Melorheostosis with Osteopoikilosis

Alias:
Mixed Sclerosing Bone Dystrophy
Msbd Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Melorheostosis with Osteopoikilosis, also known as mixed sclerosing bone dystrophy, is related to mixed sclerosing bone dystrophy with extra-skeletal manifestations and melorheostosis, isolated. An important gene associated with Melorheostosis with Osteopoikilosis is LEMD3 (LEM Domain Containing 3). Affiliated tissues include bone and skin, and related phenotypes are abnormal cortical bone morphology and osteopoikilosis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
All ages
<1/1000000
1
3
5

Medical Symptom

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

Gene & Mutation

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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
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