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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


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
ISS		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Kabuki syndrome | ClinVar Annotator: match by term: Niikawa-Kuroki 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
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 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: KMT2D-related condition | 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 21128
    syndrome 10832
      Kabuki syndrome 22
        Kabuki Syndrome 1 9
        Kabuki Syndrome 2 14
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13332
      Signs and Symptoms 10808
        Neurologic Manifestations 10040
          sensory system disease 6939
            Otorhinolaryngologic Diseases 1734
              auditory system disease 991
                inner ear disease 666
                  vestibular disease 58
                    Kabuki syndrome 22
                      Kabuki Syndrome 1 9
                      Kabuki Syndrome 2 14
paths to the root