JSON

non-rhizomelic chondrodysplasia punctata

^ http://purl.obolibrary.org/obo/MONDO_0015775


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. [ Orphanet:176 ]

Term info

database cross reference
  • Orphanet:176 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

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.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_176

id

MONDO:0015775

Term relations