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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:Skraban-Deardorff Syndrome
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Accession:DOID:9006821 term browser browse the term
Definition:A syndromic neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip. (OMIM)
Synonyms:exact_synonym: INTELLECTUAL DISABILITY WITH SEIZURES, ABNORMAL GAIT, AND DISTINCTIVE FACIAL FEATURES;   SKDEAS
 primary_id: OMIM:617616
 alt_id: RDO:9005197
For additional species annotation, visit the Alliance of Genome Resources.


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Skraban-Deardorff Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr26 WD repeat domain 26 ISO ClinVar Annotator: match by term: SKRABAN-DEARDORFF SYNDROME ClinVar
OMIM
PMID:25741868, PMID:25741869, PMID:28686853 NCBI chr13:99,493,117...99,532,775
Ensembl chr13:99,493,120...99,531,959
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Skraban-Deardorff Syndrome 1
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
              Neurodevelopmental Disorders 4554
                Skraban-Deardorff Syndrome 1
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.