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ONTOLOGY REPORT - ANNOTATIONS


Term:branchiooculofacial syndrome
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Accession:DOID:0050691 term browser browse the term
Definition:An autosomal dominant disease 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
 alt_id: RDO:9003031
 xref: GARD:3212
For additional species annotation, visit the Alliance of Genome Resources.


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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

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  disease 14759
    syndrome 4210
      branchiooculofacial syndrome 1
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal dominant disease 1092
                branchiooculofacial syndrome 1
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