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RGD uses the Human Disease Ontology (DO, 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.

show annotations for term's descendants           Sort by:
branchiooculofacial syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Branchiooculofacial syndrome ClinVar
PMID:7747785, PMID:10767004, PMID:18423521, PMID:19685247, PMID:19764023, PMID:20358615, PMID:21204207, PMID:23578821, PMID:25590586, PMID:25741868 NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      branchiooculofacial syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                branchiooculofacial syndrome 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.