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
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Kaufman Oculocerebrofacial Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Faxc failed axon connections homolog, metaxin like GST domain containing JBrowse link 5 36,076,565 36,135,884 RGD:8554872
G Frem2 Fras1 related extracellular matrix protein 2 JBrowse link 2 142,747,501 142,885,604 RGD:8554872
G Slc25a47 solute carrier family 25, member 47 JBrowse link 6 132,762,306 132,767,940 RGD:8554872
G Slc6a9 solute carrier family 6 member 9 JBrowse link 5 136,669,674 136,703,702 RGD:8554872
G Trpc4 transient receptor potential cation channel, subfamily C, member 4 JBrowse link 2 143,433,102 143,605,757 RGD:8554872
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 14823
    syndrome 4218
      Kaufman Oculocerebrofacial Syndrome 6
Path 2
Term Annotations click to browse term
  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
                    Kaufman Oculocerebrofacial Syndrome 6
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.