Visualize Submit Comment

Metadata
ID	DOID:0070301
Name	multiple epiphyseal dysplasia 6
Definition	A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13. https://www.ncbi.nlm.nih.gov/pubmed/11565064
Xrefs	OMIM:614135
Synonyms	EDM6 [EXACT]
Parent Relationships	is_a multiple epiphyseal dysplasia due to collagen 9 anomaly is_a autosomal dominant disease