Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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
ClinVar Annotator: match by term: Intellectual developmental disorder with short stature and variable skeletal anomalies
ClinVar
OMIM
PMID:25741868 PMID:30968111 NCBI chr12:13,969,704...13,998,134
Ensembl chr12:13,969,586...13,998,172
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Neurodevelopmental Disorders 5663
        INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            disease of mental health 7018
              Neurodevelopmental Disorders 5663
                INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES 1
paths to the root