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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 Hsd17b10 hydroxysteroid (17-beta) dehydrogenase 10 ISO ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome ClinVar PMID:28492532 NCBI chr  X:21,089,152...21,091,597
Ensembl chr  X:21,089,122...21,109,488
JBrowse link
G Iqsec2 IQ motif and Sec7 domain ArfGEF 2 ISO ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome | ClinVar Annotator: match by term: Mental retardation, X-linked, nonspecific 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
JBrowse link
G Ribc1 RIB43A domain with coiled-coils 1 ISO ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome ClinVar PMID:28492532 NCBI chr  X:21,091,717...21,103,688
Ensembl chr  X:21,091,717...21,103,200
JBrowse link
G Smc1a structural maintenance of chromosomes 1A ISO ClinVar Annotator: match by term: Atkin Flaitz Patil Smith syndrome ClinVar PMID:19052029 PMID:23683030 PMID:28492532 NCBI chr  X:21,103,323...21,148,053
Ensembl chr  X:21,103,282...21,148,056
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Atkin Syndrome 4
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            disease of mental health 7449
              developmental disorder of mental health 4824
                specific developmental disorder 4065
                  intellectual disability 3878
                    X-Linked Intellectual Developmental Disorders 750
                      Atkin Syndrome 4
paths to the root