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Osteopetrosis and Infantile Neuroaxonal Dystrophy

Alias:
Infantile Osteopetrosis with Neuroaxonal Dysplasia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Osteopetrosis and Infantile Neuroaxonal Dystrophy, also known as infantile osteopetrosis with neuroaxonal dysplasia, is related to infantile osteopetrosis with neuroaxonal dysplasia. An important gene associated with Osteopetrosis and Infantile Neuroaxonal Dystrophy is PLA2G6 (Phospholipase A2 Group VI).
Related ID：
MALACARDS：OST048
OMIM：600329

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
1
14
3
OST048

Medical Symptom

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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
No Data Found!
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