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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:INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES
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Accession:DOID:9007433 term browser browse the term
Synonyms:exact_synonym: IDDSSA
 primary_id: OMIM:618453
For additional species annotation, visit the Alliance of Genome Resources.


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INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WIPI2 WD repeat domain, phosphoinositide interacting 2 IAGP ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES
ClinVar Annotator: match by term: Intellectual developmental disorder with short stature and variable skeletal anomalies
ClinVar
OMIM
PMID:25741868 PMID:30968111 NCBI chr 7:5,190,233...5,233,855
Ensembl chr 7:5,190,196...5,233,840
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20175
    Developmental Disease 13746
      Neurodevelopmental Disorders 7556
        INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES 1
Path 2
Term Annotations click to browse term
  disease 20175
    disease of anatomical entity 18769
      nervous system disease 14810
        central nervous system disease 12986
          brain disease 12203
            disease of mental health 9333
              Neurodevelopmental Disorders 7556
                INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES 1
paths to the root