Terminology Service for NFDI4Health
spondyloepiphyseal dysplasia
Go to external page
http://purl.obolibrary.org/obo/MONDO_0016761
An osteochondrodysplasia that results in abnormalities of bone growth located in vertebral column, located in epiphysis, located in metaphysis. [ http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=252 http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia ]
Term info
Label
spondyloepiphyseal dysplasia
Synonyms
- SED and SEMD
- spondylo-epi-(meta)-physeal dysplasia
- spondyloepiphyseal dysplasia
- spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
Subsets
disease_grouping, ordo_group_of_disorders
closeMatch
http://identifiers.org/meddra/10062920
exactMatch
http://purl.obolibrary.org/obo/Orphanet_253, http://identifiers.org/snomedct/254062008, http://purl.obolibrary.org/obo/DOID_0080027
id
MONDO:0016761
see also
https://github.com/monarch-initiative/mondo/issues/4948