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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
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Vici syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Epg5 ectopic P-granules autophagy protein 5 homolog JBrowse link 18 74,299,965 74,397,115 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      Vici syndrome 1
Path 2
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  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        genetic disease 7612
          monogenic disease 5382
            autosomal genetic disease 4347
              autosomal recessive disease 2338
                Vici syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.