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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



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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 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with short stature and variable skeletal anomalies OMIM
ClinVar
PMID:25741868 PMID:30968111 NCBI chr12:11,911,369...11,939,799
Ensembl chr12:11,911,337...11,939,794
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    Developmental Disease 18459
      Neurodevelopmental Disorders 6815
        INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES 1
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      nervous system disease 14019
        central nervous system disease 12373
          brain disease 11610
            disease of mental health 8277
              Neurodevelopmental Disorders 6815
                INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES 1
paths to the root