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Summary Literature (0)
DOID:0111673 - Saul-Wilson syndrome

Disease Ontology 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.

Synonyms: microcephalic osteodysplastic dysplasia, Saul-Wilson type, SWILS

Xenbase Genes : cog4

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019407 - microcephalic osteodysplastic dysplasia, Saul-Wilson type


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), bone development disease (is_a)