Craniofacial Dysostosis with Diaphyseal Hyperplasia

Alias:
Craniofacial Dysostosis-Diaphyseal Hyperplasia Syndrome
Autosomal Dominant Osteosclerosis, Stanescu Type
Dysostosis, Stanescu Type
Stanescu Osteosclerosis
Osteosclerosis, Stanescu Type
Dysostosis Stanescu Type
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Craniofacial Dysostosis with Diaphyseal Hyperplasia, also known as craniofacial dysostosis-diaphyseal hyperplasia syndrome, is related to crouzon syndrome and dysostosis. Affiliated tissues include bone and cortex, and related phenotypes are scoliosis and cerebral calcification

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
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3

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

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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