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Standards Ontologies Notations
Guidelines
MIRAGE
congenital generalized lipodystrophy

Summary
Definition
A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance.
Super Class
autosomal recessive disease complete generalized lipodystrophy physical disorder
Disease Ontology
DOID:0050585
Mondo Disease Ontology
GARD
WikiPathways (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5130 PCYT1A phosphate cytidylyltransferase 1A, choline
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: April 7, 2025