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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:956253, PMID:1520078, PMID:4056805, PMID:8179305, PMID:11891693, PMID:14755468, PMID:18587396, PMID:19232556, PMID:19661060, PMID:19666518, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20425821, PMID:20460441, PMID:20503319, PMID:20577006, PMID:21115951, PMID:21288981, PMID:21336783, PMID:21454511, PMID:21573172, PMID:21964574, PMID:22419508, PMID:22689196, PMID:22702953, PMID:22791502, PMID:22851605, PMID:24575025, PMID:24577120, PMID:24677493, PMID:24789864, PMID:25256292, PMID:25703509, PMID:25741868, PMID:25900305, PMID:26110311, PMID:26249260, PMID:26392352, PMID:26467025, PMID:27330106, 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:956253, PMID:1520078, PMID:4056805, PMID:8179305, PMID:11891693, PMID:12884428, PMID:14755468, PMID:18587396, PMID:19232556, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20425821, PMID:20460441, PMID:20503319, PMID:20577006, PMID:21115951, PMID:21288981, PMID:21336783, PMID:21454511, PMID:21573172, PMID:21658220, PMID:21964574, PMID:22702953, PMID:22791502, PMID:22851605, PMID:24575025, PMID:24677493, PMID:24789864, PMID:25256292, PMID:25741868, PMID:25900305, PMID:26110311, PMID:26170305, PMID:26249260, PMID:26467025, PMID:27330106, PMID:28492532, PMID:28898540, PMID:30311386 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 autosomal dominant
ClinVar Annotator: match by term: Brachyolmia Type 3
ClinVar Annotator: match by OMIM:113500
OMIM
ClinVar
PMID:956253, PMID:1520078, PMID:4056805, PMID:8179305, PMID:11891693, PMID:14755468, PMID:18587396, PMID:19232556, PMID:19661060, PMID:19666518, PMID:20037586, PMID:20037587, PMID:20037588, PMID:20104247, PMID:20425821, PMID:20460441, PMID:20503319, PMID:20577006, PMID:21115951, PMID:21288981, PMID:21336783, PMID:21454511, PMID:21573172, PMID:21964574, PMID:22419508, PMID:22689196, PMID:22702953, PMID:22791502, PMID:22851605, PMID:24575025, PMID:24577120, PMID:24677493, PMID:24789864, PMID:25256292, PMID:25703509, PMID:25741868, PMID:25900305, PMID:26110311, PMID:26249260, PMID:26392352, PMID:26467025, PMID:27330106, 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: 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 16103
    Developmental Diseases 9506
      bone development disease 1329
        osteochondrodysplasia 435
          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 16103
    disease of anatomical entity 15351
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1329
              osteochondrodysplasia 435
                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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.