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Standards Ontologies Notations
frontometaphyseal dysplasia 2

Summary
Synonym
  • FMD2
Definition
A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15.
Super Class
autosomal dominant disease frontometaphyseal dysplasia
Disease Ontology
DOID:0111787
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
6885 MAP3K7 mitogen-activated protein kinase kinase kinase 7
Displaying 1 entry
Gene ID Gene Symbol Description Source
26409 Map3k7 mitogen-activated protein kinase kinase kinase 7
Displaying 1 entry
Gene ID Gene Symbol Description Source
313121 Map3k7 mitogen activated protein kinase kinase kinase 7
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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