Blount's Disease

Alias:
Blount Disease
Osteochondrosis Deformans Tibiae
Infantile Tibia Vara
Tibia Vara Blount
Osteochondrosis Deformans Tibiae, Familial Infantile Type
Familial Infantile Type Osteochondrosis Deformans Tibiae
Blount Disease, Infantile
Tibia Vara
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Blount's Disease, also known as blount disease, is related to prader-willi syndrome and osteochondrosis. An important gene associated with Blount's Disease is FRYL (FRY Like Transcription Coactivator), and among its related pathways/superpathways are G alpha (s) signalling events and FGF23 signaling in hypophosphatemic rickets and related disorders. Affiliated tissues include bone and tibia, and related phenotypes are tibial bowing and abnormality of the knee
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
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11
97
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Medical Symptom

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Description
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Gene & Mutation

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Disease Model

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MGI
Related Gene
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Publications
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References Literature

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