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spondyloepiphyseal dysplasia

^ 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 DOID:0080027 http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia ]

Term info

database cross reference
  • GARD:0007687 (MONDO:equivalentTo)
  • ICD9:756.9 (MONDO:relatedTo)
  • Orphanet:253 (MONDO:mondoIsBroaderThanSource)
  • Orphanet:252 (MONDO:equivalentObsolete)
  • MedDRA:10062920 (Orphanet:253/e)
  • DOID:0112280 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4948

closeMatch

http://identifiers.org/meddra/10062920

definition

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

exactMatch

http://purl.obolibrary.org/obo/DOID_0112280

has exact synonym

spondyloepiphyseal dysplasia

has narrow synonym

SED and SEMD, spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia

id

MONDO:0016761

narrowMatch

http://purl.obolibrary.org/obo/Orphanet_253

Term relations