X-Linked Chondrodysplasia Punctata 2 (CDPX2)

Alias:
Conradi-Hünermann Syndrome
Happle Syndrome
Chondrodysplasia Punctata 2, X-Linked
Cdpx2
Chondrodysplasia Punctata, X-Linked Dominant Type
X-Linked Dominant Chondrodysplasia Punctata
Conradi-Hünermann-Happle Syndrome
Conradi-Hunermann Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
X-Linked Chondrodysplasia Punctata 2, also known as conradi-hünermann syndrome, is related to chondrodysplasia punctata 2, x-linked dominant and greenberg dysplasia, and has symptoms including edema An important gene associated with X-Linked Chondrodysplasia Punctata 2 is EBP (EBP Cholestenol Delta-Isomerase), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. Affiliated tissues include eye and trachea, and related phenotypes are homeostasis/metabolism and growth/size/body region
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLR
Newborn
--
14
84
38

Medical Symptom

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Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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