Frontometaphyseal Dysplasia (FMD)

Alias:
Fmd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Frontometaphyseal Dysplasia, also known as fmd, is related to frontometaphyseal dysplasia 2 and frontometaphyseal dysplasia 1. An important gene associated with Frontometaphyseal Dysplasia is FLNA (Filamin A), and among its related pathways/superpathways are p75 NTR receptor-mediated signalling and TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions. Affiliated tissues include bone and heart, and related phenotypes are scoliosis and hearing impairment
Related ID:
MESH:C538064

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLR
AD
XL
Newborn
<1/1000000
27
161
32

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
Year
IF
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