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spondyloepimetaphyseal dysplasia

^ http://purl.obolibrary.org/obo/MONDO_0100510


An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis. [ DOID:0080027 https://orcid.org/0000-0001-5208-3432 ]

Term info

database cross reference
  • DOID:0080027 (MONDO:equivalentTo)
  • SCTID:254062008 (MONDO:equivalentTo)
abbreviation
SEMD [ PMID:18328979 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5280

created by

http://orcid.org/0000-0001-5208-3432

definition

An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis.

exactMatch

http://identifiers.org/snomedct/254062008, http://purl.obolibrary.org/obo/DOID_0080027

has exact synonym

spondylo-epi-(meta)-physeal dysplasia, SEMD

id

MONDO:0100510

Term relations