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Metadata
ID DOID:0070022
Name autosomal recessive dyskeratosis congenita 5
Definition A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33.
https://www.ncbi.nlm.nih.gov/pubmed/19461895
Xrefs

MIM:615190

Synonyms

DKCB5 [EXACT]

Parent Relationships

is_a dyskeratosis congenita

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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