ONTOLOGY REPORT - ANNOTATIONS


Term:SAUL-WILSON SYNDROME
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Accession:DOID:9005706 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
 primary_id: OMIM:618150
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SAUL-WILSON SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cog4 component of oligomeric golgi complex 4 JBrowse link 19 43,358,057 43,391,828 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      bone development disease 896
        osteochondrodysplasia 406
          SAUL-WILSON SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      Skin and Connective Tissue Diseases 3931
        connective tissue disease 2587
          bone disease 2126
            bone development disease 896
              osteochondrodysplasia 406
                SAUL-WILSON SYNDROME 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.