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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 KAT6A 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
For additional species annotation, visit the Alliance of Genome Resources.


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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: Arboleda-Tham syndrome | ClinVar Annotator: match by term: Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | ClinVar Annotator: match by term: KAT6A syndrome | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 32 OMIM
ClinVar		 PMID:17374998 PMID:25728775 PMID:25728777 PMID:25741868 PMID:26938784 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 18109
    syndrome 9634
      Arboleda-Tham syndrome 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          brain disease 10560
            disease of mental health 7489
              developmental disorder of mental health 4860
                specific developmental disorder 4124
                  intellectual disability 3939
                    autosomal dominant intellectual developmental disorder 349
                      Arboleda-Tham syndrome 1
paths to the root