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Details
Link-It Detail - Disease - Dyskeratosis Congenita
Debug Stats
  • ### Total Build Time: 35 ms 31.119 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 646 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= 1.405 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 6.763 KB
  • CONCEPT_RELATIONSHIPS gt=19 ms Completed: 19 ms rowSize= 6.841 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 13.713 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Dyskeratosis Congenita C0265965
Definition (1)
A predominantly X-linked recessive syndrome characterized by a triad of reticular skin pigmentation, nail dystrophy and leukoplakia of mucous membranes. Oral and dental abnormalities may also be present. Complications are a predisposition to malignancy and bone marrow involvement with pancytopenia. (from Int J Paediatr Dent 2000 Dec;10(4):328-34) The X-linked form is also known as Zinsser-Cole-Engman syndrome and involves the gene which encodes a highly conserved protein called dyskerin.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (3)
img Skin Abnormalities C0037268
img Skin Diseases, Genetic C0037277
img Genetic Diseases, X-Linked C1138434
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 Genetic Diseases, Inborn C09501234img Genetic Diseases, X-Linked C1138434
Relationships (14)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 4
diso_​to_​diso : 5
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 10
associated_​with : 2
location_​of : 1
mapped_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN108img genetic aspects C0017399
DISO_to_PHEN49img genetic aspects C0017399
DISO_to_ANAT36img Telomere C0085187
DISO_to_PHYS33img Mutation C0026882
DISO_to_DISO31img Complication Aspects C1171258
DISO_to_CHEM30img Telomerase C0087071
DISO_to_CHEM28img Nuclear Proteins C0028589
DISO_to_DISO24img Complication Aspects C1171258
DISO_to_CHEM23img Cell Cycle Protein C0243021
DISO_to_CHEM23img Telomerase C0087071
DISO_to_ANATlocation_ofimg Skin C1123023
DISO_to_DISOassociated_withimg Congenital Abnormalities C0000768
DISO_to_DISOassociated_withimg Dermatoliposclerosis C0334061
DISO_to_DISOmapped_toimg HOYERAAL-HREIDARSSON SYNDROME C1846142
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanSBDS51119Shwachman-Bodian-Diamond syndrome
img GENERIF, Score=1000, Pubmed Id: 16529906, UMLKSK CUI: C0265965
HumanTINF226277TERF1 (TRF1)-interacting nuclear factor 2
img GENERIF, Score=1000, Pubmed Id: 18252230, UMLKSK CUI: C0265965
img GENERIF, Score=1000, Pubmed Id: 18669893, UMLKSK CUI: C0265965
HumanTERT7015telomerase reverse transcriptase
img GENERIF, Score=1000, Pubmed Id: 16990594, UMLKSK CUI: C0265965
img GENERIF, Score=1000, Pubmed Id: 17625368, UMLKSK CUI: C0265965
img GENERIF, Score=734, Pubmed Id: 17875000, UMLKSK CUI: C0265965
img GENERIF, Score=1000, Pubmed Id: 15808851, UMLKSK CUI: C0265965
HumanTERC7012telomerase RNA component
img GENERIF, Score=734, Pubmed Id: 12525685, UMLKSK CUI: C0265965
img GENERIF, Score=734, Pubmed Id: 16332973, UMLKSK CUI: C0265965
img GENERIF, Score=1000, Pubmed Id: 17625368, UMLKSK CUI: C0265965
img GENERIF, Score=1000, Pubmed Id: 17640862, UMLKSK CUI: C0265965
img GENERIF, Score=694, Pubmed Id: 19095616, UMLKSK CUI: C0265965
img GENERIF, Score=901, Pubmed Id: 15753647, UMLKSK CUI: C0265965
img GENERIF, Score=1000, Pubmed Id: 15098033, UMLKSK CUI: C0265965
HumanDKC11736dyskeratosis congenita 1, dyskerin
img GENERIF, Score=1000, Pubmed Id: 18802941, UMLKSK CUI: C0265965
img GENERIF, Score=1000, Pubmed Id: 17625368, UMLKSK CUI: C0265965
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0265965Dyskeratosis Congenita0self