JSON

skeletal dysplasia

^ http://purl.obolibrary.org/obo/MONDO_0018230


Any Mendelian diseases that affects growth and development of the skeleton. [ https://orcid.org/0000-0001-5208-3432 PMID:31633310 https://www.skeldys.org/ ]

Term info

database cross reference
  • Orphanet:364526 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4995

definition

Any Mendelian diseases that affects growth and development of the skeleton.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_364526

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005497, http://purl.obolibrary.org/obo/MONDO_0018457, http://purl.obolibrary.org/obo/MONDO_0015958

has exact synonym

Mendelian skeletal dysplasia, primary skeletal dysplasia, primary bone dysplasia, primary osteodysplasia

id

MONDO:0018230

Term relations