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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 16058
    syndrome 6996
      Atkin Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    syndromic intellectual disability 684
                      Mental Retardation, X-Linked 661
                        Atkin Syndrome 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.