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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:IVIC syndrome
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Accession:DOID:0111381 term browser browse the term
Definition:A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in SALL4 on chromosome 20q13.2. (DO)
Synonyms:exact_synonym: Instituto Venezolano de Investigaciones Cientificas syndrome;   OORS;   oculo-oto-radial syndrome;   oculootoradial syndrome;   radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
 broad_synonym: SALL4-related spectrum disorder;   SALL4-related spectrum disorders
 primary_id: MESH:C535544
 alt_id: OMIM:147750
 xref: GARD:269;   ORDO:2307
For additional species annotation, visit the Alliance of Genome Resources.


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IVIC syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall4 spalt-like transcription factor 4 ISO ClinVar Annotator: match by OMIM:147750
ClinVar Annotator: match by term: IVIC syndrome
OMIM
ClinVar
PMID:17256792 PMID:25741868 NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    syndrome 7057
      IVIC syndrome 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        sensory system disease 5248
          Otorhinolaryngologic Diseases 1156
            auditory system disease 741
              Hearing Disorders 601
                Hearing Loss 597
                  Bilateral Hearing Loss 5
                    IVIC syndrome 1
paths to the root