skeletal dysplasia
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
- Orphanet:364526 (MONDO:equivalentTo)
disease_grouping, ordo_group_of_disorders
https://github.com/monarch-initiative/mondo/issues/4995
Any Mendelian diseases that affects growth and development of the skeleton.
http://purl.obolibrary.org/obo/Orphanet_364526
http://purl.obolibrary.org/obo/MONDO_0005497, http://purl.obolibrary.org/obo/MONDO_0018457, http://purl.obolibrary.org/obo/MONDO_0015958
Mendelian skeletal dysplasia, primary skeletal dysplasia, primary bone dysplasia, primary osteodysplasia
MONDO:0018230