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Metadata
ID DOID:0070300
Name multiple epiphyseal dysplasia 4
Definition A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32.
https://www.ncbi.nlm.nih.gov/pubmed/10465113
Xrefs

GARD:9793

MESH:C535504

OMIM:226900

ORDO:93307

SNOMEDCT_US_2020_09_01:715672007

UMLS_CUI:C1847593

Synonyms

EDM4 [EXACT]

MED4 [EXACT]

multiple epiphyseal dysplasia with bilateral patellae [EXACT]

multiple epiphyseal dysplasia with clubfoot [EXACT]

Polyepiphyseal dysplasia type 4 [EXACT]

rMED [EXACT]

Parent Relationships

is_a multiple epiphyseal dysplasia

is_a autosomal recessive disease

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