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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;   MIM:PS147920;   NCI:C124837;   ORDO:2322



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Kabuki syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy6 adenylate cyclase 6 ISO ClinVar Annotator: match by term: Kabuki syndrome ClinVar PMID:28492532 NCBI chr 7:129,742,827...129,763,922
Ensembl chr 7:129,742,838...129,763,754
JBrowse link
G Arf3 ADP-ribosylation factor 3 ISO ClinVar Annotator: match by term: Kabuki syndrome ClinVar PMID:28492532 NCBI chr 7:129,886,082...129,912,022
Ensembl chr 7:129,886,082...129,912,002
JBrowse link
G Cacnb3 calcium voltage-gated channel auxiliary subunit beta 3 ISO ClinVar Annotator: match by term: Kabuki syndrome ClinVar PMID:28492532 NCBI chr 7:129,784,799...129,797,074
Ensembl chr 7:129,783,674...129,797,074
JBrowse link
G Ccdc65 coiled-coil domain containing 65 ISO ClinVar Annotator: match by term: Kabuki syndrome ClinVar PMID:28492532 NCBI chr 7:129,857,118...129,870,803
Ensembl chr 7:129,857,247...129,870,803
JBrowse link
G Ddn dendrin ISO ClinVar Annotator: match by term: Kabuki syndrome ClinVar PMID:28492532 NCBI chr 7:129,953,317...129,957,299
Ensembl chr 7:129,953,318...129,957,341
JBrowse link
G Ddx23 DEAD-box helicase 23 ISO ClinVar Annotator: match by term: Kabuki syndrome ClinVar PMID:28492532 NCBI chr 7:129,797,620...129,814,909
Ensembl chr 7:129,797,614...129,814,949
JBrowse link
G Dhh desert hedgehog signaling molecule ISO ClinVar Annotator: match by term: Kabuki syndrome ClinVar PMID:28492532 NCBI chr 7:130,050,910...130,056,406
Ensembl chr 7:130,050,910...130,056,406
JBrowse link
G Fkbp11 FKBP prolyl isomerase 11 ISO ClinVar Annotator: match by term: Kabuki syndrome ClinVar PMID:28492532 NCBI chr 7:129,871,870...129,877,760
Ensembl chr 7:129,871,870...129,875,303
JBrowse link
G Kdm6a lysine demethylase 6A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO
ISS
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Kabuki syndrome
OMIM:147920 | OMIM:300867
DNA:mutations:cds:
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
RGD
PMID:2071175 PMID:3067577 PMID:3913813 PMID:9285441 PMID:9536098 More... RGD:9588235, RGD:155582217 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link
G Prkag1 protein kinase AMP-activated non-catalytic subunit gamma 1 ISO ClinVar Annotator: match by term: Kabuki syndrome ClinVar PMID:28492532 NCBI chr 7:129,963,105...129,980,532
Ensembl chr 7:129,963,105...129,980,561
JBrowse link
G Rhebl1 RHEB like 1 ISO ClinVar Annotator: match by term: Kabuki syndrome ClinVar PMID:28492532 NCBI chr 7:130,026,255...130,031,127
Ensembl chr 7:130,026,341...130,030,248
JBrowse link
G Rnd1 Rho family GTPase 1 ISO ClinVar Annotator: match by term: Kabuki syndrome ClinVar PMID:28492532 NCBI chr 7:129,821,311...129,828,385
Ensembl chr 7:129,821,311...129,828,399
JBrowse link
G Wnt1 Wnt family member 1 ISO ClinVar Annotator: match by term: Kabuki syndrome ClinVar PMID:28492532 NCBI chr 7:129,938,604...129,942,651
Ensembl chr 7:129,938,604...129,942,651
JBrowse link
G Wnt10b Wnt family member 10B ISO ClinVar Annotator: match by term: Kabuki syndrome ClinVar PMID:28492532 NCBI chr 7:129,922,088...129,927,892
Ensembl chr 7:129,922,088...129,927,892
JBrowse link
Kabuki Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:10,346,538...10,356,768
Ensembl chr10:10,346,536...10,356,750
JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:20104584 PMID:25741868 PMID:28492532 NCBI chr12:59,492...103,789
Ensembl chr12:59,819...100,567
JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 PMID:29255178 NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638
JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:11261516 PMID:19370762 PMID:23076834 PMID:23913813 PMID:24728327 More... NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:29255178 NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181
JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 PMID:29255178 NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Kabuki syndrome 1 OMIM
ClinVar
PMID:2071175 PMID:3913813 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
JBrowse link
G Ptcd1 pentatricopeptide repeat domain 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:20818383 PMID:25741868 NCBI chr12:9,445,656...9,463,434
Ensembl chr12:9,445,714...9,463,508
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 chr20:44,943,302...44,965,329
Ensembl chr20:44,947,297...44,963,963
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:2,396,260...2,432,828
Ensembl chr  X:2,393,874...2,432,840
JBrowse link
G Dipk2b divergent protein kinase domain 2B ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:4,205,486...4,274,939
Ensembl chr  X:4,205,490...4,271,574
JBrowse link
G Dusp21 dual specificity phosphatase 21 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:4,488,021...4,488,877
Ensembl chr  X:4,488,021...4,488,877
JBrowse link
G Efhc2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:5,360,499...5,564,004
Ensembl chr  X:5,360,617...5,560,970
JBrowse link
G Fundc1 FUN14 domain containing 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:5,083,635...5,100,293
Ensembl chr  X:5,083,617...5,100,284
JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: Kabuki Syndrome - KDM6A | ClinVar Annotator: match by term: Kabuki syndrome 2 OMIM
ClinVar
PMID:9536098 PMID:11261516 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062
JBrowse link
G Maoa monoamine oxidase A ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593
JBrowse link
G Maob monoamine oxidase B ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:5,907,327...6,010,996
Ensembl chr  X:5,907,266...6,011,003
JBrowse link
G Mir221 microRNA 221 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:3,429,465...3,429,573
Ensembl chr  X:3,429,465...3,429,573
JBrowse link
G Mir222 microRNA 222 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006
JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chr  X:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934
JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:1,872,582...1,916,704
Ensembl chr  X:1,873,306...1,916,688
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:2,214,064...2,395,052
Ensembl chr  X:2,214,441...2,388,012
JBrowse link
G Zfp455l1 zinc finger protein 455 like 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr 1:34,866,934...34,944,939
Ensembl chr 1:34,927,303...34,944,121
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19076
    syndrome 11109
      Kabuki syndrome 36
        Kabuki Syndrome 1 10
        Kabuki Syndrome 2 14
Path 2
Term Annotations click to browse term
  disease 19076
    Pathological Conditions, Signs and Symptoms 13489
      Signs and Symptoms 11037
        Neurologic Manifestations 10284
          sensory system disease 7183
            Otorhinolaryngologic Diseases 1782
              auditory system disease 1039
                inner ear disease 717
                  vestibular disease 109
                    Kabuki syndrome 36
                      Kabuki Syndrome 1 10
                      Kabuki Syndrome 2 14
paths to the root