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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:Atkin Syndrome
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Accession:DOID:9004603 term browser browse the term
Synonyms:exact_synonym: Atkin Flaitz Patil Smith syndrome;   Atkin-Flaitz syndrome;   X-linked mental retardation syndrome, Atkin type;   X-linked mental retardation, Atkin type;   X-linked mental retardation, nonspecific;   X-linked mental retardation, nonspecific, type 1
 primary_id: MESH:C538195
 alt_id: OMIM:300431;   RDO:0004138
For additional species annotation, visit the Alliance of Genome Resources.


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Atkin Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Mental retardation, X-linked, nonspecific
ClinVar Annotator: match by term: Mental retardation X-linked, Atkin type
ClinVar PMID:2673329 PMID:3177466 PMID:7943039 PMID:8236453 PMID:9628581 PMID:15197169 PMID:15669143 PMID:18414213 PMID:20473311 PMID:23020937 PMID:23674175 PMID:23934111 PMID:24306141 PMID:25741868 PMID:25914188 PMID:26467025 PMID:26539891 PMID:26544041 PMID:26733290 PMID:26793055 PMID:26795593 PMID:28220259 PMID:28295041 PMID:28492532 PMID:28815955 NCBI chr  X:22,212,137...22,293,810
Ensembl chr  X:22,212,132...22,294,402
JBrowse link
G Rad51c RAD51 paralog C ISO ClinVar Annotator: match by term: Mental retardation X-linked, Atkin type ClinVar PMID:20400964 PMID:21990120 PMID:22006311 PMID:22538716 PMID:24139550 PMID:24315737 PMID:24549055 PMID:24800917 PMID:25452441 PMID:25741868 PMID:26261251 PMID:26681312 PMID:28123851 PMID:28152038 PMID:28492532 PMID:28905878 PMID:29053726 PMID:29255180 NCBI chr10:74,697,713...74,724,004
Ensembl chr10:74,697,716...74,724,472
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    syndrome 7010
      Atkin Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        central nervous system disease 9050
          brain disease 8375
            disease of mental health 6052
              developmental disorder of mental health 3165
                specific developmental disorder 2344
                  intellectual disability 2167
                    syndromic intellectual disability 687
                      Mental Retardation, X-Linked 664
                        Atkin Syndrome 2
paths to the root