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Camurati-Engelmann disease

Summary
Synonym
  • Diaphyseal dysplasia
  • Engelman's disease
  • progressive diaphyseal dysplasia
Definition
An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone.
Super Class
monogenic disease osteosclerosis
Disease Ontology
DOID:4997
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
4286 MITF melanocyte inducing transcription factor
7040 TGFB1 transforming growth factor beta 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
17342 Mitf melanogenesis associated transcription factor
21803 Tgfb1 transforming growth factor, beta 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
59086 Tgfb1 transforming growth factor, beta 1
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
397778 tgfb1.L transforming growth factor beta 1 L homeolog Xenopus laevis (African clawed frog)
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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: December 9, 2024