ZFIN Human Disease: multiple epiphyseal dysplasia with myopia and deafness

OBO ID: DOID:0111348

Term Name:	multiple epiphyseal dysplasia with myopia and deafness		Search Ontology:
Synonyms:	EDMMD multiple epiphyseal dysplasia, Beighton type multiple epiphyseal dysplasia-myopia-deafness syndrome
Definition:	A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (2)
References:	MESH:C565046 OMIM:132450 ORDO:166011 UMLS_CUI:C1851536
Ontology:	Human Disease ( DOID:0111348 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER multiple epiphyseal dysplasia with myopia and deafness PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COL2A1	col2a1b col2a1a	?Epiphyseal dysplasia, multiple, with myopia and deafness	132450

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None