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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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: KMS;   Kabuki make up syndrome;   Kabuki makeup syndrome;   Niikawa-Kuroki syndrome
 primary_id: MESH:C537705
 xref: GARD:6810;   NCI:C124837;   OMIM:PS147920;   ORDO:2322
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Kabuki syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm6a lysine demethylase 6A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:4,805,493...4,945,788
Ensembl chr  X:4,806,277...4,945,944
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Kabuki syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:147920
ClinVar
CTD
PMID:3067577, PMID:9285441, PMID:12482968, PMID:14608645, PMID:14699623, PMID:16603732, PMID:18414213, PMID:19625956, PMID:20711175, PMID:21280141, PMID:21607748, PMID:21658225, PMID:21671394, PMID:22126750, PMID:22304445, PMID:23320472, PMID:23757202, PMID:23913813, PMID:24633898, PMID:24728327, PMID:25741868, PMID:25755104, PMID:25896430, PMID:25972376, PMID:26049589, PMID:26194542, PMID:26300940, PMID:26467025, PMID:26512256, PMID:26785492, PMID:26898171, PMID:27257180, PMID:27302555, PMID:27353043, PMID:27568880, PMID:27573763, PMID:27620904, PMID:27778401, PMID:27991736, PMID:28256057, PMID:28295206, PMID:28475860, PMID:28492532, PMID:28884889, PMID:28884922, PMID:29255178, PMID:29304373, PMID:29846842, PMID:30107592, PMID:24633898 RGD:9588235 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
Kabuki Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3b DNA methyltransferase 3 beta ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868, PMID:28492532, PMID:29255178 NCBI chr 3:149,131,541...149,170,061
Ensembl chr 3:149,131,785...149,208,786
JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868, PMID:29255178 NCBI chr  X:156,812,012...156,837,227
Ensembl chr  X:156,812,064...156,837,227
JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:24728327, PMID:25741868 NCBI chr  X:4,805,493...4,945,788
Ensembl chr  X:4,806,277...4,945,944
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868, PMID:29255178 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868, PMID:29255178 NCBI chr 1:89,022,889...89,042,176
Ensembl chr 1:89,023,200...89,042,176
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar
OMIM
PMID:3067577, PMID:9285441, PMID:12482968, PMID:14608645, PMID:14699623, PMID:16603732, PMID:18414213, PMID:19625956, PMID:20711175, PMID:21280141, PMID:21607748, PMID:21658225, PMID:21671394, PMID:21766738, PMID:22126750, PMID:22304445, PMID:23320472, PMID:23757202, PMID:23913813, PMID:24033266, PMID:24633898, PMID:24728327, PMID:24759409, PMID:25281733, PMID:25326635, PMID:25326637, PMID:25741868, PMID:25755104, PMID:25896430, PMID:25972376, PMID:26049589, PMID:26194542, PMID:26300940, PMID:26467025, PMID:26512256, PMID:26898171, PMID:26938784, PMID:27257180, PMID:27302555, PMID:27353043, PMID:27568880, PMID:27573763, PMID:27620904, PMID:27778401, PMID:27991736, PMID:28256057, PMID:28295206, PMID:28475860, PMID:28492532, PMID:28884889, PMID:28884922, PMID:29255178, PMID:29300383, PMID:30107592, PMID:30143558, PMID:30311386, PMID:31395954, PMID:32083401 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Zbtb24 zinc finger and BTB domain containing 24 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868, PMID:28492532, PMID:29255178 NCBI chr20:46,168,149...46,189,806
Ensembl chr20:46,168,177...46,189,806
JBrowse link
Kabuki Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst7 carbohydrate sulfotransferase 7 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:2,623,018...2,657,155
Ensembl chr  X:2,623,024...2,657,155
JBrowse link
G Dipk2b divergent protein kinase domain 2B ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:4,691,406...4,743,999
Ensembl chr  X:4,691,172...4,739,890
JBrowse link
G Dusp21 dual specificity phosphatase 21 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:4,956,699...4,957,555
Ensembl chr  X:4,956,699...4,957,529
JBrowse link
G Efhc2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:5,825,551...6,026,398
Ensembl chr  X:5,825,711...6,026,398
JBrowse link
G Fundc1 FUN14 domain containing 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:5,549,468...5,566,125
Ensembl chr  X:5,549,419...5,566,127
JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by OMIM:300867
ClinVar Annotator: match by term: Kabuki syndrome 2
OMIM
ClinVar
PMID:22197486, PMID:23076834, PMID:23913813, PMID:24664873, PMID:24728327, PMID:24759409, PMID:25326635, PMID:25326637, PMID:25741868, PMID:25972376, PMID:26633542, PMID:27302555, PMID:27777708, PMID:28492532, PMID:28708303, PMID:29300383 NCBI chr  X:4,805,493...4,945,788
Ensembl chr  X:4,806,277...4,945,944
JBrowse link
G Maoa monoamine oxidase A ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:6,554,698...6,620,722
Ensembl chr  X:6,554,698...6,620,722
JBrowse link
G Maob monoamine oxidase B ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:6,430,694...6,533,520
Ensembl chr  X:6,430,594...6,533,534
JBrowse link
G Mir221 microRNA 221 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:3,684,480...3,684,588
Ensembl chr  X:3,684,480...3,684,588
JBrowse link
G Mir222 microRNA 222 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:3,683,919...3,684,021
Ensembl chr  X:3,683,919...3,684,021
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:6,791,090...6,815,586
Ensembl chr  X:6,791,136...6,815,583
Ensembl chr  X:6,791,136...6,815,583
JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:2,066,298...2,116,661
Ensembl chr  X:2,064,486...2,116,656
JBrowse link
G Slc9a7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:2,434,918...2,615,936
Ensembl chr  X:2,435,305...2,614,770
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Kabuki syndrome 19
        Kabuki Syndrome 1 7
        Kabuki Syndrome 2 13
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        sensory system disease 5213
          Otorhinolaryngologic Diseases 1190
            auditory system disease 754
              inner ear disease 527
                vestibular disease 47
                  Kabuki syndrome 19
                    Kabuki Syndrome 1 7
                    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.