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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;   EPG5-RELATED CONDITION;   VICIS;   immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
 primary_id: MESH:C535566
 alt_id: OMIM:242840
 xref: GARD:448;   MONDO:0009452;   NCI:C138174;   ORDO:1493


show annotations for term's descendants           Sort by:
Vici syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ark2c arkadia C-terminal like ring finger ubiquitin ligase 2C ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:70,984,566...71,100,836
Ensembl chr18:70,989,731...71,100,836 		JBrowse link
G Ark2n arkadia (RNF111) N-terminal like PKA signaling regulator 2N ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:71,155,956...71,243,655
Ensembl chr18:71,157,700...71,243,482 		JBrowse link
G Atp5f1a ATP synthase F1 subunit alpha ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794 		JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EPG5-related condition | ClinVar Annotator: match by term: Vici syndrome		 OMIM
CTD
ClinVar		 PMID:3344762 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 More... NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502 		JBrowse link
G Haus1 HAUS augmin-like complex, subunit 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:71,275,417...71,286,626
Ensembl chr18:71,273,537...71,286,660 		JBrowse link
G Hdhd2 haloacid dehalogenase-like hydrolase domain containing 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:70,488,315...70,526,471
Ensembl chr18:70,474,926...70,526,470 		JBrowse link
G Ier3ip1-ps1 immediate early response 3 interacting protein 1, pseudogene 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr 4:132,342,131...132,342,625
Ensembl chr 4:132,332,180...132,342,316 		JBrowse link
G Katnal2 katanin catalytic subunit A1 like 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:70,531,759...70,607,886
Ensembl chr18:70,531,754...70,608,082 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:70,817,962...70,970,606
Ensembl chr18:70,818,276...70,969,983 		JBrowse link
G Pias2 protein inhibitor of activated STAT, 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:70,608,034...70,714,295
Ensembl chr18:70,607,665...70,710,033 		JBrowse link
G Pstpip2 proline-serine-threonine phosphatase-interacting protein 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:71,310,387...71,396,752
Ensembl chr18:71,311,020...71,395,709 		JBrowse link
G Setbp1 SET binding protein 1 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556 		JBrowse link
G Siglec15 sialic acid binding Ig-like lectin 15 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:71,506,416...71,521,894
Ensembl chr18:71,505,399...71,521,881 		JBrowse link
G Skor2 SKI family transcriptional corepressor 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:70,404,431...70,446,330
Ensembl chr18:70,404,489...70,440,342 		JBrowse link
G Slc14a1 solute carrier family 14 member 1 (Kidd blood group) ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:71,565,453...71,608,807
Ensembl chr18:71,565,454...71,595,146 		JBrowse link
G Slc14a2 solute carrier family 14 member 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:71,612,460...72,039,462
Ensembl chr18:71,612,460...71,792,968 		JBrowse link
G Smad2 SMAD family member 2 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323 		JBrowse link
G St8sia5 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 ISO ClinVar Annotator: match by term: Vici syndrome ClinVar PMID:28492532 NCBI chr18:70,736,395...70,802,537
Ensembl chr18:70,736,602...70,797,789 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Vici syndrome 18
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              lens disease 456
                cataract 446
                  Vici syndrome 18
paths to the root