Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material

Symptom Information:

Symptom ID: HPO:0006916
Synonyms:
Intraaxonal accumulation of curvilinear profiles [HPO:0006916]
Intraaxonal accumulation of curvilinear profiles [OMIM:Intraaxonal accumulation of curvilinear profiles]
Quality:
Cross references:
OMIM: "Intraaxonal accumulation of curvilinear profiles" [OMIM:Intraaxonal accumulation of curvilinear profiles]
Is a (Direct Parents):
HPO         Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of cell physiology(HPO:0011017)
             Intracellular accumulation of autofluorescent lipopigment storage material(HPO:0003204)
                Curvilinear intracellular accumulation of autofluorescent lipopigment storage material(HPO:0003205)
                   Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material(HPO:0006916)
MedDRA:
Database Frequency: 1 / 7739
Resource:

All diseases associated with this symptom:

Charcot-Marie-Tooth disease type 4D (Orphanet:99950)