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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:Arboleda-Tham syndrome
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Accession:DOID:0070062 term browser browse the term
Definition:An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21. (DO)
Synonyms:exact_synonym: ARTHS;   KAT6A syndrome;   MRD32;   autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome;   autosomal dominant mental retardation 32;   autosomal dominant non-syndromic intellectual disability 32
 primary_id: OMIM:616268
 alt_id: DOID:9008160
 xref: ORDO:457193


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Arboleda-Tham syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6a lysine acetyltransferase 6A ISO ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17374998 PMID:23431171 PMID:25728775 PMID:25728777 PMID:25741868 More... NCBI chr16:69,084,914...69,165,923
Ensembl chr16:69,084,914...69,163,606 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    syndrome 10710
      Arboleda-Tham syndrome 1
Path 2
Term Annotations click to browse term
  disease 21112
    disease of anatomical entity 18151
      nervous system disease 13991
        central nervous system disease 12338
          brain disease 11567
            disease of mental health 8226
              developmental disorder of mental health 5471
                specific developmental disorder 4434
                  intellectual disability 4244
                    autosomal dominant intellectual developmental disorder 412
                      Arboleda-Tham syndrome 1
paths to the root