Parietal Foramina with Cleidocranial Dysplasia (PFMCCD)

Alias:
Cleidocranial Dysplasia with Parietal Foramina
Pfmccd
Foramina, Parietal, with Cleidocranial Dysplasia
Parietal Foramina with Clavicular Hypoplasia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Parietal Foramina with Cleidocranial Dysplasia, also known as cleidocranial dysplasia with parietal foramina, is related to parietal foramina and cleidocranial dysplasia 1. An important gene associated with Parietal Foramina with Cleidocranial Dysplasia is MSX2 (Msh Homeobox 2), and among its related pathways/superpathways is Mesenchymal Stem Cells and Lineage-specific Markers. Affiliated tissues include bone, and related phenotypes are parietal foramina and macrocephaly

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
2
30
1

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

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PMID
Journal
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IF
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