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ONTOLOGY REPORT - ANNOTATIONS


Term:Vici syndrome
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Accession:DOID:0060356 term browser browse the term
Definition:An autosomal recessive disease 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;   IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM;   VICIS
 primary_id: MESH:C535566;   RDO:0000762
 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 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
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Pathological Conditions, Signs and Symptoms 8030
      Anatomical Pathological Conditions 1329
        Agenesis of Corpus Callosum 69
          Vici syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              lens disease 194
                cataract 187
                  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.