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platyspondylic dysplasia, Torrance type

Go to external page http://purl.obolibrary.org/obo/MONDO_0007895

Synonyms: platyspondylic dysplasia, Torrance type Platyspondylic lethal skeletal dysplasia, Torrance type platyspondylic skeletal dysplasia, Torrance type PLSD-T Platyspondylic dysplasia, Torrance-Luton type

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C563627 (MONDO:equivalentTo)
  • UMLS:C1835437 (Orphanet:85166)
  • DOID:0111508 (MONDO:equivalentTo)
  • Orphanet:85166 (OMIM:151210)
  • GARD:4382 (Orphanet:85166)
  • OMIM:151210 (Orphanet:85166/e)
Subsets

gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

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

exactMatch

http://purl.obolibrary.org/obo/DOID_0111508

http://linkedlifedata.com/resource/umls/id/C1835437

http://identifiers.org/mesh/C563627

https://omim.org/entry/151210

http://www.orpha.net/ORDO/Orphanet_85166

has related synonym

thanatophoric dysplasia, Torrance variant

lethal short-limbed Platyspondylic dwarfism Torrance type

thanatophoric dysplasia Torrance variant

lethal short-limbed Platyspondylic dwarfism, Torrance type

Platyspondylic lethal skeletal dysplasia, Luton type

Platyspondylic lethal skeletal dysplasia Torrance type

PLSDT

thanatophoric dysplasia, Luton variant

id

MONDO:0007895

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0007895