Saul-Wilson syndrome

Summary
Synonym
  • SWILS
  • microcephalic osteodysplastic dysplasia, Saul-Wilson type
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.
Super Class
autosomal dominant disease bone development disease
External Links
Disease Ontology
DOID:0111673
Mondo Disease Ontology
UMLS
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
25839 COG4 component of oligomeric golgi complex 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
856220 COG4 Golgi transport complex subunit COG4
The Human Phenotype Ontology
Displaying entries 31 - 40 of 49 in total
HPO ID HPO Term
HP:0001875 Neutropenia
HP:0002119 Ventriculomegaly
HP:0002176 Spinal cord compression
HP:0002673 Coxa valga
HP:0003015 Flared metaphysis
HP:0003067 Madelung deformity
HP:0003301 Irregular vertebral endplates
HP:0003396 Syringomyelia
HP:0003577 Congenital onset
HP:0005328 Progeroid facial appearance
Displaying 1 entry
Gene ID Gene Symbol Description
25839 COG4 component of oligomeric golgi complex 4

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024