JSON

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://www.skeldys.org/ https://orcid.org/0000-0001-5208-3432 http://www.ncbi.nlm.nih.gov/pubmed/31633310 ]

Synonyms: Mendelian skeletal dysplasia primary skeletal dysplasia primary bone dysplasia primary osteodysplasia

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:21567 (Orphanet:364526)
  • Orphanet:364526 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, rare, orphanet_rare, ordo_group_of_disorders

IAO 0000233

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

exactMatch

http://www.orpha.net/ORDO/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

Term relations