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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:Vici syndrome
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Accession:DOID:0060356 term browser browse the term
Definition:A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3. (DO)
Synonyms:exact_synonym: Absent Corpus Callosum Cataract Immunodeficiency;   VICIS;   immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
 primary_id: MESH:C535566
 alt_id: OMIM:242840
 xref: GARD:448;   NCI:C138174;   ORDO:1493
For additional species annotation, visit the Alliance of Genome Resources.



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Vici syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epg5 ectopic P-granules autophagy protein 5 homolog ISO ClinVar Annotator: match by OMIM:242840
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Absent corpus callosum cataract immunodeficiency
ClinVar Annotator: match by term: Vici syndrome
OMIM
ClinVar
CTD
PMID:3344762 PMID:9536098 PMID:17576681 PMID:23222957 PMID:23674064 More... NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17208
    syndrome 8125
      Vici syndrome 1
Path 2
Term Annotations click to browse term
  disease 17208
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9458
        genetic disease 8961
          monogenic disease 7129
            autosomal genetic disease 6276
              autosomal recessive disease 3443
                Vici syndrome 1
paths to the root