Chondrodysplasia Punctata 1, X-Linked Recessive (CDPX1)

Alias:
Chondrodysplasia Punctata, Brachytelephalangic
Chondrodysplasia Punctata, X-Linked Recessive
X-Linked Chondrodysplasia Punctata 1
Cdpx1
Chondrodysplasia Punctata, Type 1, X-Linked Recessive
Brachytelephalangic Chondrodysplasia Punctata
Chondrodysplasia Punctata Brachytelephalangic
Cpxr
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chondrodysplasia Punctata 1, X-Linked Recessive, also known as chondrodysplasia punctata, brachytelephalangic, is related to chondrodysplasia punctata, brachytelephalangic, autosomal and x-linked chondrodysplasia punctata 1. An important gene associated with Chondrodysplasia Punctata 1, X-Linked Recessive is ARSL (Arylsulfatase L). Affiliated tissues include bone and skin, and related phenotypes are hearing impairment and cataract
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Unknown
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1
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33

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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No data available

Related Drugs

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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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