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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:pseudoachondroplasia
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Accession:DOID:0080047 term browser browse the term
Definition:An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. (DO)
Synonyms:exact_synonym: PSACH;   pseudoachondroplastic dysplasia;   pseudoachondroplastic spondyloepiphyseal dysplasia;   pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
 primary_id: MESH:C535819
 alt_id: OMIM:177170
 xref: GARD:4540;   NCI:C118635
For additional species annotation, visit the Alliance of Genome Resources.


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pseudoachondroplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Comp cartilage oligomeric matrix protein ISO ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7670471 PMID:7670472 PMID:9463320 PMID:9632164 PMID:9880218 More... NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845 		JBrowse link
G Tor1a torsin family 1, member A ISO ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome ClinVar PMID:25741868 NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    Developmental Disease 18229
      bone development disease 2282
        osteochondrodysplasia 876
          pseudoachondroplasia 2
Path 2
Term Annotations click to browse term
  disease 20983
    disease of anatomical entity 18174
      Skin and Connective Tissue Diseases 7433
        connective tissue disease 5734
          bone disease 4262
            bone development disease 2282
              Dwarfism 866
                achondroplasia 57
                  pseudoachondroplasia 2
paths to the root