Femoral Agenesis/hypoplasia

Alias:
Congenital Short Femur
Femoral Intercalary Meromelia
Congenital Absence of Femur with or Without Absence of Some, but Not All, Distal Elements
Congenital Absence of Femur, with or Without Absence of Some Distal Elements
Pffd - [proximal Femoral Focal Deficiency]
Proximal Femoral Focal Deficiency
Proximal Phocomelia of Lower Limb
Congenital Absence of Thigh Only
Congenital Absence of Femur
Congenital Short Thigh
Agenesis of Femur
Absence of Femur
Absent Femur
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Femoral Agenesis/hypoplasia, also known as congenital short femur, is related to proximal femoral focal deficiency and osteochondrodysplasia. Affiliated tissues include bone and brain.
Related ID:
ICD11:662157487

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Antenatal
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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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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
No Data Found!
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