Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Behavioral & Substance Use Disorder Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:Faundes-Banka Syndrome
go back to main search page
Accession:DOID:9003915 term browser browse the term
Definition:An autosomal dominant disorder characterized by variable combinations of developmental delay and microcephaly, as well as micrognathia and other dysmorphic features. Caused by heterozygous mutation in the EIF5A gene on chromosome 17p13. (OMIM)
Synonyms:exact_synonym: FABAS
 primary_id: MIM:619376


show annotations for term's descendants           Sort by:
Faundes-Banka Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acadvl acyl-CoA dehydrogenase, very long chain ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,231,558...55,236,786
Ensembl chr10:55,231,440...55,236,750 		JBrowse link
G Asgr1 asialoglycoprotein receptor 1 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,274,299...55,278,323
Ensembl chr10:55,274,706...55,278,322 		JBrowse link
G Asgr2 asialoglycoprotein receptor 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,320,082...55,333,294
Ensembl chr10:55,320,091...55,333,263 		JBrowse link
G Cldn7 claudin 7 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,188,670...55,190,871
Ensembl chr10:55,188,684...55,190,905 		JBrowse link
G Ctdnep1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,203,047...55,212,469
Ensembl chr10:55,203,543...55,212,852 		JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,239,397...55,267,780
Ensembl chr10:55,236,869...55,265,839 		JBrowse link
G Dvl2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,222,245...55,231,506
Ensembl chr10:55,222,056...55,231,506 		JBrowse link
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Faundes-Banka syndrome OMIM
ClinVar		 PMID:25741868 PMID:31690835 PMID:33547280 NCBI chr10:55,138,821...55,143,272
Ensembl chr10:55,138,823...55,143,330 		JBrowse link
G Elp5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,191,223...55,202,949
Ensembl chr10:55,191,227...55,203,617 		JBrowse link
G Gabarap GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,213,465...55,216,787
Ensembl chr10:55,212,075...55,216,154 		JBrowse link
G Gps2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,136,043...55,139,106
Ensembl chr10:55,136,169...55,139,862 		JBrowse link
G Neurl4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,123,471...55,135,971
Ensembl chr10:55,124,324...55,136,223 		JBrowse link
G Phf23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,217,351...55,221,471
Ensembl chr10:55,217,351...55,221,471 		JBrowse link
G Slc2a4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,164,721...55,170,289
Ensembl chr10:55,164,721...55,170,270 		JBrowse link
G Ybx2 Y box binding protein 2 ISO ClinVar Annotator: match by term: Faundes-Banka syndrome ClinVar PMID:31690835 NCBI chr10:55,158,420...55,164,077
Ensembl chr10:55,158,420...55,164,077 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      Faundes-Banka Syndrome 15
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            disease of mental health 8496
              Neurodevelopmental Disorders 6988
                Developmental Disabilities 743
                  Faundes-Banka Syndrome 15
paths to the root