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Maternal Uniparental Disomy of Chromosome 1

Alias:
Upd(1)mat
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Maternal Uniparental Disomy of Chromosome 1, also known as upd(1)mat, is related to maternal uniparental disomy and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a. Affiliated tissues include bone and skin, and related phenotypes are seizure and failure to thrive
Related ID：
MALACARDS：MTR051

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Newborn
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MTR051

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

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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
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IF
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