Osteopoikilosis

Alias:
Dermatofibrosis Lenticularis Disseminata
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Osteopoikilosis, also known as dermatofibrosis lenticularis disseminata, is related to 12q14 microdeletion syndrome and melorheostosis, isolated, and has symptoms including joint stiffness An important gene associated with Osteopoikilosis is LEMD3 (LEM Domain Containing 3), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Mesodermal commitment pathway. Affiliated tissues include bone and breast, and related phenotypes are growth/size/body region and cellular
Related ID:
MESH:D010023
ICD11:801926378

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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22
180
1

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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