Sclerosteosis

Alias:
Cortical Hyperostosis-Syndactyly Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Sclerosteosis, also known as cortical hyperostosis-syndactyly syndrome, is related to sclerosteosis 2 and sclerosteosis 1, and has symptoms including unspecified visual loss An important gene associated with Sclerosteosis is SOST (Sclerostin), and among its related pathways/superpathways are Signal Transduction and Signaling by WNT. Affiliated tissues include bone, and related phenotypes are craniofacial hyperostosis and abnormal cortical bone morphology
Related ID:
MESH:C537525

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
30
570
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Medical Symptom

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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

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PMID
Journal
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IF
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