Disease #00691

Official abbreviation EDMMD
Name dysplasia, epiphyseal, multiple, with myopia and deafness (EDMMD)
OMIM ID 132450
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 0
Phenotype entries for this disease 0
Associated with 1 gene COL2A1
Associated tissues -
Disease features -
Remarks -