FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Saul-Wilson syndrome ID (Ontology) DOID:0111673 (Human Disease)
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.
Also Known As "microcephalic osteodysplastic dysplasia, Saul-Wilson type" ; "SWILS"
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DO.org
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 Genes
 Saul-Wilson syndrome       1
 for disease ribbon | Saul-Wilson syndrome       1
 model of | Saul-Wilson syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
bone disease                    |
 |__bone development disease____|
                                Saul-Wilson syndrome  1 rec.
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Is a autosomal dominant disease
bone development disease
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Synonyms
  • "microcephalic osteodysplastic dysplasia, Saul-Wilson type" EXACT
    "SWILS" EXACT OMO:0003012
Secondary IDs
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MIM:618150
ORDO:85172
SNOMEDCT_US_2023_03_01:389197004
UMLS_CUI:C1300285