multiple epiphyseal dysplasia 4 Disease Ontology Browser

Home
Genes
Phenotypes
Human Disease
Expression
Recombinases
Function
Strains / SNPs
Homology
Tumors

About Help FAQ

Search
Download
More Resources
Submit Data
Find Mice (IMSR)
Analysis Tools
Contact Us
Browsers

Disease Ontology Browser

multiple epiphyseal dysplasia 4 (DOID:0070300)
Alliance: disease page
Synonyms: EDM4; MED4; multiple epiphyseal dysplasia with bilateral patellae; multiple epiphyseal dysplasia with clubfoot; Polyepiphyseal dysplasia type 4; rMED
Alt IDs: OMIM:226900, MESH:C535504, ORDO:93307, UMLS_CUI:C1847593
Definition: A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24