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ONTOLOGY REPORT - ANNOTATIONS


Term:Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
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Accession:DOID:9007161 term browser browse the term
Synonyms:exact_synonym: SEMDFA;   progressive spondyloepimetaphyseal dysplasia, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis
 primary_id: OMIM:616723
 alt_id: RDO:9001141
For additional species annotation, visit the Alliance of Genome Resources.


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Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rspry1 ring finger and SPRY domain containing 1 JBrowse link 19 10,770,572 10,826,895 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    Pathological Conditions, Signs and Symptoms 8489
      Pathologic Processes 5981
        Growth Disorders 306
          Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5775
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.