loading...| Preferred Name | Larsen syndrome | |
| Synonyms |
autosomal dominant Larsen syndrome LRS Larsen syndrome dominant 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 |
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| altLabel |
autosomal dominant Larsen syndrome LRS Larsen syndrome dominant Larsen syndrome |
|
| 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 |
Larsen syndrome dominant Larsen syndrome |
|
| has_related_synonym |
autosomal dominant Larsen syndrome LRS |
|
| label |
Larsen syndrome |
|
| prefixIRI |
MONDO:0007875 |
|
| prefLabel |
Larsen syndrome |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/6860/larsen-syndrome |
|
| textual 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. |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0019755 http://purl.obolibrary.org/obo/MONDO_0000426 |