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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:Faundes-Banka Syndrome
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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: OMIM:619376
For additional species annotation, visit the Alliance of Genome Resources.



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Faundes-Banka Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eif5a eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: FAUNDES-BANKA SYNDROME OMIM
ClinVar
PMID:33547280 NCBI chr10:54,640,104...54,644,845
Ensembl chr10:54,640,024...54,644,656
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Faundes-Banka Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                complex cortical dysplasia with other brain malformations 1421
                  Malformations of Cortical Development, Group I 1267
                    microcephaly 1103
                      Faundes-Banka Syndrome 1
paths to the root