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Disease Ontology Browser
Saul-Wilson syndrome (DOID:0111673)
Alliance: disease page
Synonyms: microcephalic osteodysplastic dysplasia, Saul-Wilson type; SWILS
Alt IDs: OMIM:618150, ORDO:85172, UMLS_CUI:C1300285
Definition: A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1.

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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory