Metaphyseal Chondrodysplasia, Schmid Type (MCDS)

Alias:
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

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Infant
--
20
104
46

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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