Rhizomelic chondrodysplasia punctata type 3

Definition

Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.

Also known as AGPS rhizomelic chondrodysplasia punctata, RCDP3, rhizomelic chondrodysplasia punctata caused by mutation in AGPS, rhizomelic chondrodysplasia punctata type 3 — per MONDO

Also identified as

• DOID 0110853 per MONDO
• MESH C537608 per MONDO
• OMIM 600121 per MONDO
• Orphanet 309803 per MONDO
• UMLS C1838612 per MONDO