infantile myofibromatosis

Summary
Synonym
  • lipofibromatosis
Definition
A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs.
Super Class
connective tissue benign neoplasm
External Links
Disease Ontology
DOID:0080109
Mondo Disease Ontology
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
176 ACAN aggrecan
23583 SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
31293 N Notch
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P16112 Aggrecan core protein

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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