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Human Disease

X-linked dyskeratosis congenita

Term ID
DOID:0070025
Synonyms
  • DKCX
  • Zinsser-Cole-Engman syndrome
Definition
A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28. https://www.ncbi.nlm.nih.gov/pubmed/9590285
References
  • MIM:305000
Ontology
Human Disease   ( DOID:0070025 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations