ONTOLOGY REPORT - ANNOTATIONS


Term:Roifman Syndrome
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Accession:DOID:9002458 term browser browse the term
Synonyms:exact_synonym: RFMN;   SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY;   Spondyloepiphseal dysplasia, retinal dystrophy, and antibody deficiency
 primary_id: MESH:C535866;   RDO:0001208
 alt_id: OMIM:616651
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Roifman Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clasp1 cytoplasmic linker associated protein 1 JBrowse link 13 34,365,038 34,584,651 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      Roifman Syndrome 1
Path 2
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            disease of mental health 4323
              developmental disorder of mental health 2594
                specific developmental disorder 1329
                  intellectual disability 1157
                    syndromic intellectual disability 211
                      Mental Retardation, X-Linked 198
                        Roifman Syndrome 1
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