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Disease Ontology Browser
Fanconi anemia complementation group S (DOID:0060979)
Alliance: disease page
Alt IDs: OMIM:617883
Definition: A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
09/24/2024
MGI 6.24
The Jackson Laboratory