General Information of Disease (ID: DISOR45N)

Disease Name Non-rhizomelic chondrodysplasia punctata
Definition
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.
Disease Hierarchy
DISERVGO: Chondrodysplasia punctata
DISOR45N: Non-rhizomelic chondrodysplasia punctata
Disease Identifiers
MONDO ID
MONDO_0015775
UMLS CUI
C5681009
MedGen ID
1842643
Orphanet ID
176