840porcupine homolog (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanEDA2R60401ectodysplasin A2 receptor
img GENERIF, Score=660, Pubmed Id: 12270937, UMLKSK CUI: C0013575
HumanRPTOR57521regulatory associated protein of MTOR, complex 1
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanNLGN4X57502neuroligin 4, X-linked
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanADAP255803ArfGAP with dual PH domains 2
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanNLRP255655NLR family, pyrin domain containing 2
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanAGGF155109angiogenic factor with G patch and FHA domains 1
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanDDIT454541DNA-damage-inducible transcript 4
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanNLGN354413neuroligin 3
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanIL23A51561interleukin 23, alpha subunit p19
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanPPP1R15A23645protein phosphatase 1, regulatory subunit 15A
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanSUZ1223512SUZ12 polycomb repressive complex 2 subunit
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanTAB223118TGF-beta activated kinase 1/MAP3K7 binding protein 2
img GENERIF, Score=1000, Pubmed Id: 16527194, UMLKSK CUI: C0013575
HumanSPINK511005serine peptidase inhibitor, Kazal type 5
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanEDAR10913ectodysplasin A receptor
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanRGS69628regulator of G-protein signaling 6
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanNRXN19378neurexin 1
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanSNAP299342synaptosomal-associated protein, 29kDa
INFERRED, Score=800, UMLKSK CUI: C0013575
HumanIQGAP18826IQ motif containing GTPase activating protein 1
INFERRED, Score=800, UMLKSK CUI: C0013575
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0013575Ectodermal Dysplasia0self