multiple epiphyseal dysplasia 3

Term ID

DOID:0070304

Synonyms

EDM3
multiple epiphyseal dysplasia 3 with or without myopathy

Definition

A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. https://www.ncbi.nlm.nih.gov/pubmed/10090888

References

OMIM:600969

Ontology

Human Disease ( DOID:0070304 )

Relationships

is a type of: autosomal dominant disease multiple epiphyseal dysplasia due to collagen 9 anomaly

autosomal dominant disease multiple epiphyseal dysplasia due to collagen 9 anomaly Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations