Chondrodysplasia Punctata, Tibia-Metacarpal Type

Alias:
Chondrodysplasia Punctata, Tibial-Metacarpal Type
Chondrodysplasia Punctata, Mt Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chondrodysplasia Punctata, Tibia-Metacarpal Type, also known as chondrodysplasia punctata, tibial-metacarpal type, is related to chondrodysplasia punctata syndrome and osteochondrodysplasia. An important gene associated with Chondrodysplasia Punctata, Tibia-Metacarpal Type is ARSD (Arylsulfatase D). Affiliated tissues include bone, and related phenotypes are short 4th metacarpal and epiphyseal stippling

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
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1
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11

Medical Symptom

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Description
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Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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