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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.

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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 chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751 		JBrowse link
G Gnas GNAS complex locus ISO CTD Direct Evidence: marker/mechanism CTD PMID:18553568 NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Mkx mohawk homeobox IMP compared to Wistar RGD PMID:27370800 RGD:40924660 NCBI chr17:55,077,073...55,156,877
Ensembl chr17:55,077,540...55,156,124 		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 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
G Smad4 SMAD family member 4 IMP RGD PMID:19940863 RGD:12880052 NCBI chr18:67,243,742...67,274,438
Ensembl chr18:67,243,742...67,274,438 		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 chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783 		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 More... NCBI chr10:103,637,079...103,650,240
Ensembl chr10:103,531,504...103,650,109 		JBrowse link
G Xylt1 xylosyltransferase 1 ISO ClinVar Annotator: match by term: Desbuquois dysplasia 1 ClinVar PMID:9536098 PMID:16571645 PMID:17576681 PMID:24581741 PMID:25741868 More... NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783 		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:16571645 PMID:22711505 PMID:23982343 PMID:24581741 PMID:25741868 More... NCBI chr 1:171,643,925...171,929,774
Ensembl chr 1:171,643,925...171,926,783 		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 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		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 chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		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 1:20,698,746...20,763,741
Ensembl chr 1:20,698,764...20,763,715 		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 2:173,838,518...173,839,495
Ensembl chr 2:173,838,518...173,839,495 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Ctnnb1 catenin beta 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		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 More... NCBI chr 3:163,071,003...163,136,350
Ensembl chr 3:163,071,417...163,127,262
Ensembl chr 3:163,071,417...163,127,262 		JBrowse link
G Sparc secreted protein acidic and cysteine rich ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr10:39,516,394...39,538,252
Ensembl chr10:39,516,406...39,538,396 		JBrowse link
G Spp1 secreted phosphoprotein 1 ISO protein:increased expression:dermis: RGD PMID:18422975 RGD:9068449 NCBI chr14:5,308,885...5,315,120
Ensembl chr14:5,308,885...5,315,162 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Pathological Conditions, Signs and Symptoms 10235
      Pathologic Processes 6699
        Heterotopic Ossification 15
          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