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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 the IQSEC1 gene on chromosome 3p25.2-p25.1. (DO)
Synonyms:exact_synonym: IDDSSBA
 alt_id: OMIM:618687
 xref: EFO:0010652



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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 OMIM
ClinVar
PMID:25741868 PMID:28492532 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 18976
    syndrome 10887
      intellectual developmental disorder with short stature and behavioral abnormalities 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        central nervous system disease 12429
          brain disease 11666
            disease of mental health 8318
              developmental disorder of mental health 5551
                specific developmental disorder 4516
                  intellectual disability 4298
                    intellectual developmental disorder with short stature and behavioral abnormalities 1
paths to the root