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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 Spondyloepiphyseal Dysplasia Syndrome;   Pseudoachondroplastic dysplasia;   Pseudoachondroplastic spondyloepiphyseal dysplasia
 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 OMIM:177170
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:9887340 PMID:9921895 PMID:11746044 PMID:11746045 PMID:11782471 PMID:11968079 PMID:12483304 PMID:12768438 PMID:24595329 PMID:25741868 PMID:28492532 NCBI chr16:20,798,437...20,807,070
Ensembl chr16:20,798,437...20,807,070
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      bone development disease 1343
        osteochondrodysplasia 446
          pseudoachondroplasia 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      Skin and Connective Tissue Diseases 5478
        connective tissue disease 4105
          bone disease 3536
            bone development disease 1343
              Dwarfism 495
                achondroplasia 11
                  pseudoachondroplasia 1
paths to the root