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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:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062
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:9536098 PMID:12482968 PMID:14608645 More... RGD:9588235 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325
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 chr10:10,346,541...10,356,779
Ensembl chr10:10,346,536...10,356,750
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 3:142,130,592...142,169,124
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:24728327 PMID:25741868 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 8:45,116,771...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: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 ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:18414213 PMID:19625956 PMID:20711175 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...9,463,508
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:25972376 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:25972376 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:25972376 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 OMIM:300867
ClinVar Annotator: match by term: Kabuki syndrome 2
OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22197486 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:25972376 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:25972376 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:25972376 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:1,872,581...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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Kabuki syndrome 21
        Kabuki Syndrome 1 9
        Kabuki Syndrome 2 13
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          Otorhinolaryngologic Diseases 1341
            auditory system disease 908
              inner ear disease 645
                vestibular disease 48
                  Kabuki syndrome 21
                    Kabuki Syndrome 1 9
                    Kabuki Syndrome 2 13
paths to the root