Achondrogenesis, Type Ib (ACG1B)

Alias:
Achondrogenesis Type Ib
Achondrogenesis Type 1b
Achondrogenesis Fraccaro Type
Achondrogenesis Ib
Acg1b
Acg1b, Slc26a2-Related Achondrogenesis
Achondrogenesis, Parenti-Fraccaro Type
Achondrogenesis, Fraccaro Type
Fraccaro Achondrogenesis
Achondrogenesis 1b
Acg-Ib
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Achondrogenesis, Type Ib, also known as achondrogenesis type ib, is related to achondrogenesis, type ii and diastrophic dysplasia. An important gene associated with Achondrogenesis, Type Ib is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways/superpathways are Metapathway biotransformation Phase I and II and Extracellular matrix organization. Affiliated tissues include bone and skin, and related phenotypes are macrocephaly and frontal bossing
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
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12
47
61

Medical Symptom

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Categorization
Description
HPO Frequency
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No data available

Gene & Mutation

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Mutations
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Related Drugs

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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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