Fibular Hemimelia

Alias:
Congenital Longitudinal Deficiency of the Fibula
Fibular Longitudinal Meromelia
Congenital Absence of Fibula with or Without Absence of Some, but Not All, Distal Elements
Congenital Absence of Fibula with or Without Absence of Some Distal Elements
Longitudinal Reduction Defect of Fibula
Congenital Absence of Fibula
Agenesis of Fibula
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Fibular Hemimelia, also known as congenital longitudinal deficiency of the fibula, is related to hemimelia and femoral agenesis/hypoplasia. Affiliated tissues include bone and heart, and related phenotypes are difficulty walking and abnormal fibula morphology
Related ID:
ICD11:915482054

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Antenatal
1-9/100000
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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
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No data available

Disease Model

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

References Literature

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PMID
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IF
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