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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:Heterotopic Ossification
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Accession:DOID:9003295 term browser browse the term
Definition:The development of bony substance in normally soft structures.
Synonyms:exact_synonym: Ectopic Ossification;   Pathologic Ossification;   Pathological Ossification
 primary_id: MESH:D009999
 alt_id: RDO:0001319
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Heterotopic Ossification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbfb core-binding factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr19:37,127,508...37,171,075
Ensembl chr19:37,127,508...37,171,069
JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:18553568 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Runx2 RUNX family transcription factor 2 IMP RGD PMID:19940863 RGD:12880052 NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
G Smad4 SMAD family member 4 IMP RGD PMID:19940863 RGD:12880052 NCBI chr18:69,626,682...69,657,373
Ensembl chr18:69,627,757...69,671,199
JBrowse link
Desbuquois dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Desbuquois Dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
JBrowse link
G Xylt1 xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
JBrowse link
Desbuquois Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 OMIM
ClinVar
PMID:19853239, PMID:20358597, PMID:20358610, PMID:21037275, PMID:21412251, PMID:21654728, PMID:22539336, PMID:25486376, PMID:25741868, PMID:28492532, PMID:28742282 NCBI chr10:107,432,500...107,445,634
Ensembl chr10:107,432,506...107,445,522
JBrowse link
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:16571645, PMID:16759312, PMID:24581741, PMID:25741868, PMID:26601923, PMID:28462984, PMID:28492532 NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
JBrowse link
Desbuquois Dysplasia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 2 ClinVar
OMIM
PMID:22711505, PMID:23982343, PMID:24581741, PMID:28462984, PMID:28492532, PMID:30554721 NCBI chr 1:186,939,698...187,264,758
Ensembl chr 1:187,149,453...187,261,632
JBrowse link
Ossification of Posterior Longitudinal Ligament term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO OPLL,OMIM:602475;DNA:polymorphism RGD PMID:10453738 RGD:1601041 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
ossification of the posterior longitudinal ligament of spine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:polymorphism:exon:6007C>T(rs17563)(human) RGD PMID:21034624 RGD:9068398 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 severity ISO
ISS
DNA:deletion:intron:IVS20-11delT (human)
OMIM:602475
MouseDO PMID:15834329 RGD:13204732 NCBI chr 1:21,748,201...21,813,205
Ensembl chr 1:21,748,261...21,813,371
JBrowse link
progressive osseous heteroplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bglap bone gamma-carboxyglutamate protein ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr 2:187,741,770...187,748,445
Ensembl chr 2:187,741,770...187,742,747
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: Progressive osseous heteroplasia
ClinVar Annotator: match by OMIM:166350
OMIM
ClinVar
PMID:1505964, PMID:2122458, PMID:8557265, PMID:9876352, PMID:11784876, PMID:12024004, PMID:12605446, PMID:15711092, PMID:18553568, PMID:23796510, PMID:25219572, PMID:25741868, PMID:29072892, PMID:30311386 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr10:40,742,390...40,764,232
Ensembl chr10:40,742,400...40,764,185
JBrowse link
G Spp1 secreted phosphoprotein 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr14:6,673,686...6,679,965
Ensembl chr14:6,673,686...6,679,901
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Pathological Conditions, Signs and Symptoms 8723
      Pathologic Processes 6127
        Heterotopic Ossification 12
          Desbuquois dysplasia + 2
          Eagle Syndrome 0
          Leri Pleonosteosis 0
          Ossification of Posterior Longitudinal Ligament + 2
          Superior Transverse Scapular Ligament, Calcification Of, Familial 0
          progressive osseous heteroplasia 6
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.