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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Saul-Wilson syndrome
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Accession:DOID:0111673 term browser browse the term
Definition:A rare skeletal dysplasia with characteristic dysmorphic and radiographic findings, as well as early developmental delay, primarily involving speech, with eventual normal cognition. Clinical findings include marked short stature, prominent forehead with an enlarged anterior fontanel, prominent eyes with cataracts, narrow nasal bridge with a convex nasal ridge, micrognathia, clubfoot, brachydactyly, and short distal phalanges of fingers.
Synonyms:exact_synonym: MICROCEPHALIC OSTEODYSPLASTIC DYSPLASIA;   SWILS;   microcephalic osteodysplastic dysplasia, Saul-Wilson type
 primary_id: OMIM:618150
 xref: ORDO:85172
For additional species annotation, visit the Alliance of Genome Resources.



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Saul-Wilson syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cog4 component of oligomeric golgi complex 4 ISO ClinVar Annotator: match by term: SAUL-WILSON SYNDROME
ClinVar Annotator: match by term: Microcephalic osteodysplastic dysplasia, Saul-Wilson type
OMIM
ClinVar
PMID:2309787 PMID:8074143 PMID:25741868 PMID:30290151 PMID:31949312 More... NCBI chr19:38,820,478...38,854,803
Ensembl chr19:38,820,501...38,854,796
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    Developmental Disease 10942
      bone development disease 1421
        osteochondrodysplasia 477
          Saul-Wilson syndrome 1
Path 2
Term Annotations click to browse term
  disease 17240
    Developmental Disease 10942
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9477
        genetic disease 8979
          monogenic disease 7140
            autosomal genetic disease 6287
              autosomal dominant disease 4462
                Saul-Wilson syndrome 1
paths to the root