OBO ID: DOID:0111673
Term Name: Saul-Wilson syndrome Search Ontology:
Synonyms:
  • microcephalic osteodysplastic dysplasia, Saul-Wilson type
  • SWILS
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. https://www.ncbi.nlm.nih.gov/pubmed/30290151
References:
  • OMIM:618150
  • ORDO:85172
  • SNOMEDCT_US_2023_03_01:389197004
  • UMLS_CUI:C1300285
Ontology: Human Disease   ( DOID:0111673 )
Relationships
is a type of:
OTHER Saul-Wilson syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
COG4 Saul-Wilson syndrome 618150
PHENOTYPE No data available

CITATIONS (2)
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