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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 2
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Accession:DOID:9007875 term browser browse the term
Synonyms:exact_synonym: KABUK2;   KABUKI SYNDROME - KDM6A;   KDM6A-RELATED CONDITION
 primary_id: MIM:300867


show annotations for term's descendants           Sort by:
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:4,938,757...4,986,907 		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:6,788,361...6,854,539 		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:7,070,910...7,071,766
Ensembl chr  X:7,070,910...7,071,766 		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:7,943,725...8,144,215 		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:7,666,759...7,683,441 		JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: KDM6A-related condition | 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:6,920,374...7,060,027
Ensembl chr  X:6,920,343...7,059,960 		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:8,615,239...8,681,372
Ensembl chr  X:8,615,239...8,682,631 		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:8,490,405...8,594,065
Ensembl chr  X:8,490,344...8,594,375 		JBrowse link
G Mir221 microRNA 221 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:6,023,182...6,023,290
Ensembl chr  X:6,023,182...6,023,290 		JBrowse link
G Mir222 microRNA 222 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:6,022,621...6,022,723
Ensembl chr  X:6,022,621...6,022,723 		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:8,379,569...8,404,019
Ensembl chr  X:8,379,569...8,406,802 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:4,426,071...4,470,200
Ensembl chr  X:4,403,052...4,530,576 		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:4,767,578...4,948,602
Ensembl chr  X:4,767,915...4,948,602 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Kabuki syndrome 36
        Kabuki Syndrome 2 13
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            Otorhinolaryngologic Diseases 1809
              auditory system disease 1073
                inner ear disease 741
                  vestibular disease 111
                    Kabuki syndrome 36
                      Kabuki Syndrome 2 13
paths to the root