Brachyolmia Type 3 (BCYM3)

Alias:
Brachyrachia
Autosomal Dominant Brachyolmia
Bcym3
Brachyolmia, Autosomal Dominant
Brachyolmia, Type 3
Brachyolmia 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Brachyolmia Type 3, also known as brachyrachia, is related to brachyolmia and brachyolmia type 1, hobaek type. An important gene associated with Brachyolmia Type 3 is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Affiliated tissues include bone and spinal cord, and related phenotypes are short stature and short thorax
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
--
1
18
10

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

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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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