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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


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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 IAGP
EXP
ISS		 ClinVar Annotator: match by term: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
CTD Direct Evidence: marker/mechanism
OMIM:177170		 ClinVar
OMIM
CTD
MouseDO		 PMID:7670471 PMID:7670472 PMID:9463320 PMID:9632164 PMID:9756911 More... NCBI chr19:18,782,773...18,791,305
Ensembl chr19:18,782,773...18,791,305 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      bone development disease 3275
        osteochondrodysplasia 1231
          pseudoachondroplasia 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Skin and Connective Tissue Diseases 9687
        connective tissue disease 7446
          bone disease 5601
            bone development disease 3275
              Dwarfism 1123
                achondroplasia 59
                  pseudoachondroplasia 1
paths to the root