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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:Bloom syndrome
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Accession:DOID:2717 term browser browse the term
Definition:An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
Synonyms:exact_synonym: BLM;   BLS;   BS;   Bloom Torre Machacek syndrome;   Bloom's syndrome;   MGRISCE1;   congenital telangiectatic erythema;   congenital telangiectatic erythema syndrome;   microcephaly, growth restriction, and increased sister chromatid exchange 1
 related_synonym: DNA ligase I deficiency
 primary_id: MESH:D001816
 alt_id: OMIM:210900
 xref: NCI:C2903;   ORDO:125
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Bloom syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blm BLM RecQ like helicase ISO ClinVar Annotator: match by term: Bloom syndrome
ClinVar Annotator: match by OMIM:210900
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:2678854, PMID:7585968, PMID:9285778, PMID:9388480, PMID:9837821, PMID:9840919, PMID:10069810, PMID:10090915, PMID:10569803, PMID:10734115, PMID:10812332, PMID:10965492, PMID:11399766, PMID:12242432, PMID:12444098, PMID:15579905, PMID:15609317, PMID:15990871, PMID:16876111, PMID:17407155, PMID:17878217, PMID:18414213, PMID:18471088, PMID:19917125, PMID:20301572, PMID:21113733, PMID:21440839, PMID:21815139, PMID:22582397, PMID:22657828, PMID:22829774, PMID:22885301, PMID:23028338, PMID:23129629, PMID:23225144, PMID:23276657, PMID:23292937, PMID:23552953, PMID:23928670, PMID:24033266, PMID:24096176, PMID:24118499, PMID:24448499, PMID:24728327, PMID:24733792, PMID:24816114, PMID:24932421, PMID:25111073, PMID:25129257, PMID:25182961, PMID:25231023, PMID:25399228, PMID:25525159, PMID:25619955, PMID:25637381, PMID:25653542, PMID:25741868, PMID:25850943, PMID:26028025, PMID:26247052, PMID:26296701, PMID:26340805, PMID:26358404, PMID:26503572, PMID:26556299, PMID:26585945, PMID:26786923, PMID:26788541, PMID:26822949, PMID:27124789, PMID:27153395, PMID:27175728, PMID:27356891, PMID:27657136, PMID:27876123, PMID:27959697, PMID:28195393, PMID:28492532, PMID:28611551, PMID:28724667, PMID:28873162, PMID:28877996, PMID:29098565, PMID:29338689, PMID:29439820, PMID:29478780, PMID:29753700, PMID:29785153, PMID:30214240, PMID:30262796, PMID:30306255, PMID:30502717, PMID:30840646, PMID:30871259, PMID:31159747, PMID:31253795, PMID:32566746, PMID:32860008, PMID:10779560, PMID:9388480 RGD:1580056, RGD:1599420 NCBI chr 1:142,246,773...142,332,616
Ensembl chr 1:142,246,790...142,332,588
JBrowse link
G Fes FES proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:142,174,648...142,183,884
Ensembl chr 1:142,174,648...142,183,884
JBrowse link
G Furin furin (paired basic amino acid cleaving enzyme) ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:142,185,092...142,198,167
Ensembl chr 1:142,185,094...142,197,182
JBrowse link
G Hddc3 HD domain containing 3 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:142,136,428...142,138,737
Ensembl chr 1:142,136,452...142,138,737
JBrowse link
G Lig1 DNA ligase 1 ISO ClinVar Annotator: match by term: Dna ligase i deficiency ClinVar PMID:1351188, PMID:1581963, PMID:19223467 NCBI chr 1:75,356,212...75,394,757
Ensembl chr 1:75,356,220...75,394,758
JBrowse link
G Man2a2 mannosidase, alpha, class 2A, member 2 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:142,141,695...142,164,561
Ensembl chr 1:142,143,799...142,164,263
JBrowse link
G Nsmce2 NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase ISS OMIM:210900 MouseDO NCBI chr 7:99,677,295...99,900,765
Ensembl chr 7:99,677,290...99,900,764
JBrowse link
G Prc1 protein regulator of cytokinesis 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:142,087,181...142,108,746
Ensembl chr 1:142,087,208...142,108,746
JBrowse link
G Rccd1 RCC1 domain containing 1 ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:142,109,066...142,118,452
Ensembl chr 1:142,109,252...142,114,634
JBrowse link
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Bloom syndrome ClinVar PMID:28492532 NCBI chr 1:142,118,910...142,135,219
Ensembl chr 1:142,118,917...142,133,627
JBrowse link
G Ung uracil-DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:2106500 NCBI chr12:48,246,593...48,255,547
Ensembl chr12:48,246,569...48,254,822
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Bloom syndrome 11
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                Bloom syndrome 11
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.