Search Ontology:
Human Disease

autosomal dominant dyskeratosis congenita 3

Term ID
DOID:0070018
Synonyms
  • DKCA3
Definition
A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12. https://www.ncbi.nlm.nih.gov/pubmed/18252230
References
Ontology
Human Disease   ( DOID:0070018 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models