Metaphyseal Chondrodysplasia, Schmid Type (MCDS)

Metaphyseal Chondrodysplasia, Schmid Type(来自ICD-11)

别称:

Schmid Metaphyseal Chondrodysplasia

Metaphyseal Chondrodysplasia Schmid Type

Mcds

Spondylometaphyseal Dysplasia, Japanese Type

Japanese Type Spondylometaphyseal Dysplasia

Chondrodysplasia, Metaphyseal, Schmid Type

Corneal Dystrophy, Subepithelial Mucinous

Metaphyseal Chondrodysplasia Type Schmid

Schmid Type Metaphyseal Chondrodysplasia

Schmid Type Metaphyseal Dysplasia

Smcd

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Metaphyseal Chondrodysplasia, Schmid Type, also known as schmid metaphyseal chondrodysplasia, is related to corneal dystrophy, subepithelial mucinous and spondyloepimetaphyseal dysplasia, strudwick type. An important gene associated with Metaphyseal Chondrodysplasia, Schmid Type is COL10A1 (Collagen Type X Alpha 1 Chain), and among its related pathways/superpathways are Peptide chain elongation and Regulation of expression of SLITs and ROBOs. Affiliated tissues include bone and bone marrow, and related phenotypes are waddling gait and coxa vara

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