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RGD uses the Human Disease Ontology (DO, 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.

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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.

show annotations for term's descendants           Sort by:
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
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 16058
    Developmental Diseases 9508
      bone development disease 1335
        osteochondrodysplasia 445
          pseudoachondroplasia 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              Dwarfism 493
                achondroplasia 11
                  pseudoachondroplasia 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.