Terminology Service for NFDI4Health
skeletal dysplasia
Go to external page
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 https://www.skeldys.org/ http://www.ncbi.nlm.nih.gov/pubmed/31633310 ]
Term info
Label
skeletal dysplasia
Synonyms
- Mendelian skeletal dysplasia
- primary bone dysplasia
- primary osteodysplasia
- primary skeletal dysplasia
Subsets
disease_grouping, ordo_group_of_disorders
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
id
MONDO:0018230
see also
https://github.com/monarch-initiative/mondo/issues/4995