| Metadata | |
|---|---|
| ID | DOID:0080047 |
| Name | pseudoachondroplasia |
| Definition | An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. http://en.wikipedia.org/wiki/Pseudoachondroplasia, http://ghr.nlm.nih.gov/condition/pseudoachondroplasia, http://www.healthline.com/galecontent/pseudoachondroplasia, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=750.0, http://www.wheelessonline.com/ortho/pseudoachondroplasia |
| Xrefs | |
| Alternateids |
DOID:14800 |
| Subsets |
DO_rare_slim |
| Synonyms |
pseudoachondroplastic dysplasia [EXACT] SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC [EXACT] |
| Parent Relationships |