Silver-Russell syndrome

Summary
Synonym
  • Silver Russell Dwarfism
Definition
A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations.
Super Class
physical disorder
External Links
Disease Ontology
DOID:14681
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 31 - 36 of 36 in total
Gene ID Gene Symbol Description Source
9365 KL klotho
11285 B4GALT7 beta-1,4-galactosyltransferase 7
56994 CHPT1 choline phosphotransferase 1
64132 XYLT2 xylosyltransferase 2
79623 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14
79947 DHDDS dehydrodolichyl diphosphate synthase subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
16002 Igf2 insulin-like growth factor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
24483 Igf2 insulin-like growth factor 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024