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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
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Cystic Fibrosis
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Rare Disease
Amelia of Lower Limb
Alias:
Transverse Deficiency Lower Limb at Hip Level
Congenital Complete Absence of Lower Limb
Congenital Complete Absence of Leg
Congenital Absence of Lower Limb
Agenesis of Lower Limb
Lower Limb Aplasia
Amelia of the Leg
Agenesis of Leg
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Amelia of Lower Limb, also known as transverse deficiency lower limb at hip level, is related to clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly and talipes equinovarus. Affiliated tissues include bone.
Related ID:
MALACARDS:AML036
ICD11:540310468
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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AML036
Medical Symptom
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Categorization
Description
HPO Frequency
Orphanet Frequency
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No data available
Gene & Mutation
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MGI
Related Gene
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References Literature
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