Search Ontology:
Human Disease
pseudoachondroplasia
- Term ID
- DOID:0080047
- Synonyms
-
- pseudoachondroplastic dysplasia
- SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC
- Definition
- An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. (5)
- References
-
- GARD:4540
- MESH:C535819
- MIM:177170
- Ontology
- Human Disease ( DOID:0080047 )
- is a type of
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Genes Involved
Zebrafish Models