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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 More... NCBI chr16:19,047,206...19,055,584
Ensembl chr16:19,047,207...19,055,845
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      bone development disease 1414
        osteochondrodysplasia 478
          pseudoachondroplasia 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Skin and Connective Tissue Diseases 5811
        connective tissue disease 4420
          bone disease 3106
            bone development disease 1414
              Dwarfism 495
                achondroplasia 11
                  pseudoachondroplasia 1
paths to the root