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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
Amyotrophic Lateral Sclerosis 1
USH2A c.8559-2A>G
Cystic Fibrosis
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Rare Disease
Trisomy 5p
Alias:
Duplication of the Short Arm of Chromosome 5
Trisomy of the Short Arm of Chromosome 5
Duplication 5p
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Trisomy 5p, also known as duplication of the short arm of chromosome 5, is related to cri-du-chat syndrome and hypotonia. Affiliated tissues include eye and heart, and related phenotypes are macrocephaly and frontal bossing
Related ID:
MALACARDS:TRS040
ICD11:890606227
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
<1/1000000
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--
--
TRS040
Medical Symptom
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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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Function
Score
Mutations
No data available
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Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
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Year
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