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
Accession: DOID:9003295
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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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
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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
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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
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Mkxem1Asah
mohawk homeobox; CRISPR/Cas9 system induced mutant 1, Asah
IMP
compared to Wistar
RGD
PMID:27370800
RGD:40924660
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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
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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
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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
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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
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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
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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
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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 PMID:21037275 PMID:21412251 PMID:21654728 PMID:22539336 PMID:25486376 PMID:25741868 PMID:28492532 PMID:28742282 PMID:31510824 PMID:31988067 PMID:32907608 PMID:34270679 PMID:34958143 PMID:36331722 More...
NCBI chr10:104,135,676...104,148,854
Ensembl chr10:104,135,682...104,148,698
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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
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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
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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
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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
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Xylt1
xylosyltransferase 1
ISO
ClinVar Annotator: match by term: Desbuquois dysplasia 1
ClinVar
PMID:9536098 PMID:16376579 PMID:16571645 PMID:17576681 PMID:24581741 PMID:25741868 PMID:26601923 PMID:28085539 PMID:28229453 PMID:28462984 PMID:28492532 PMID:30554721 PMID:31785789 More...
NCBI chr 1:181,078,222...181,361,047
Ensembl chr 1:181,078,222...181,361,047
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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 PMID:26601923 PMID:28462984 PMID:28492532 PMID:30554721 More...
NCBI chr 1:181,078,222...181,361,047
Ensembl chr 1:181,078,222...181,361,047
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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
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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
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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
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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
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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
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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
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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 PMID:2549426 PMID:3720010 PMID:8557265 PMID:8702665 PMID:9876352 PMID:10571700 PMID:10980525 PMID:11092390 PMID:11093740 PMID:11588148 PMID:11600516 PMID:11784876 PMID:12024004 PMID:12621129 PMID:12727968 PMID:12970318 PMID:15126527 PMID:15711092 PMID:15952988 PMID:16507630 PMID:17164301 PMID:18553568 PMID:18796523 PMID:20427508 PMID:21525160 PMID:21835143 PMID:23281139 PMID:23403822 PMID:23533243 PMID:23536913 PMID:23796510 PMID:23843956 PMID:23884777 PMID:24033266 PMID:24088041 PMID:24481334 PMID:24626099 PMID:24728327 PMID:24855271 PMID:25044890 PMID:25157968 PMID:25219572 PMID:25719192 PMID:25741868 PMID:25802881 PMID:25851935 PMID:26341786 PMID:26574629 PMID:26633545 PMID:27398169 PMID:27506760 PMID:27703483 PMID:28492532 PMID:29059381 PMID:29072892 PMID:29379892 PMID:29991465 PMID:30349702 PMID:30674755 PMID:30702195 PMID:30729047 PMID:31793173 PMID:31886927 PMID:33144682 PMID:34254228 PMID:34418133 PMID:34614324 PMID:35296306 PMID:35357904 PMID:35497370 More...
NCBI chr 3:183,489,648...183,554,570
Ensembl chr 3:183,503,243...183,554,536
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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
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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
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