Acrofrontofacionasal Dysostosis

Alias:
Richieri-Costa-Colletto Syndrome
Acrofrontofacionasal Dysostosis Syndrome
Affn Dysostosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Acrofrontofacionasal Dysostosis, also known as richieri-costa-colletto syndrome, is related to dysostosis and acrofrontofacionasal dysostosis 2. An important gene associated with Acrofrontofacionasal Dysostosis is NBAS (NBAS Subunit Of NRZ Tethering Complex). Affiliated tissues include bone and skin, and related phenotypes are ptosis and high palate
Related ID:
MESH:C538186

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
4
20
--

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

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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