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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
Peripheral Dysostosis
Alias:
Dysostosis Peripheral
Acrodysostosis
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Description
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Peripheral Dysostosis, also known as dysostosis peripheral, is related to acrodysostosis and angel-shaped phalangoepiphyseal dysplasia. Affiliated tissues include bone, and related phenotypes are joint stiffness and short stature
Related ID:
MALACARDS:PRP090
OMIM:170700
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
<1/1000000
--
--
6
PRP090
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
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
Title
PMID
Journal
Year
IF
No Data Found!
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