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
Accession: DOID:0080695
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; bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance; choanal atresia - deafness - cardiac defects - dysmorphism syndrome
primary_id: MESH:C537411
alt_id: OMIM:608572
xref: GARD:10041 ; ORDO:1200
G
ADNP2
ADNP homeobox 2
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr 6:128,071,503...128,113,292
Ensembl chr 6:128,030,715...128,113,288
G
ATP9B
ATPase phospholipid transporting 9B (putative)
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr 1:146,022,975...146,228,847
Ensembl chr 1:146,022,978...146,221,769
G
CTDP1
CTD phosphatase subunit 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr 1:145,769,763...145,811,673
Ensembl chr 1:145,769,771...145,811,678
G
GALR1
galanin receptor 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr 1:147,442,977...147,466,731
Ensembl chr 1:147,443,821...147,463,542
G
HSBP1L1
heat shock factor binding protein 1 like 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr 6:127,960,330...127,972,241
Ensembl chr 6:127,960,266...127,973,191
G
KCNG2
potassium voltage-gated channel modifier subfamily G member 2
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr 6:127,830,032...127,891,294
Ensembl chr 6:127,866,238...127,891,916
G
MBP
myelin basic protein
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,590,865...147,685,290
G
NFATC1
nuclear factor of activated T cells 1
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr 1:145,940,099...146,002,897
Ensembl chr 1:145,911,046...146,008,139
G
PARD6G
par-6 family cell polarity regulator gamma
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr 6:128,161,610...128,250,708
Ensembl chr 6:128,162,600...128,250,663
G
RBFA
ribosome binding factor A
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr 6:128,030,397...128,048,061
Ensembl chr 6:128,030,723...128,053,494
G
SALL3
spalt like transcription factor 3
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr 1:146,251,591...146,273,778
Ensembl chr 1:146,252,155...146,273,906
G
SLC66A2
solute carrier family 66 member 2
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr 6:127,894,111...127,952,268
Ensembl chr 6:127,894,111...127,952,225
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
OMIM ClinVar
PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 PMID:28492532 PMID:32735620 PMID:34713892 More...
NCBI chr 6:127,975,164...127,991,112
Ensembl chr 6:127,974,543...127,991,177
G
ZNF236
zinc finger protein 236
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr 1:147,690,545...147,782,162
Ensembl chr 1:147,690,556...147,782,129
G
ZNF516
zinc finger protein 516
ISO
ClinVar Annotator: match by term: Burn-McKeown syndrome
ClinVar
PMID:25434003
NCBI chr 1:147,987,660...148,100,788
Ensembl chr 1:147,984,481...148,087,719
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all