Achondrogenesis, Type Ia (ACG1A)

Alias:
Achondrogenesis Type Ia
Achondrogenesis Type 1a
Achondrogenesis, Houston-Harris Type
Achondrogenesis Houston-Harris Type
Acg1a
Achondrogenesis 1a
Acg-Ia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Achondrogenesis, Type Ia, also known as achondrogenesis type ia, is related to osteochondrodysplasia and achondrogenesis, and has symptoms including edema An important gene associated with Achondrogenesis, Type Ia is TRIP11 (Thyroid Hormone Receptor Interactor 11), and among its related pathways/superpathways are Bardet-Biedl syndrome and Intraflagellar transport. Affiliated tissues include bone and tongue, 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
--
8
48
22

Medical Symptom

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Categorization
Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
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References Literature

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