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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:brachyolmia
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Accession:DOID:0050690 term browser 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.


show annotations for term's descendants           Sort by:
 
brachyolmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
G 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
JBrowse link
G 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
JBrowse link
Brachyolmia Type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
JBrowse link
Brachyolmia Type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link
brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      bone development disease 1307
        osteochondrodysplasia 441
          brachyolmia 3
            Brachyolmia Type 1, Hobaek Type 0
            Brachyolmia Type 2 1
            Brachyolmia Type 3 1
            brachyolmia-amelogenesis imperfecta syndrome 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Skin and Connective Tissue Diseases 5431
        connective tissue disease 4137
          bone disease 3507
            bone development disease 1307
              osteochondrodysplasia 441
                brachyolmia 3
                  Brachyolmia Type 1, Hobaek Type 0
                  Brachyolmia Type 2 1
                  Brachyolmia Type 3 1
                  brachyolmia-amelogenesis imperfecta syndrome 1
paths to the root