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Metadata
ID DOID:0111092
Name Fanconi anemia complementation group P
Definition A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3.
https://www.ncbi.nlm.nih.gov/pubmed/21240277, https://www.ncbi.nlm.nih.gov/pubmed/21240275
Xrefs

MIM:613951

Synonyms

FANCP [EXACT]

Parent Relationships

is_a Fanconi anemia

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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