Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

SILVER-RUSSELL SYNDROME 1

Synonyms

RUSSELL-SILVER SYNDROME

ID

http://purl.bioontology.org/ontology/OMIM/180860

altLabel

RUSSELL-SILVER SYNDROME

RSS

SRS1

SILVER-RUSSELL DWARFISM

cui

C0175693

C5393125

Gene Locus

11p15.5

Gene Symbol

BWS

SRS1

ICR1

WT2

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU071439

http://purl.bioontology.org/ontology/OMIM/MTHU000229

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU002155

http://purl.bioontology.org/ontology/OMIM/MTHU071440

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU000848

http://purl.bioontology.org/ontology/OMIM/MTHU071441

http://purl.bioontology.org/ontology/OMIM/MTHU000371

http://purl.bioontology.org/ontology/OMIM/MTHU015742

http://purl.bioontology.org/ontology/OMIM/MTHU006054

http://purl.bioontology.org/ontology/OMIM/MTHU000566

http://purl.bioontology.org/ontology/OMIM/MTHU001789

http://purl.bioontology.org/ontology/OMIM/MTHU000565

http://purl.bioontology.org/ontology/OMIM/MTHU001172

http://purl.bioontology.org/ontology/OMIM/MTHU036365

http://purl.bioontology.org/ontology/OMIM/MTHU001305

http://purl.bioontology.org/ontology/OMIM/MTHU002115

http://purl.bioontology.org/ontology/OMIM/MTHU012071

http://purl.bioontology.org/ontology/OMIM/MTHU017992

http://purl.bioontology.org/ontology/OMIM/MTHU036339

http://purl.bioontology.org/ontology/OMIM/MTHU009863

http://purl.bioontology.org/ontology/OMIM/MTHU004625

http://purl.bioontology.org/ontology/OMIM/MTHU036338

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU071442

http://purl.bioontology.org/ontology/OMIM/MTHU071443

http://purl.bioontology.org/ontology/OMIM/MTHU000145

MIMTYPEMEANING

Phenotype description, molecular basis known.

Moved from

270050

notation

180860

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

SILVER-RUSSELL SYNDROME 1

Scope Statement

Body asymmetry [MISCELLANEOUS]

Maternal 11p15 duplications associated with fetal growth retardation [MISCELLANEOUS]

Genetic heterogeneity [MISCELLANEOUS]

Caused by epigenetic changes of DNA hypomethylation at the H19/IGF2-imprinting control region (ICR1, 616186) [MOLECULAR BASIS]

Imprinted disorder [MISCELLANEOUS]

tui

T047

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