multiple epiphyseal dysplasia 1

Summary
Synonym
  • EDM1
  • MED1
  • multiple epiphyseal dysplasia COMP-related
  • polyepiphyseal dysplasia type 1
Definition
A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.
Super Class
autosomal dominant disease multiple epiphyseal dysplasia
External Links
Disease Ontology
DOID:0070303
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD

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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