Prader-Willi syndrome

Summary
Synonym
  • Prader Willi syndrome
Definition
A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity.
Super Class
chromosomal disease syndrome
External Links
Disease Ontology
DOID:11983
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 31 - 36 of 36 in total
Gene ID Gene Symbol Description Source
11285 B4GALT7 beta-1,4-galactosyltransferase 7
51738 GHRL ghrelin and obestatin prepropeptide
56994 CHPT1 choline phosphotransferase 1
64132 XYLT2 xylosyltransferase 2
79623 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14
79947 DHDDS dehydrodolichyl diphosphate synthase subunit

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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