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Brachyolmia Type 1, Hobaek Type (BCYM1A)

Alias:
Spondylodysplasia with Pure Brachyolmia
Brachyolmia, Recessive Type of Hobaek
Brachyolmia, Recessive Hobaek Type
Bcym1a
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Brachyolmia Type 1, Hobaek Type, is also known as spondylodysplasia with pure brachyolmia. Affiliated tissues include eye and bone, and related phenotypes are intellectual disability and scoliosis
Related ID：
MALACARDS：BRC114
OMIM：271530

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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6
BRC114

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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No data available

Related Drugs

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CAS Number
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Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
No Data Found!
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