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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:Burn-McKeown syndrome
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Accession:DOID:0080695 term browser browse the term
Definition:A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism,\nhearing loss, heart abnormalities, and short stature. (DO)
Synonyms:exact_synonym: BMKS;   TXNL4A-RELATED CONDITION;   bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance;   choanal atresia - deafness - cardiac defects - dysmorphism syndrome
 primary_id: MESH:C537411
 alt_id: MIM:608572
 xref: GARD:10041;   ORDO:1200


show annotations for term's descendants           Sort by:
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 chr18:73,571,870...73,597,088
Ensembl chr18:73,571,936...73,628,484 		JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:74,176,863...74,368,993
Ensembl chr18:74,176,863...74,368,953 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,854,277...73,916,232
Ensembl chr18:73,854,282...73,916,457 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,772,021...75,787,577
Ensembl chr18:75,772,023...75,787,577 		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 chr18:73,682,286...73,690,061
Ensembl chr18:73,682,286...73,688,045 		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 chr18:73,742,224...73,810,420
Ensembl chr18:73,743,074...73,808,723 		JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404 		JBrowse link
G Nfatc1 nuclear factor of activated T-cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:74,046,422...74,156,041
Ensembl chr18:74,046,904...74,156,028 		JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,497,992...73,565,048
Ensembl chr18:73,498,021...73,565,029 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,639,264...73,648,914
Ensembl chr18:73,639,260...73,648,915 		JBrowse link
G Sall3 spalt-like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:74,406,066...74,425,974
Ensembl chr18:74,407,560...74,426,789 		JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:73,702,472...73,739,678
Ensembl chr18:73,702,564...73,739,676 		JBrowse link
G Txnl4a thioredoxin-like 4A ISO DNA:deletions:promoter:
DNA:missense mutations,deletions:promoter, cds:
CTD Direct Evidence: marker/mechanism
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		 OMIM
CTD
ClinVar
RGD		 PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... RGD:155882456, RGD:11531484 NCBI chr18:73,659,107...73,674,893
Ensembl chr18:73,659,107...73,674,893 		JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:75,976,478...76,072,428
Ensembl chr18:75,978,231...76,073,737 		JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,286,453...76,386,526
Ensembl chr18:76,302,096...76,385,269 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19104
    syndrome 11279
      Burn-McKeown syndrome 15
Path 2
Term Annotations click to browse term
  disease 19104
    disease of anatomical entity 18445
      nervous system disease 14347
        Neurologic Manifestations 10431
          sensory system disease 7340
            Otorhinolaryngologic Diseases 1795
              auditory system disease 1055
                Hearing Disorders 842
                  Hearing Loss 837
                    Deafness 381
                      Burn-McKeown syndrome 15
paths to the root