Chondrodysplasia Punctata 2, X-Linked Dominant (CDPX2)

Alias:
Cdpx2
X-Linked Dominant Chondrodysplasia Punctata
Conradi-Hunermann-Happle Syndrome
Cdpxd
Cpxd
Chondrodysplasia Punctata 2 X-Linked Dominant
Chondrodysplasia Punctata, X-Linked Dominant
X-Linked Chondrodysplasia Punctata Type 2
Chondrodystrophia Calcificans Congenita
Conradi-Hunermann Syndrome
Happle Syndrome
Chondrodysplasia Punctata, Type 2, X-Linked Dominant
Chondrodysplasia Punctata, X-Linked Dominant Type
Conradi-Hünermann-Happle Syndrome
Chondrodysplasia Punctata
Chh
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chondrodysplasia Punctata 2, X-Linked Dominant, also known as cdpx2, is related to x-linked chondrodysplasia punctata 2 and greenberg dysplasia, and has symptoms including edema An important gene associated with Chondrodysplasia Punctata 2, X-Linked Dominant is EBP (EBP Cholestenol Delta-Isomerase), and among its related pathways/superpathways are Metabolism and superpathway of cholesterol biosynthesis. The drugs Glycerin and Coconut have been mentioned in the context of this disorder. Affiliated tissues include skin and bone, and related phenotypes are epiphyseal stippling and abnormality of the skin
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLR
Unknown
1-9/1000000
4
27
42

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
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Publications
No data available

References Literature

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PMID
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IF
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