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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 non-syndromic intellectual disability 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: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
ClinVar Annotator: match by term: Mental retardation, autosomal dominant 32
OMIM
ClinVar
PMID:17374998 PMID:25728775 PMID:25728777 PMID:25741868 PMID:26938784 PMID:27133397 PMID:28492532 NCBI chr16:73,942,669...74,020,750
Ensembl chr16:73,943,455...74,023,005
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      Arboleda-Tham syndrome 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              developmental disorder of mental health 4277
                specific developmental disorder 3535
                  intellectual disability 3388
                    non-syndromic intellectual disability 402
                      autosomal dominant non-syndromic intellectual disability 308
                        Arboleda-Tham syndrome 1
paths to the root