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
Term information
- Orphanet:503 (OMIM:150250)
- DOID:14764 (MONDO:equivalentTo)
- GARD:6860 (MONDO:GARD)
- SCTID:63387002 (MONDO:equivalentTo)
- MESH:C580241 (MONDO:equivalentTo)
- icd11.foundation:607849551 (MONDO:equivalentTo)
- OMIM:150250 (Orphanet:503/e)
- ICD9:759.89 (MONDO:relatedTo)
- NANDO:2201019 (https://orcid.org/0000-0003-0011-764X)
- NORD:1349 (MONDO:NORD)
- UMLS:C0175778 (MONDO:equivalentTo)
- MEDGEN:104500 (MONDO:equivalentTo)
matrix_llm__is_cancer_other, ordo_disorder, gard_rare, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_included, nord_rare, rare, harrisons_view_musculoskeletal_system_disorder, orphanet_rare, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, mondo_top_grouping_musculoskeletal_system_disorder, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, ordo_malformation_syndrome, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis
http://linkedlifedata.com/resource/umls/id/C0175778
http://identifiers.org/mesh/C580241
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/607849551
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