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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:branchiooculofacial syndrome
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Accession:DOID:0050691 term browser browse the term
Definition:A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts. (DO)
Synonyms:exact_synonym: BOF syndrome;   BOFS;   branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging;   branchio oculo facial syndrome;   hemangiomatous branchial clefts lip pseudocleft syndrome;   lip pseudocleft hemangiomatous branchial cyst syndrome
 primary_id: OMIM:113620
 xref: GARD:3212
For additional species annotation, visit the Alliance of Genome Resources.



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branchiooculofacial syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Branchio-Oculo-Facial Syndrome | ClinVar Annotator: match by term: Branchiooculofacial syndrome ClinVar PMID:10464653 PMID:15146463 PMID:18220287 PMID:19951260 PMID:21280147 More... NCBI chr 5:4,863,501...5,101,483
Ensembl chr 5:4,955,543...5,101,483
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Branchio-Oculo-Facial Syndrome | ClinVar Annotator: match by term: Branchiooculofacial syndrome OMIM
ClinVar
PMID:7747785 PMID:10767004 PMID:18423521 PMID:19685247 PMID:19764023 More... NCBI chr17:24,028,716...24,047,507
Ensembl chr17:24,024,432...24,047,507
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      branchiooculofacial syndrome 2
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
                branchiooculofacial syndrome 2
paths to the root