OBO ID: DOID:0070015
Term Name: autosomal recessive dyskeratosis congenita 1 Search Ontology:
Synonyms:
  • DKCB1
Definition: A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of NOLA3 on chromosome 15q14. https://www.ncbi.nlm.nih.gov/pubmed/17507419
References:
Ontology: Human Disease   (DOID:0070015)
OTHER autosomal recessive dyskeratosis congenita 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NOP10 Dyskeratosis congenita, autosomal recessive 1 224230
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None