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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 OMIM
ClinVar
PMID:2309787, PMID:8074143, PMID:25741868, PMID:30290151, PMID:31949312, PMID:32078278 NCBI chr19:43,358,057...43,391,828
Ensembl chr19:43,358,057...43,391,828
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      bone development disease 1330
        osteochondrodysplasia 435
          Saul-Wilson syndrome 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                Saul-Wilson syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.