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:Opsismodysplasia
go back to main search page
Accession:DOID:9002202 term browser browse the term
Definition:Opsismodysplasia is a rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death in utero or secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges.
Synonyms:exact_synonym: OPSMD
 primary_id: MESH:C537122;   OMIM:258480
 alt_id: RDO:0002894
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Opsismodysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Opsismodysplasia ClinVar PMID:23861362 PMID:24033266 PMID:24503780 PMID:25741868 PMID:28492532 PMID:29247119 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Inppl1 inositol polyphosphate phosphatase-like 1 ISO ClinVar Annotator: match by OMIM:258480
ClinVar Annotator: match by term: Opsismodysplasia
OMIM
ClinVar
PMID:17952091 PMID:23273567 PMID:23273569 PMID:25997753 PMID:27708270 PMID:29276006 NCBI chr 1:166,898,177...166,912,524
Ensembl chr 1:166,899,894...166,912,524
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      bone development disease 1344
        osteochondrodysplasia 449
          Opsismodysplasia 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Skin and Connective Tissue Diseases 5492
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              osteochondrodysplasia 449
                Opsismodysplasia 2
paths to the root