Send us a Message

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


RGD uses the Human Disease Ontology (DO, 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
go back to main search page
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.

show annotations for term's descendants           Sort by:
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 term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders OMIM
PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 NCBI chr17:53,082,610...53,103,023
Ensembl chr17:52,936,173...53,103,190
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14378
    syndrome 8623
      IVIC syndrome 1
Path 2
Term Annotations click to browse term
  disease 14378
    disease of anatomical entity 14096
      nervous system disease 11963
        sensory system disease 6029
          Otorhinolaryngologic Diseases 1520
            auditory system disease 965
              Hearing Disorders 719
                Hearing Loss 715
                  Bilateral Hearing Loss 5
                    IVIC syndrome 1
paths to the root