ONTOLOGY REPORT - ANNOTATIONS


Term:Burn-Mckeown Syndrome
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Accession:DOID:9007068 term browser browse the term
Synonyms:exact_synonym: BMKS;   Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance
 primary_id: MESH:C537411
 alt_id: OMIM:608572;   RDO:0003252
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Burn-Mckeown Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aadac arylacetamide deacetylase JBrowse link 2 150,146,234 150,157,480 RGD:8554872
G Adnp2 ADNP homeobox 2 JBrowse link 18 76,637,415 76,661,186 RGD:8554872
G Atp9b ATPase phospholipid transporting 9B (putative) JBrowse link 18 77,343,551 77,535,608 RGD:8554872
G Ctdp1 CTD phosphatase subunit 1 JBrowse link 18 76,922,913 76,985,095 RGD:8554872
G Galr1 galanin receptor 1 JBrowse link 18 79,243,009 79,258,570 RGD:8554872
G Hsbp1l1 heat shock factor binding protein 1-like 1 JBrowse link 18 76,748,067 76,754,642 RGD:8554872
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 JBrowse link 18 76,808,294 76,880,742 RGD:8554872
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 JBrowse link 1 216,293,087 216,630,339 RGD:8554872
G Mbp myelin basic protein JBrowse link 18 79,326,738 79,437,310 RGD:8554872
G Nfatc1 nuclear factor of activated T-cells 1 JBrowse link 18 77,203,517 77,322,690 RGD:8554872
G Pard6g par-6 family cell polarity regulator gamma JBrowse link 18 76,559,877 76,627,843 RGD:8554872
G Pqlc1 PQ loop repeat containing 1 JBrowse link 18 76,768,466 76,805,773 RGD:8554872
G Rbfa ribosome binding factor A JBrowse link 18 76,704,223 76,714,387 RGD:8554872
G Sall3 spalt-like transcription factor 3 JBrowse link 18 77,572,200 77,591,710 RGD:8554872
G Tmem43 transmembrane protein 43 JBrowse link 4 123,118,468 123,133,610 RGD:8554872
G Txnl4a thioredoxin-like 4A JBrowse link 18 76,725,221 76,740,673 RGD:8554872
RGD:7240710
G Xpc XPC complex subunit, DNA damage recognition and repair factor JBrowse link 4 123,134,457 123,161,985 RGD:8554872
G Zfp236 zinc finger protein 236 JBrowse link 18 79,447,384 79,543,271 RGD:8554872
G Zfp516 zinc finger protein 516 JBrowse link 18 79,768,387 79,857,909 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    syndrome 4220
      Burn-Mckeown Syndrome 19
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      gastrointestinal system disease 4251
        Gastrointestinal Diseases 2349
          intestinal disease 1304
            rectal disease 791
              anus disease 61
                imperforate anus 51
                  Oculootofacial Dysplasia 19
                    Burn-Mckeown Syndrome 19
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.