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Metadata
ID DOID:0061284
PURL http://purl.obolibrary.org/obo/DOID_0061284 Copy
Name autosomal recessive dyskeratosis congenita 8
Definition A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the APOLLO gene on chromosome 1p13.2.
https://pubmed.ncbi.nlm.nih.gov/35007328/
Xrefs

MIM:620133

Synonyms

DKCB8 [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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