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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 behavioral abnormalities
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Accession:DOID:0111674 term browser browse the term
Definition:A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in IQSEC1 on chromosome 3p25.2-p25.1. (DO)
Synonyms:exact_synonym: IDDSSBA
 alt_id: OMIM:618687
For additional species annotation, visit the Alliance of Genome Resources.



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intellectual developmental disorder with short stature and behavioral abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqsec1 IQ motif and Sec7 domain ArfGEF 1 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES
ClinVar Annotator: match by term: Intellectual developmental disorder with short stature and behavioral abnormalities
ClinVar
OMIM
PMID:25741868 PMID:31607425 NCBI chr 4:123,168,719...123,488,300
Ensembl chr 4:123,168,719...123,488,172
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      intellectual developmental disorder with short stature and behavioral abnormalities 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            disease of mental health 7070
              developmental disorder of mental health 4405
                specific developmental disorder 3664
                  intellectual disability 3475
                    intellectual developmental disorder with short stature and behavioral abnormalities 1
paths to the root