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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:White-Sutton syndrome
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Accession:DOID:0070067 term browser browse the term
Definition:A neurodevelopmental disorder characterized by delayed psychomotor development apparent in infancy and a characteristic constellation of dysmorphic facial features. (OMIM)
Synonyms:exact_synonym: MRD37;   WHSUS;   autosomal dominant mental retardation 37
 primary_id: OMIM:616364
For additional species annotation, visit the Alliance of Genome Resources.


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White-Sutton syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: White-sutton syndrome ClinVar PMID:25741868 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444
JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: White-sutton syndrome ClinVar PMID:25741868 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: White-sutton syndrome OMIM
ClinVar
PMID:9862965, PMID:22495311, PMID:22542183, PMID:23375656, PMID:24267886, PMID:24463507, PMID:24896178, PMID:25533962, PMID:25694107, PMID:25741868, PMID:26739615, PMID:26763879, PMID:26942287, PMID:27148570, PMID:28480548, PMID:28492532, PMID:28708303 NCBI chr 2:195,995,322...196,041,500
Ensembl chr 2:195,996,521...196,041,497
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      White-Sutton syndrome 3
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            disease of mental health 5991
              developmental disorder of mental health 3111
                specific developmental disorder 2287
                  intellectual disability 2107
                    non-syndromic intellectual disability 249
                      autosomal dominant non-syndromic intellectual disability 169
                        White-Sutton syndrome 3
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.