Log In|Sign Up
ENLeukodystrophy, Hypomyelinating, 17 (HLD17)
Alias:
Hld17
Hypomyelinating Leukodystrophy 17
Favorite
Leukodystrophy, Hypomyelinating, 17, also known as hld17, is related to hypomyelinating leukodystrophy and leukodystrophy. An important gene associated with Leukodystrophy, Hypomyelinating, 17 is AIMP2 (Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 2). Affiliated tissues include spinal cord and cortex, and related phenotypes are seizure and hyperreflexia
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
