loading...| Preferred Name |
Larsen syndrome |
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| Synonyms |
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| Definitions |
An orofacial clefting syndrome characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_503 |
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| definition |
An orofacial clefting syndrome characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=503 |
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| has_age_of_onset |
Infancy Neonatal |
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| has_inheritance |
Autosomal dominant |
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| hasDbXref |
UMLS:C0175778 MeSH:C580241 OMIM:150250 MedDRA:10073856 ICD-10:Q74.8 ICD-11:LD24.E |
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| label |
Larsen syndrome |
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| notation |
ORPHA:503 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_139039 http://www.orpha.net/ORDO/Orphanet_139030 |
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| prefixIRI |
ORDO:Orphanet_503 |
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| prefLabel |
Larsen syndrome |
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| present_in |
Europe AND has_point_prevalence_range : 1-9 / 1 000 000 Europe AND has_birth_prevalence_average_value : 0.4 AND has_birth_prevalence_range : 1-9 / 1 000 000 France AND has_birth_prevalence_average_value : 0.65 AND has_birth_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_range : 1-9 / 1 000 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_139039 http://www.orpha.net/ORDO/Orphanet_139030 |
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| subClassOf |