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ONTOLOGY REPORT - ANNOTATIONS


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
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branchiooculofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tfap2a transcription factor AP-2 alpha JBrowse link 17 24,653,342 24,670,457 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    syndrome 6094
      branchiooculofacial syndrome 1
Path 2
Term Annotations click to browse term
  disease 15984
    Developmental Diseases 9281
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8095
        genetic disease 7613
          monogenic disease 5382
            autosomal genetic disease 4348
              autosomal dominant disease 2713
                branchiooculofacial syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.