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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

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Term Annotations click to browse term
  disease 14759
    Pathological Conditions, Signs and Symptoms 7254
      Pathologic Processes 4755
        Growth Disorders 236
          Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type 1
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