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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:Au-Kline Syndrome
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Accession:DOID:9003837 term browser browse the term
Definition:AUKS is caused by heterozygous mutation in the HNRNPK gene on chromosome 9q21. (OMIM)
Synonyms:exact_synonym: AUKS;   Au-Kline-Okamoto syndrome;   Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation;   KABUKI-LIKE SYNDROME;   Okamoto Syndrome
 primary_id: MESH:C565736;   OMIM:616580
 alt_id: DOID:9002401



show annotations for term's descendants           Sort by:
Au-Kline Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Au-Kline syndrome
OMIM
CTD
ClinVar
PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 More... NCBI chr17:6,262,936...6,275,001
Ensembl chr17:6,262,998...6,274,997
JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr12:37,807,596...38,004,886
Ensembl chr12:37,808,285...38,004,473
JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chr 4:146,772,483...146,779,376
Ensembl chr 4:146,772,468...146,779,377
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    Developmental Disease 18459
      congenital heart disease 1340
        Au-Kline Syndrome 5
Path 2
Term Annotations click to browse term
  disease 21140
    Developmental Disease 18459
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18320
        Congenital Abnormalities 7478
          Musculoskeletal Abnormalities 3251
            Craniofacial Abnormalities 2595
              Maxillofacial Abnormalities 304
                Jaw Abnormalities 258
                  orofacial cleft 154
                    cleft palate 116
                      Au-Kline Syndrome 5
paths to the root