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ONTOLOGY REPORT - ANNOTATIONS


Term:Kabuki syndrome
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Accession:DOID:0060473 term browser browse the term
Definition:A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. (DO)
Synonyms:exact_synonym: KABUK1;   KABUKI SYNDROME 1;   KMS;   Kabuki Makeup Syndrome;   Kabuki make up syndrome;   Niikawa-Kuroki syndrome;   OMIM:PS147920
 primary_id: MESH:C537705
 alt_id: OMIM:147920;   RDO:0003590
 xref: GARD:6810;   NCI:C124837;   ORDO:2322
For additional species annotation, visit the Alliance of Genome Resources.


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Kabuki syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnmt3b DNA methyltransferase 3 beta JBrowse link 3 149,131,541 149,170,061 RGD:8554872
G Hcfc1 host cell factor C1 JBrowse link X 156,812,012 156,837,227 RGD:8554872
G Kdm6a lysine demethylase 6A JBrowse link X 4,805,493 4,945,788 RGD:11554173
RGD:8554872
G Kmt2a lysine methyltransferase 2A JBrowse link 8 49,110,407 49,185,872 RGD:8554872
G Kmt2b lysine methyltransferase 2B JBrowse link 1 89,022,889 89,042,176 RGD:8554872
G Kmt2d lysine methyltransferase 2D JBrowse link 7 140,507,137 140,542,479 RGD:7240710
RGD:8554872
RGD:11554173
RGD:9588235
G Zbtb24 zinc finger and BTB domain containing 24 JBrowse link 20 46,168,149 46,189,806 RGD:8554872
Kabuki Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chst7 carbohydrate sulfotransferase 7 JBrowse link X 2,623,018 2,657,155 RGD:8554872
G Dipk2b divergent protein kinase domain 2B JBrowse link X 4,691,406 4,743,999 RGD:8554872
G Dusp21 dual specificity phosphatase 21 JBrowse link X 4,956,699 4,957,555 RGD:8554872
G Efhc2 EF-hand domain containing 2 JBrowse link X 5,825,551 6,026,398 RGD:8554872
G Fundc1 FUN14 domain containing 1 JBrowse link X 5,549,468 5,566,125 RGD:8554872
G Kdm6a lysine demethylase 6A JBrowse link X 4,805,493 4,945,788 RGD:7240710
RGD:8554872
G Maoa monoamine oxidase A JBrowse link X 6,554,698 6,620,722 RGD:8554872
G Maob monoamine oxidase B JBrowse link X 6,430,694 6,533,520 RGD:8554872
G Mir221 microRNA 221 JBrowse link X 3,684,480 3,684,588 RGD:8554872
G Mir222 microRNA 222 JBrowse link X 3,683,919 3,684,021 RGD:8554872
G Ndp norrin cystine knot growth factor NDP JBrowse link X 6,791,090 6,815,586 RGD:8554872
G Rp2 RP2 activator of ARL3 GTPase JBrowse link X 2,066,298 2,116,661 RGD:8554872
G Slc9a7 solute carrier family 9 member A7 JBrowse link X 2,434,918 2,615,936 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      Kabuki syndrome 19
        Kabuki Syndrome 2 13
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        sensory system disease 4659
          Otorhinolaryngologic Diseases 1076
            auditory system disease 685
              inner ear disease 494
                vestibular disease 43
                  Kabuki syndrome 19
                    Kabuki Syndrome 2 13
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.