Spondyloepimetaphyseal Dysplasia, Missouri Type (SEMDM)

Alias:

Metaphyseal Anadysplasia 1

Spondyloepimetaphyseal Dysplasia Type 2

Semd, Missouri Type

Semd Type 2

Semdm

Spondyloepimetaphyseal Dysplasia Type Missouri

Spondylometaepiphyseal Dysplasia Type Missouri

Anadysplasia, Metaphyseal, Type 1

Semd-Mo

Mandp1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spondyloepimetaphyseal Dysplasia, Missouri Type, also known as metaphyseal anadysplasia 1, is related to spondyloepimetaphyseal dysplasia and osteochondrodysplasia. An important gene associated with Spondyloepimetaphyseal Dysplasia, Missouri Type is MMP13 (Matrix Metallopeptidase 13), and among its related pathways/superpathways are Infectious disease and O-linked glycosylation of mucins. Affiliated tissues include bone, and related phenotypes are genu varum and short lower limbs

Related ID：

MALACARDS：SPN030

OMIM：602111

MESH：C566574