Gorham's disease

Summary
Synonym
  • Disappearing bone disease
  • Gorham disease
  • essential osteolysis
  • massive osteolysis
  • phantom bone disease
Definition
A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones.
Super Class
syndrome
External Links
Disease Ontology
DOID:4837
Mondo Disease Ontology
MeSH
UMLS
GARD
Related Genes
Displaying entries 1 - 10 of 12 in total
Gene ID Gene Symbol Description Source
353 APRT adenine phosphoribosyltransferase
1581 CYP7A1 cytochrome P450 family 7 subfamily A member 1
2538 G6PC1 glucose-6-phosphatase catalytic subunit 1
2542 SLC37A4 solute carrier family 37 member 4
2632 GBE1 1,4-alpha-glucan branching enzyme 1
2992 GYG1 glycogenin 1
2998 GYS2 glycogen synthase 2
5836 PYGL glycogen phosphorylase L
5837 PYGM glycogen phosphorylase, muscle associated
6476 SI sucrase-isomaltase

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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