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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


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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:25741868 PMID:33547280 NCBI chr11:69,807,538...69,812,784
Ensembl chr11:69,807,540...69,812,784 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18297
    syndrome 10342
      Faundes-Banka Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18297
    Developmental Disease 17907
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17777
        genetic disease 17751
          monogenic disease 10362
            autosomal genetic disease 9535
              autosomal dominant disease 6267
                complex cortical dysplasia with other brain malformations 1600
                  Malformations of Cortical Development, Group I 1382
                    microcephaly 1131
                      Faundes-Banka Syndrome 1
paths to the root