A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones. [ https://www.sciencedirect.com/topics/medicine-and-dentistry/dysostosis https://orcid.org/0000-0002-0736-9199 ]
Synonyms: dysostosis
Term information
- ICD9:756.9 (MONDO:relatedTo)
- SCTID:109420003 (MONDO:equivalentTo)
- GARD:21571 (MONDO:GARD)
- MESH:D004413 (MONDO:equivalentTo)
- NCIT:C34560 (MONDO:equivalentTo)
- Orphanet:364559 (MONDO:equivalentTo)
- UMLS:C0013393 (MONDO:equivalentTo)
- MEDGEN:4430 (MONDO:equivalentTo)
- DOID:1934 (MONDO:equivalentTo)
gard_rare, otar, disease_grouping, rare, obsoletion_candidate, ordo_group_of_disorders
https://github.com/monarch-initiative/mondo/issues/4994
https://github.com/monarch-initiative/mondo/issues/7861
http://identifiers.org/mesh/D004413
http://identifiers.org/medgen/4430
http://identifiers.org/snomedct/109420003
http://linkedlifedata.com/resource/umls/id/C0013393
http://purl.obolibrary.org/obo/NCIT_C34560
http://purl.obolibrary.org/obo/DOID_1934
http://www.orpha.net/ORDO/Orphanet_364559