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

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
  • UMLS:C0410528 (MONDO:equivalentTo)
  • Orphanet:364526 (MONDO:equivalentTo)
  • MEDGEN:98053 (MONDO:equivalentTo)
Subsets

otar, disease_grouping, ordo_group_of_disorders

IAO 0000233

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

exactMatch

http://identifiers.org/medgen/98053

http://linkedlifedata.com/resource/umls/id/C0410528

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