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: brachyolmia
Accession: DOID:0050690
browse the term
Definition: An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. (DO)
Synonyms: exact_synonym: brachyrachia
primary_id: MESH:C537098
alt_id: DOID:9008880
xref: GARD:10903 ; ORDO:1293
For additional species annotation, visit the
Alliance of Genome Resources .
G
Ltbp3
latent transforming growth factor beta binding protein 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25669657
NCBI chr 1:221,099,155...221,116,096
Ensembl chr 1:221,099,998...221,116,096
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Papss2
3'-phosphoadenosine 5'-phosphosulfate synthase 2
ISO
ClinVar Annotator: match by term: Brachyolmia
ClinVar
PMID:24033266
NCBI chr 1:251,145,264...251,230,716
Ensembl chr 1:251,145,253...251,230,715
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO ISS
ClinVar Annotator: match by term: Brachyolmia ClinVar Annotator: match by term: Brachyrachia OMIM:113500 | OMIM:271530 | OMIM:271630 | OMIM:613678
ClinVar MouseDO
PMID:4056805 PMID:8179305 PMID:18587396 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:22419508 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24575025 PMID:24577120 PMID:24789864 PMID:25256292 PMID:25326637 PMID:25703509 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26392352 PMID:26467025 PMID:28492532 PMID:28898540
NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
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Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia Maroteaux type ClinVar Annotator: match by term: Brachyolmia Type 2
ClinVar
PMID:4056805 PMID:8179305 PMID:12884428 PMID:14755468 PMID:19232556 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20425821 PMID:20460441 PMID:20503319 PMID:20577006 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:21658220 PMID:22702953 PMID:24575025 PMID:24789864 PMID:25256292 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26170305 PMID:26249260 PMID:26467025 PMID:28492532
NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
G
Trpv4
transient receptor potential cation channel, subfamily V, member 4
ISO
ClinVar Annotator: match by term: Brachyolmia Type 3 ClinVar Annotator: match by term: Brachyolmia autosomal dominant
OMIM ClinVar
PMID:4056805 PMID:8179305 PMID:18587396 PMID:19661060 PMID:19666518 PMID:20037586 PMID:20037587 PMID:20037588 PMID:20104247 PMID:20460441 PMID:21288981 PMID:21336783 PMID:21454511 PMID:21573172 PMID:22419508 PMID:22689196 PMID:22702953 PMID:22851605 PMID:24575025 PMID:24577120 PMID:24789864 PMID:25256292 PMID:25326637 PMID:25703509 PMID:25741868 PMID:25900305 PMID:26110311 PMID:26392352 PMID:26467025 PMID:28492532 PMID:28898540
NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
G
Ltbp3
latent transforming growth factor beta binding protein 3
ISO
ClinVar Annotator: match by term: Dental anomalies and short stature ClinVar Annotator: match by term: Verloes Bourguignon syndrome ClinVar Annotator: match by OMIM:601216
OMIM ClinVar
PMID:19213025 PMID:19344874 PMID:25669657 PMID:25741868 PMID:25899461 PMID:28492532 PMID:29625025
NCBI chr 1:221,099,155...221,116,096
Ensembl chr 1:221,099,998...221,116,096
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