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Metadata
ID DOID:0070015
Name autosomal recessive dyskeratosis congenita 1
Definition A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14.
https://www.ncbi.nlm.nih.gov/pubmed/17507419
Xrefs

OMIM:224230

Synonyms

DKCB1 [EXACT]

Parent Relationships

is_a dyskeratosis congenita

is_a autosomal recessive disease

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