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Metadata
DOID DOID:0070303
Name multiple epiphyseal dysplasia 1
Definition A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.
https://www.ncbi.nlm.nih.gov/pubmed/7670471, https://www.ncbi.nlm.nih.gov/pubmed/7670472
Synonyms

EDM1 [EXACT]

MED1 [EXACT]

multiple epiphyseal dysplasia COMP-related [EXACT]

polyepiphyseal dysplasia type 1 [EXACT]

Xrefs

GARD:2180

MESH:C535501

OMIM:132400

ORDO:93308

UMLS_CUI:C1838280

Relationships

is_a multiple epiphyseal dysplasia

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