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Phosphohydroxylysinuria (PHLU)

Alias:
Phlu
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Phosphohydroxylysinuria, also known as phlu, is related to neurometabolic disease. An important gene associated with Phosphohydroxylysinuria is PHYKPL (5-Phosphohydroxy-L-Lysine Phospho-Lyase). Affiliated tissues include kidney, and related phenotype is phosphohydroxylysinuria.
Related ID：
MALACARDS：PHS019
OMIM：615011
MESH：D008661

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
4
3
PHS019

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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