loading...| Preferred Name | Larsen syndrome | |
| Synonyms |
autosomal dominant Larsen syndrome LRS dominant Larsen syndrome Larsen syndrome |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007875 |
|
| database_cross_reference |
ICD9:759.89 NANDO:2201019 SCTID:63387002 UMLS:C0175778 MEDGEN:104500 MESH:C580241 OMIM:150250 Orphanet:503 icd11.foundation:607849551 DOID:14764 GARD:6860 NORD:1349 |
|
| definition |
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. |
|
| has_exact_synonym |
dominant Larsen syndrome Larsen syndrome |
|
| has_related_synonym |
autosomal dominant Larsen syndrome LRS |
|
| id |
MONDO:0007875 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Larsen syndrome |
|
| notation |
MONDO:0007875 |
|
| preferred label |
Larsen syndrome |
|
| prefLabel |
Larsen syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/6860/larsen-syndrome |
|
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C0175778 http://purl.obolibrary.org/obo/DOID_14764 http://identifiers.org/medgen/104500 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/607849551 http://identifiers.org/snomedct/63387002 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019755 |
|
| excluded_subClassOf |