Preferred Name

Silver-Russell Syndrome [Disease/Finding]

Synonyms

Russell-Silver Syndrome

ID

http://purl.bioontology.org/ontology/NDFRT/N0000181061

altLabel

Russell-Silver Syndrome

Silver-Russell Syndrome

Russell Silver Syndrome

Silver-Russell Dwarfism

Silver Russell Dwarfism

cui

C0175693

MESH DEFINITION

Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology.

MESH DUI

D056730

MeSH name

Silver-Russell Syndrome

MESH UI

M0528886

NDFRT kind

DISEASE_KIND

notation

N0000181061

NUI

N0000181061

prefLabel

Silver-Russell Syndrome [Disease/Finding]

tui

T047

subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000000266

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