Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:omodysplasia
go back to main search page
Accession:DOID:0060288 term browser browse the term
Definition:An osteochondrodysplasia that is characterized by severe congenital shortening and distal tapering of the humeri and femori as well as cryptorchidism, congential heart defects, cognitive delay and dysmorphic facies, has_material_basis_in autosomal recessive inheritance of mutation in the GPC6 gene. (DO)
Synonyms:primary_id: RDO:9004929
 xref: OMIM:PS258315;   ORDO:2733
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
omodysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd2 frizzled class receptor 2 ISS OMIM:164745 | OMIM:258315 MouseDO NCBI chr10:90,550,147...90,552,057
Ensembl chr10:90,550,147...90,552,057
JBrowse link
G Gpc6 glypican 6 ISO
ISS
ClinVar Annotator: match by term: Omodysplasia
OMIM:164745 | OMIM:258315
ClinVar
MouseDO
NCBI chr15:102,164,091...103,174,721
Ensembl chr15:102,164,751...103,170,847
JBrowse link
Omodysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc6 glypican 6 ISO ClinVar Annotator: match by OMIM:258315
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Omodysplasia 1
ClinVar Annotator: match by term: Autosomal recessive omodysplasia
OMIM
ClinVar
CTD
PMID:19481194, PMID:28492532 NCBI chr15:102,164,091...103,174,721
Ensembl chr15:102,164,751...103,170,847
JBrowse link
Omodysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd2 frizzled class receptor 2 ISO ClinVar Annotator: match by term: Omodysplasia 2 ClinVar
OMIM
PMID:25759469 NCBI chr10:90,550,147...90,552,057
Ensembl chr10:90,550,147...90,552,057
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      bone development disease 1330
        osteochondrodysplasia 435
          omodysplasia 2
            Omodysplasia 1 1
            Omodysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1330
              osteochondrodysplasia 435
                omodysplasia 2
                  Omodysplasia 1 1
                  Omodysplasia 2 1
paths to the root

NHLBI Logo

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