An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis. [ https://orcid.org/0000-0001-8612-1062 ]
Synonyms: SED spondyloepiphyseal dysplasia
Term information
- DOID:0112280 (MONDO:equivalentTo)
- ICD9:756.9 (MONDO:relatedTo)
- MEDGEN:20916 (MONDO:equivalentTo)
- MedDRA:10062920 (Orphanet:253/e)
- UMLS:C0038015 (MONDO:equivalentTo)
- Orphanet:252 (MONDO:equivalentObsolete)
gard_rare, otar, disease_grouping, rare, nord_rare
https://github.com/monarch-initiative/mondo/issues/7065
https://github.com/monarch-initiative/mondo/issues/4948
http://linkedlifedata.com/resource/umls/id/C0038015
http://identifiers.org/medgen/20916
http://purl.obolibrary.org/obo/DOID_0112280