Atelosteogenesis, Type I (AO1)

Alias:
Atelosteogenesis Type I
Giant Cell Chondrodysplasia
Aoi
Ao1
Spondylohumerofemoral Hypoplasia
Atelosteogenesis Type 1
Spondylo-Humero-Femoral Dysplasia
Atelosteogenesis, Type 1
Atelosteogenesis 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Atelosteogenesis, Type I, also known as atelosteogenesis type i, is related to atelosteogenesis and osteochondrodysplasia. An important gene associated with Atelosteogenesis, Type I is FLNB (Filamin B). Affiliated tissues include bone and testes, and related phenotypes are talipes equinovarus and brachydactyly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
<1/1000000
1
9
13

Medical Symptom

#
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

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
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