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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


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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 chr19:49,955,133...50,002,661
Ensembl chr19:49,959,096...50,002,657 		JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:18553568 NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536 		JBrowse link
G Mkx mohawk homeobox IMP compared to Wistar RGD PMID:27370800 RGD:40924660 NCBI chr17:59,772,113...59,851,160
Ensembl chr17:59,773,570...59,850,345 		JBrowse link
G Mkxem1Asah mohawk homeobox; CRISPR/Cas9 system induced mutant 1, Asah IMP compared to Wistar RGD PMID:27370800 RGD:40924660
G Runx2 RUNX family transcription factor 2 IMP RGD PMID:19940863 RGD:12880052 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027 		JBrowse link
G Smad4 SMAD family member 4 IMP RGD PMID:19940863 RGD:12880052 NCBI chr18:69,518,988...69,549,684
Ensembl chr18:69,518,988...69,549,684 		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
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Desbuquois syndrome | ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION
OMIM:251450 | OMIM:615777 		CTD
ClinVar
MouseDO		 PMID:19853239 PMID:25741868 PMID:28492532 PMID:36331722 NCBI chr10:104,135,676...104,148,854
Ensembl chr10:104,135,682...104,148,698 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION 		CTD
ClinVar		 PMID:16571645 PMID:24581741 PMID:25741868 PMID:28085539 PMID:28492532 NCBI chr 1:181,078,222...181,361,047
Ensembl chr 1:181,078,222...181,361,047 		JBrowse link
Desbuquois Dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr10:1,022,041...1,162,431
Ensembl chr10:1,038,947...1,162,404 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr 1:105,583,681...105,637,895
Ensembl chr 1:105,583,682...105,637,895 		JBrowse link
G Cant1 calcium activated nucleotidase 1 ISO ClinVar Annotator: match by term: CANT1-related condition | ClinVar Annotator: match by term: Desbuquois dysplasia 1 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:19853239 PMID:20358597 PMID:20358610 More... NCBI chr10:104,135,676...104,148,854
Ensembl chr10:104,135,682...104,148,698 		JBrowse link
G Cep20 centrosomal protein 20 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr10:1,221,294...1,243,144
Ensembl chr10:1,221,371...1,245,241 		JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr10:1,250,554...1,345,681
Ensembl chr10:1,263,194...1,345,678 		JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr10:1,347,010...1,391,167
Ensembl chr10:1,347,018...1,383,447 		JBrowse link
G Nomo1 Nodal modulator 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:24581741 PMID:26601923 PMID:28492532 PMID:30554721 NCBI chr 1:105,641,867...105,692,708
Ensembl chr 1:105,641,879...105,692,707 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:9536098 PMID:16376579 PMID:16571645 PMID:17576681 PMID:24581741 More... NCBI chr 1:181,078,222...181,361,047
Ensembl chr 1:181,078,222...181,361,047 		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: Baratela-Scott syndrome | ClinVar Annotator: match by term: Desbuquois dysplasia 2 OMIM
ClinVar		 PMID:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 More... NCBI chr 1:181,078,222...181,361,047
Ensembl chr 1:181,078,222...181,361,047 		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 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044 		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 chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 severity ISO
ISS 		DNA:deletion:intron:IVS20-11delT (human)
OMIM:602475 		MouseDO
RGD		 PMID:15834329 RGD:13204732 NCBI chr 1:22,518,051...22,583,044
Ensembl chr 1:22,518,069...22,583,044 		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 2:176,136,341...176,137,318
Ensembl chr 2:176,136,341...176,137,318 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr 8:129,517,576...129,544,661
Ensembl chr 8:129,517,545...129,544,662 		JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: ECTOPIC OSSIFICATION, FAMILIAL | ClinVar Annotator: match by term: Progressive osseous heteroplasia
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1505964 PMID:1517386 PMID:1594625 PMID:1944469 PMID:2122458 More... NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr10:40,017,065...40,038,816
Ensembl chr10:40,017,075...40,039,268 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr14:5,613,569...5,620,695
Ensembl chr14:5,613,576...5,619,820 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Pathologic Processes 8430
        Heterotopic Ossification 21
          Desbuquois dysplasia + 8
          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