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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 ocular anomalies and distinctive facial features
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Accession:DOID:0081301 term browser browse the term
Definition:A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22. (DO)
Synonyms:exact_synonym: IDDOF;   MTSS2-RELATED DISORDER;   MTSS2-related neurodevelopmental disorder
 primary_id: OMIM:620086
 alt_id: DOID:9001279


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intellectual developmental disorder with ocular anomalies and distinctive facial features term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtss2 MTSS I-BAR domain containing 2 ISO ClinVar Annotator: match by term: Intellectual developmental disorder with ocular anomalies and distinctive facial features | ClinVar Annotator: match by term: MTSS2-related neurodevelopmental disorder OMIM
ClinVar		 PMID:25741868 PMID:36067766 NCBI chr19:38,692,793...38,714,575
Ensembl chr19:38,693,194...38,713,507 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      eye disease 3492
        Eye Abnormalities 781
          intellectual developmental disorder with ocular anomalies and distinctive facial features 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            disease of mental health 8321
              developmental disorder of mental health 5554
                specific developmental disorder 4518
                  intellectual disability 4300
                    syndromic intellectual disability 758
                      intellectual developmental disorder with ocular anomalies and distinctive facial features 1
paths to the root