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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:Oculootofacial Dysplasia
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Accession:DOID:9001156 term browser browse the term
Synonyms:primary_id: MESH:C563682;   RDO:0012877


show annotations for term's descendants           Sort by:
Oculootofacial Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:75,846,860...75,871,638
Ensembl chr18:75,847,165...75,903,317 		JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:76,451,821...76,643,931
Ensembl chr18:76,451,821...76,643,893 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:76,129,243...76,193,404
Ensembl chr18:76,129,243...76,190,578 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:78,046,803...78,062,359
Ensembl chr18:78,046,805...78,062,359 		JBrowse link
G Hsbp1l1 heat shock factor binding protein 1-like 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:75,957,266...75,963,024
Ensembl chr18:75,957,266...75,963,024 		JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:76,017,225...76,085,377
Ensembl chr18:76,018,047...76,083,688 		JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:78,130,652...78,241,174
Ensembl chr18:78,130,325...78,241,174 		JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:76,321,386...76,430,997
Ensembl chr18:76,321,386...76,430,990 		JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:75,772,992...75,840,041
Ensembl chr18:75,772,955...75,840,041 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:75,914,247...75,923,893
Ensembl chr18:75,914,145...75,939,219 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:76,680,997...76,700,905
Ensembl chr18:76,681,005...76,700,905 		JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:75,976,000...76,014,651
Ensembl chr18:75,977,458...76,014,651 		JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA | ClinVar Annotator: match by term: Oculootofacial dysplasia ClinVar PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... NCBI chr18:75,934,085...75,949,873
Ensembl chr18:75,933,993...75,949,873 		JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:78,251,248...78,351,037
Ensembl chr18:78,251,248...78,347,236 		JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA ClinVar PMID:25434003 NCBI chr18:78,561,069...78,661,263
Ensembl chr18:78,573,562...78,674,419 		JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,846,860...75,871,638
Ensembl chr18:75,847,165...75,903,317 		JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,451,821...76,643,931
Ensembl chr18:76,451,821...76,643,893 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,129,243...76,193,404
Ensembl chr18:76,129,243...76,190,578 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:78,046,803...78,062,359
Ensembl chr18:78,046,805...78,062,359 		JBrowse link
G Hsbp1l1 heat shock factor binding protein 1-like 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,957,266...75,963,024
Ensembl chr18:75,957,266...75,963,024 		JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,017,225...76,085,377
Ensembl chr18:76,018,047...76,083,688 		JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:78,130,652...78,241,174
Ensembl chr18:78,130,325...78,241,174 		JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,321,386...76,430,997
Ensembl chr18:76,321,386...76,430,990 		JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,772,992...75,840,041
Ensembl chr18:75,772,955...75,840,041 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,914,247...75,923,893
Ensembl chr18:75,914,145...75,939,219 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,680,997...76,700,905
Ensembl chr18:76,681,005...76,700,905 		JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,976,000...76,014,651
Ensembl chr18:75,977,458...76,014,651 		JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition
CTD Direct Evidence: marker/mechanism
DNA:missense mutations,deletions:promoter, cds:
DNA:deletions:promoter: 		OMIM
ClinVar
CTD
RGD		 PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... RGD:11531484, RGD:155882456 NCBI chr18:75,934,085...75,949,873
Ensembl chr18:75,933,993...75,949,873 		JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:78,251,248...78,351,037
Ensembl chr18:78,251,248...78,347,236 		JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:78,561,069...78,661,263
Ensembl chr18:78,573,562...78,674,419 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19150
    physical disorder 5205
      imperforate anus 121
        Oculootofacial Dysplasia 15
          Burn-McKeown syndrome 15
Path 2
Term Annotations click to browse term
  disease 19150
    Developmental Disease 14695
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13757
        Congenital Abnormalities 7974
          Cardiovascular Abnormalities 1614
            congenital heart disease 1412
              heart septal defect 219
                atrial heart septal defect 123
                  Oculootofacial Dysplasia 15
                    Burn-McKeown syndrome 15
paths to the root