Brachydactyly, Type E2 (BDE2)

Alias:
Brachydactyly Type E2
Bde2
Brachydactyly E2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Brachydactyly, Type E2, also known as brachydactyly type e2, is related to brachydactyly and brachydactyly, type e1. An important gene associated with Brachydactyly, Type E2 is PTHLH (Parathyroid Hormone Like Hormone), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Remodeling of Adherens Junctions. Affiliated tissues include bone and brain, and related phenotypes are delayed eruption of teeth and oligodontia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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11
63
6

Medical Symptom

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Description
HPO Frequency
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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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