Melorheostosis

Alias:
Melorheostosis, Isolated
Hyperostosis, Monomelic
Melorheostosis of Leri
Periostitis; Monomelic
Flowing Hyperostosis
Candle Wax Disease
Leri's Disease
Melorheostoses
Leri Syndrome
Rheostosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Melorheostosis, also known as hyperostosis, monomelic, is related to melorheostosis, isolated and buschke-ollendorff syndrome. An important gene associated with Melorheostosis is MAP2K1 (Mitogen-Activated Protein Kinase Kinase 1), and among its related pathways/superpathways are Nervous system development and Signal Transduction. Affiliated tissues include bone and cortex, and related phenotypes are failure to thrive and skeletal dysplasia
Related ID:
MESH:D008557

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
All ages
<1/1000000
14
179
1

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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