FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term pseudoachondroplasia ID (Ontology) DOID:0080047 (Human Disease)
Definition An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism.
Also Known As "pseudoachondroplastic dysplasia" ; "SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC"
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 Genes
 pseudoachondroplasia       1
 for disease ribbon | pseudoachondroplasia       1
 model of | pseudoachondroplasia       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
bone development disease        |
 |__osteochondrodysplasia_______|
cartilage disease               |
 |__osteochondrodysplasia_______|
                                pseudoachondroplasia  1 rec.
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Is a autosomal dominant disease
osteochondrodysplasia
Part of
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Synonyms
  • "pseudoachondroplastic dysplasia" EXACT
    "SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC" EXACT
Secondary IDs
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GARD:4540
MESH:C535819
MIM:177170