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Osteosclerotic Metaphyseal Dysplasia (OSMD)

Alias:
Osmd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Osteosclerotic Metaphyseal Dysplasia, also known as osmd, is related to metaphyseal dysplasia and osteosclerosis. An important gene associated with Osteosclerotic Metaphyseal Dysplasia is LRRK1 (Leucine Rich Repeat Kinase 1). Affiliated tissues include bone, and related phenotypes are intellectual disability and seizure
Related ID：
MALACARDS：OST168
OMIM：615198
MESH：D010026

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
1
10
8
OST168

Medical Symptom

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

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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