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ONTOLOGY REPORT - ANNOTATIONS


Term:Kaufman Oculocerebrofacial Syndrome
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Accession:DOID:9002460 term browser browse the term
Synonyms:exact_synonym: BLEPHAROPHIMOSIS-PTOSIS-INTELLECTUAL DISABILITY SYNDROME;   BLEPHAROPHIMOSIS-PTOSIS-MENTAL RETARDATION SYNDROME;   BPID SYNDROME;   BPIDS;   KOS
 primary_id: MESH:C537013
 alt_id: OMIM:244450;   RDO:0002759;   RDO:9000867
For additional species annotation, visit the Alliance of Genome Resources.


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Kaufman Oculocerebrofacial Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ube3b ubiquitin protein ligase E3B JBrowse link 12 47,946,691 47,991,973 RGD:8554872
RGD:11554173
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    syndrome 4713
      Kaufman Oculocerebrofacial Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        central nervous system disease 6931
          brain disease 6435
            disease of mental health 4324
              developmental disorder of mental health 2591
                specific developmental disorder 1759
                  intellectual disability 1589
                    Kaufman Oculocerebrofacial 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.