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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:9536098 More... NCBI chr  X:21,254,799...21,337,179
Ensembl chr  X:21,254,914...21,336,584
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Atkin Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        central nervous system disease 10373
          brain disease 9736
            disease of mental health 7038
              developmental disorder of mental health 4374
                specific developmental disorder 3633
                  intellectual disability 3444
                    syndromic intellectual disability 761
                      Mental Retardation, X-Linked 719
                        Atkin Syndrome 1
paths to the root