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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:10405446, PMID:21965116, PMID:23222957, PMID:23479740, PMID:23674064, PMID:24033266, PMID:25331754, PMID:25741868, PMID:26395118, PMID:26854214, PMID:26917586, PMID:27343256, PMID:27577878, PMID:28168853, PMID:28492532, PMID:28615637, PMID:28624465, PMID:29130391, PMID:32313153 NCBI chr18:74,299,965...74,397,115
Ensembl chr18:74,299,931...74,395,547
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Vici syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                Vici syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.