Preferred Name |
Silver-Russell syndrome |
|
Synonyms |
Silver-Russell dwarfism |
|
Definitions |
Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry. |
|
ID |
http://www.orpha.net/ORDO/Orphanet_813 |
|
alternative_term |
Silver-Russell dwarfism |
|
definition |
Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry. |
|
definition_citation |
Orphanet |
|
expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=813 |
|
has_age_of_onset |
Antenatal Neonatal |
|
has_inheritance |
Not applicable Autosomal dominant |
|
hasDbXref |
ICD-10:Q87.1 OMIM:180860 UMLS:C0175693 MedDRA:10062282 OMIM:616489 OMIM:312780 ICD-11:LD2F.1Y MeSH:D056730 |
|
label |
Silver-Russell syndrome |
|
notation |
ORPHA:813 |
|
part_of |
http://www.orpha.net/ORDO/Orphanet_519296 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_641343 http://www.orpha.net/ORDO/Orphanet_183570 http://www.orpha.net/ORDO/Orphanet_139021 |
|
prefixIRI |
ORDO:Orphanet_813 |
|
prefLabel |
Silver-Russell syndrome |
|
present_in |
Europe AND has_birth_prevalence_average_value : 0.7 AND has_birth_prevalence_range : 1-9 / 1 000 000 Europe AND has_annual_incidence_average_value : 15.5 AND has_annual_incidence_range : 1-5 / 10 000 United Kingdom AND has_point_prevalence_average_value : 1.0 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 1 000 000 United Kingdom AND has_birth_prevalence_range : 1-9 / 100 000 |
|
treeView |
http://www.orpha.net/ORDO/Orphanet_519296 http://www.orpha.net/ORDO/Orphanet_183422 http://www.orpha.net/ORDO/Orphanet_641343 http://www.orpha.net/ORDO/Orphanet_183570 http://www.orpha.net/ORDO/Orphanet_139021 |
|
subClassOf |