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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;   TFAP2A-RELATED CONDITION;   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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP ClinVar Annotator: match by term: Branchiooculofacial syndrome
ClinVar Annotator: match by term: Branchio-Oculo-Facial Syndrome		 ClinVar PMID:10464653 PMID:15146463 PMID:18220287 PMID:19951260 PMID:21280147 More... NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		JBrowse link
G LOC121740638 BRD4-independent group 4 enhancer GRCh37_chr6:10403277-10404476 IAGP ClinVar Annotator: match by term: Branchiooculofacial syndrome
ClinVar Annotator: match by term: TFAP2A-related condition
ClinVar Annotator: match by term: Branchiooculofacial syndrome | ClinVar Annotator: match by term: TFAP2A-related condition		 ClinVar PMID:7747785 PMID:10767004 PMID:18423521 PMID:19685247 PMID:19764023 More... NCBI chr 6:10,403,044...10,404,863 JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP ClinVar Annotator: match by term: Branchiooculofacial syndrome
ClinVar Annotator: match by term: Branchio-Oculo-Facial Syndrome | ClinVar Annotator: match by term: Branchiooculofacial syndrome | ClinVar Annotator: match by term: TFAP2A-related condition		 ClinVar
OMIM		 PMID:7747785 PMID:10767004 PMID:18423521 PMID:19685247 PMID:19764023 More... NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
G TFAP2A-AS1 TFAP2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Branchiooculofacial syndrome | ClinVar Annotator: match by term: TFAP2A-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:10,412,318...10,416,169
Ensembl chr 6:10,409,340...10,416,446 		JBrowse link
G TFAP2A-AS2 TFAP2A antisense RNA 2 IAGP ClinVar Annotator: match by term: Branchiooculofacial syndrome
ClinVar Annotator: match by term: Branchiooculofacial syndrome | ClinVar Annotator: match by term: TFAP2A-related condition		 ClinVar PMID:7747785 PMID:10767004 PMID:18423521 PMID:19685247 PMID:19764023 More... NCBI chr 6:10,404,502...10,407,927
Ensembl chr 6:10,404,502...10,407,928 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    syndrome 18075
      branchiooculofacial syndrome 5
Path 2
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 33606
        genetic disease 33187
          monogenic disease 18511
            autosomal genetic disease 16781
              autosomal dominant disease 10884
                branchiooculofacial syndrome 5
paths to the root