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non-rhizomelic chondrodysplasia punctata

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


Mondo Description Nonrhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Nonrhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.
Mondo Term and Equivalent IDs
MONDO:0015775:  non-rhizomelic chondrodysplasia punctata
Orphanet:176: