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Larsen syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0007875

Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate. [ Orphanet:503 ]

Synonyms: dominant Larsen syndrome Larsen syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C580241 (MONDO:equivalentTo)
  • UMLS:C0175778 (MONDO:equivalentTo)
  • NORD:1349 (MONDO:NORD)
  • OMIM:150250 (Orphanet:503/e)
  • Orphanet:503 (OMIM:150250)
  • MEDGEN:104500 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • GARD:6860 (MONDO:GARD)
  • NANDO:2201019 (https://orcid.org/0000-0003-0011-764X)
  • DOID:14764 (MONDO:equivalentTo)
  • SCTID:63387002 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare

exactMatch

http://identifiers.org/mesh/C580241

http://linkedlifedata.com/resource/umls/id/C0175778

http://www.orpha.net/ORDO/Orphanet_503

https://omim.org/entry/150250

http://identifiers.org/medgen/104500

http://identifiers.org/snomedct/63387002

http://purl.obolibrary.org/obo/DOID_14764

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019700

has related synonym

LRS

autosomal dominant Larsen syndrome

id

MONDO:0007875

seeAlso

https://rarediseases.info.nih.gov/diseases/6860/larsen-syndrome